BPG is committed to discovery and dissemination of knowledge
Cited by in F6Publishing
For: Yang Y, Muzny DM, Xia F, Niu Z, Person R, Ding Y, Ward P, Braxton A, Wang M, Buhay C, Veeraraghavan N, Hawes A, Chiang T, Leduc M, Beuten J, Zhang J, He W, Scull J, Willis A, Landsverk M, Craigen WJ, Bekheirnia MR, Stray-Pedersen A, Liu P, Wen S, Alcaraz W, Cui H, Walkiewicz M, Reid J, Bainbridge M, Patel A, Boerwinkle E, Beaudet AL, Lupski JR, Plon SE, Gibbs RA, Eng CM. Molecular findings among patients referred for clinical whole-exome sequencing. JAMA. 2014;312:1870-1879. [PMID: 25326635 DOI: 10.1001/jama.2014.14601] [Cited by in Crossref: 855] [Cited by in F6Publishing: 750] [Article Influence: 106.9] [Reference Citation Analysis]
Number Citing Articles
1 Ji Y, Si Y, McMillin GA, Lyon E. Clinical pharmacogenomics testing in the era of next generation sequencing: challenges and opportunities for precision medicine. Expert Rev Mol Diagn 2018;18:411-21. [PMID: 29634383 DOI: 10.1080/14737159.2018.1461561] [Cited by in Crossref: 12] [Cited by in F6Publishing: 11] [Article Influence: 3.0] [Reference Citation Analysis]
2 Li H, Dawood M, Khayat MM, Farek JR, Jhangiani SN, Khan ZM, Mitani T, Coban-Akdemir Z, Lupski JR, Venner E, Posey JE, Sabo A, Gibbs RA. Exome variant discrepancies due to reference-genome differences. Am J Hum Genet 2021;108:1239-50. [PMID: 34129815 DOI: 10.1016/j.ajhg.2021.05.011] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 1.0] [Reference Citation Analysis]
3 Romasko EJ, Devkota B, Biswas S, Jayaraman V, Rajagopalan R, Dulik MC, Thom CS, Choi J, Jairam S, Scarano MI, Krantz ID, Spinner NB, Conlin LK, Lambert MP. Utility and limitations of exome sequencing in the molecular diagnosis of pediatric inherited platelet disorders. Am J Hematol 2018;93:8-16. [PMID: 28960434 DOI: 10.1002/ajh.24917] [Cited by in Crossref: 15] [Cited by in F6Publishing: 15] [Article Influence: 3.0] [Reference Citation Analysis]
4 Spangenberg L, Guecaimburú R, Tapié A, Vivas S, Rodríguez S, Graña M, Naya H, Raggio V. Novel frameshift mutation in PURA gene causes severe encephalopathy of unclear cause. Mol Genet Genomic Med 2021;9:e1622. [PMID: 33750045 DOI: 10.1002/mgg3.1622] [Reference Citation Analysis]
5 Douzgou S, Chervinsky E, Gyftodimou Y, Kitsiou-Tzeli S, Shalev S, Kanavakis E, Donnai D, Clayton-Smith J. Dysmorphology services: a snapshot of current practices and a vision for the future. Clin Genet 2016;89:27-33. [PMID: 25683496 DOI: 10.1111/cge.12571] [Cited by in Crossref: 3] [Article Influence: 0.4] [Reference Citation Analysis]
6 Maroofian R, Gubas A, Kaiyrzhanov R, Scala M, Hundallah K, Severino M, Abdel-Hamid MS, Rosenfeld JA, Ebrahimi-Fakhari D, Ali Z, Rahim F, Houlden H, Tooze SA, Alsaleh NS, Zaki MS. Homozygous missense WIPI2 variants cause a congenital disorder of autophagy with neurodevelopmental impairments of variable clinical severity and disease course. Brain Commun 2021;3:fcab183. [PMID: 34557665 DOI: 10.1093/braincomms/fcab183] [Reference Citation Analysis]
7 Mauring L, Porter LF, Pelletier V, Riehm A, Leuvrey AS, Gouronc A, Studer F, Stoetzel C, Dollfus H, Muller J. Atypical Retinal Phenotype in a Patient With Alström Syndrome and Biallelic Novel Pathogenic Variants in ALMS1, Including a de novo Variation. Front Genet 2020;11:938. [PMID: 32973878 DOI: 10.3389/fgene.2020.00938] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 0.5] [Reference Citation Analysis]
8 Thevenon J, Duffourd Y, Masurel-Paulet A, Lefebvre M, Feillet F, El Chehadeh-Djebbar S, St-Onge J, Steinmetz A, Huet F, Chouchane M, Darmency-Stamboul V, Callier P, Thauvin-Robinet C, Faivre L, Rivière JB. Diagnostic odyssey in severe neurodevelopmental disorders: toward clinical whole-exome sequencing as a first-line diagnostic test. Clin Genet 2016;89:700-7. [PMID: 26757139 DOI: 10.1111/cge.12732] [Cited by in Crossref: 136] [Cited by in F6Publishing: 121] [Article Influence: 22.7] [Reference Citation Analysis]
9 Gruber C, Bogunovic D. Incomplete penetrance in primary immunodeficiency: a skeleton in the closet. Hum Genet 2020;139:745-57. [PMID: 32067110 DOI: 10.1007/s00439-020-02131-9] [Cited by in Crossref: 22] [Cited by in F6Publishing: 16] [Article Influence: 11.0] [Reference Citation Analysis]
10 Husain RA, Grimmel M, Wagner M, Hennings JC, Marx C, Feichtinger RG, Saadi A, Rostásy K, Radelfahr F, Bevot A, Döbler-Neumann M, Hartmann H, Colleaux L, Cordts I, Kobeleva X, Darvish H, Bakhtiari S, Kruer MC, Besse A, Ng AC, Chiang D, Bolduc F, Tafakhori A, Mane S, Ghasemi Firouzabadi S, Huebner AK, Buchert R, Beck-Woedl S, Müller AJ, Laugwitz L, Nägele T, Wang ZQ, Strom TM, Sturm M, Meitinger T, Klockgether T, Riess O, Klopstock T, Brandl U, Hübner CA, Deschauer M, Mayr JA, Bonnen PE, Krägeloh-Mann I, Wortmann SB, Haack TB. Bi-allelic HPDL Variants Cause a Neurodegenerative Disease Ranging from Neonatal Encephalopathy to Adolescent-Onset Spastic Paraplegia. Am J Hum Genet 2020;107:364-73. [PMID: 32707086 DOI: 10.1016/j.ajhg.2020.06.015] [Cited by in Crossref: 9] [Cited by in F6Publishing: 9] [Article Influence: 4.5] [Reference Citation Analysis]
11 Lee HF, Chi CS, Tsai CR. Diagnostic yield and treatment impact of whole-genome sequencing in paediatric neurological disorders. Dev Med Child Neurol 2021;63:934-8. [PMID: 33244750 DOI: 10.1111/dmcn.14722] [Reference Citation Analysis]
12 Morales-Rosado JA, Goel K, Zhang L, Åkerblom A, Baheti S, Black JL, Eriksson N, Wallentin L, James S, Storey RF, Goodman SG, Jenkins GD, Eckloff BW, Bielinski SJ, Sicotte H, Johnson S, Roger VL, Wang L, Weinshilboum R, Klee EW, Rihal CS, Pereira NL. Next-Generation Sequencing of CYP2C19 in Stent Thrombosis: Implications for Clopidogrel Pharmacogenomics. Cardiovasc Drugs Ther 2021;35:549-59. [PMID: 32623598 DOI: 10.1007/s10557-020-06988-w] [Cited by in Crossref: 2] [Cited by in F6Publishing: 2] [Article Influence: 1.0] [Reference Citation Analysis]
13 Cooney E, Bi W, Schlesinger AE, Vinson S, Potocki L. Novel EED mutation in patient with Weaver syndrome. Am J Med Genet A 2017;173:541-5. [PMID: 27868325 DOI: 10.1002/ajmg.a.38055] [Cited by in Crossref: 34] [Cited by in F6Publishing: 30] [Article Influence: 5.7] [Reference Citation Analysis]
14 Lupski JR. Clan genomics: From OMIM phenotypic traits to genes and biology. Am J Med Genet A 2021;185:3294-313. [PMID: 34405553 DOI: 10.1002/ajmg.a.62434] [Cited by in Crossref: 3] [Article Influence: 3.0] [Reference Citation Analysis]
15 Reinstein E. Challenges of using next generation sequencing in newborn screening. Genet Res (Camb) 2015;97:e21. [PMID: 26521961 DOI: 10.1017/S0016672315000178] [Cited by in Crossref: 10] [Cited by in F6Publishing: 6] [Article Influence: 1.4] [Reference Citation Analysis]
16 Joseph L, Cankovic M, Caughron S, Chandra P, Emmadi R, Hagenkord J, Hallam S, Jewell KE, Klein RD, Pratt VM, Rothberg PG, Temple-Smolkin RL, Lyon E. The Spectrum of Clinical Utilities in Molecular Pathology Testing Procedures for Inherited Conditions and Cancer: A Report of the Association for Molecular Pathology. J Mol Diagn 2016;18:605-19. [PMID: 27542512 DOI: 10.1016/j.jmoldx.2016.05.007] [Cited by in Crossref: 31] [Cited by in F6Publishing: 31] [Article Influence: 5.2] [Reference Citation Analysis]
17 Chen CA, Lattier J, Zhu W, Rosenfeld J, Wang L, Scott TM, Du H, Patel V, Dang A, Magoulas P, Streff H, Sebastian J, Svihovec S, Curry K, Delgado MR, Hanchard NA, Lalani S, Marom R, Madan-Khetarpal S, Saenz M, Dai H, Meng L, Xia F, Bi W, Liu P, Posey JE, Scott DA, Lupski JR, Eng CM, Xiao R, Yuan B. Retrospective analysis of a clinical exome sequencing cohort reveals the mutational spectrum and identifies candidate disease-associated loci for BAFopathies. Genet Med 2021:S1098-3600(21)05245-X. [PMID: 34906496 DOI: 10.1016/j.gim.2021.09.017] [Reference Citation Analysis]
18 Berardo A, Quinzii CM. Redefining infantile-onset multisystem phenotypes of coenzyme Q10-deficiency in the next-generation sequencing era. J Transl Genet Genom 2020;4:22-35. [PMID: 33426503 DOI: 10.20517/jtgg.2020.02] [Cited by in Crossref: 3] [Cited by in F6Publishing: 3] [Article Influence: 1.5] [Reference Citation Analysis]
19 Bao M, Li P, Li Q, Chen H, Zhong Y, Li S, Jin L, Wang W, Chen Z, Zhong J, Geng B, Fan Y, Yang X, Cai J. Genetic screening for monogenic hypertension in hypertensive individuals in a clinical setting. J Med Genet 2020;57:571-80. [PMID: 32561571 DOI: 10.1136/jmedgenet-2019-106145] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 0.5] [Reference Citation Analysis]
20 Martin HC, Gardner EJ, Samocha KE, Kaplanis J, Akawi N, Sifrim A, Eberhardt RY, Tavares ALT, Neville MDC, Niemi MEK, Gallone G, McRae J, Wright CF, FitzPatrick DR, Firth HV, Hurles ME; Deciphering Developmental Disorders Study. The contribution of X-linked coding variation to severe developmental disorders. Nat Commun 2021;12:627. [PMID: 33504798 DOI: 10.1038/s41467-020-20852-3] [Cited by in Crossref: 2] [Cited by in F6Publishing: 2] [Article Influence: 2.0] [Reference Citation Analysis]
21 Najafi K, Mehrjoo Z, Ardalani F, Ghaderi-Sohi S, Kariminejad A, Kariminejad R, Najmabadi H. Identifying the causes of recurrent pregnancy loss in consanguineous couples using whole exome sequencing on the products of miscarriage with no chromosomal abnormalities. Sci Rep 2021;11:6952. [PMID: 33772059 DOI: 10.1038/s41598-021-86309-9] [Reference Citation Analysis]
22 Emrick LT, Rosenfeld JA, Lalani SR, Jain M, Desai NK, Larson A, Kripps K, Vanderver A, Taft RJ, Bluske K, Perry D, Nagakura H, Immken LL, Burrage LC, Bacino CA, Belmont JW, Network UD, Lee B. Microdeletions excluding YWHAE and PAFAH1B1 cause a unique leukoencephalopathy: further delineation of the 17p13.3 microdeletion spectrum. Genet Med 2019;21:1652-6. [PMID: 30568308 DOI: 10.1038/s41436-018-0358-0] [Cited by in Crossref: 2] [Cited by in F6Publishing: 3] [Article Influence: 0.5] [Reference Citation Analysis]
23 Lassmann T, Francis RW, Weeks A, Tang D, Jamieson SE, Broley S, Dawkins HJS, Dreyer L, Goldblatt J, Groza T, Kamien B, Kiraly-Borri C, McKenzie F, Murphy L, Pachter N, Pathak G, Poulton C, Samanek A, Skoss R, Slee J, Townshend S, Ward M, Baynam GS, Blackwell JM. A flexible computational pipeline for research analyses of unsolved clinical exome cases. NPJ Genom Med 2020;5:54. [PMID: 33303739 DOI: 10.1038/s41525-020-00161-w] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 0.5] [Reference Citation Analysis]
24 Álvaro-Sánchez S, Abreu-Rodríguez I, Abulí A, Serra-Juhe C, Garrido-Navas MDC. Current Status of Genetic Counselling for Rare Diseases in Spain. Diagnostics (Basel) 2021;11:2320. [PMID: 34943558 DOI: 10.3390/diagnostics11122320] [Reference Citation Analysis]
25 Mahler EA, Johannsen J, Tsiakas K, Kloth K, Lüttgen S, Mühlhausen C, Alhaddad B, Haack TB, Strom TM, Kortüm F, Meitinger T, Muntau AC, Santer R, Kubisch C, Lessel D, Denecke J, Hempel M. Exome Sequencing in Children. Dtsch Arztebl Int 2019;116:197-204. [PMID: 31056085 DOI: 10.3238/arztebl.2019.0197] [Cited by in Crossref: 4] [Cited by in F6Publishing: 2] [Article Influence: 2.0] [Reference Citation Analysis]
26 Solomon BD. Genomics ruins a genre. Per Med 2016;13:221-4. [PMID: 29767603 DOI: 10.2217/pme-2016-0001] [Reference Citation Analysis]
27 Hu X, Guo R, Guo J, Qi Z, Li W, Hao C. Parallel Tests of Whole Exome Sequencing and Copy Number Variant Sequencing Increase the Diagnosis Yields of Rare Pediatric Disorders. Front Genet 2020;11:473. [PMID: 32595695 DOI: 10.3389/fgene.2020.00473] [Cited by in Crossref: 4] [Cited by in F6Publishing: 2] [Article Influence: 2.0] [Reference Citation Analysis]
28 Grandval P, Fabre A, Béroud C, Olschwang S. Consideration surrounding incidental findings throughout multigene panel testing in cancer genetics. Clin Genet 2016;89:267-8. [DOI: 10.1111/cge.12672] [Cited by in Crossref: 1] [Article Influence: 0.1] [Reference Citation Analysis]
29 Rowlands CF, Baralle D, Ellingford JM. Machine Learning Approaches for the Prioritization of Genomic Variants Impacting Pre-mRNA Splicing. Cells 2019;8:E1513. [PMID: 31779139 DOI: 10.3390/cells8121513] [Cited by in Crossref: 23] [Cited by in F6Publishing: 15] [Article Influence: 7.7] [Reference Citation Analysis]
30 Holm IA, Agrawal PB, Ceyhan-Birsoy O, Christensen KD, Fayer S, Frankel LA, Genetti CA, Krier JB, LaMay RC, Levy HL, McGuire AL, Parad RB, Park PJ, Pereira S, Rehm HL, Schwartz TS, Waisbren SE, Yu TW, Green RC, Beggs AH; BabySeq Project Team. The BabySeq project: implementing genomic sequencing in newborns. BMC Pediatr 2018;18:225. [PMID: 29986673 DOI: 10.1186/s12887-018-1200-1] [Cited by in Crossref: 44] [Cited by in F6Publishing: 38] [Article Influence: 11.0] [Reference Citation Analysis]
31 Capuano A, Bucciotti F, Farwell KD, Tippin Davis B, Mroske C, Hulick PJ, Weissman SM, Gao Q, Spessotto P, Colombatti A, Doliana R. Diagnostic Exome Sequencing Identifies a Novel Gene, EMILIN1, Associated with Autosomal-Dominant Hereditary Connective Tissue Disease. Hum Mutat 2016;37:84-97. [PMID: 26462740 DOI: 10.1002/humu.22920] [Cited by in Crossref: 25] [Cited by in F6Publishing: 24] [Article Influence: 3.6] [Reference Citation Analysis]
32 Punj S, Akkari Y, Huang J, Yang F, Creason A, Pak C, Potter A, Dorschner MO, Nickerson DA, Robertson PD, Jarvik GP, Amendola LM, Schleit J, Simpson DK, Rope AF, Reiss J, Kauffman T, Gilmore MJ, Himes P, Wilfond B, Goddard KAB, Richards CS. Preconception Carrier Screening by Genome Sequencing: Results from the Clinical Laboratory. Am J Hum Genet 2018;102:1078-89. [PMID: 29754767 DOI: 10.1016/j.ajhg.2018.04.004] [Cited by in Crossref: 20] [Cited by in F6Publishing: 13] [Article Influence: 5.0] [Reference Citation Analysis]
33 Landstrom AP, Dailey-Schwartz AL, Rosenfeld JA, Yang Y, McLean MJ, Miyake CY, Valdes SO, Fan Y, Allen HD, Penny DJ, Kim JJ. Interpreting Incidentally Identified Variants in Genes Associated With Catecholaminergic Polymorphic Ventricular Tachycardia in a Large Cohort of Clinical Whole-Exome Genetic Test Referrals. Circ Arrhythm Electrophysiol 2017;10:e004742. [PMID: 28404607 DOI: 10.1161/CIRCEP.116.004742] [Reference Citation Analysis]
34 Lebedeva A, Shaykhutdinova Y, Seriak D, Ignatova E, Rozhavskaya E, Vardhan D, Manicka S, Sharova M, Grigoreva T, Baranova A, Mileyko V, Ivanov M. Incidental germline findings during molecular profiling of tumor tissues for precision oncology: molecular survey and methodological obstacles. J Transl Med 2022;20:29. [PMID: 35033101 DOI: 10.1186/s12967-022-03230-z] [Reference Citation Analysis]
35 Schoch K, Esteves C, Bican A, Spillmann R, Cope H, McConkie-Rosell A, Walley N, Fernandez L, Kohler JN, Bonner D, Reuter C, Stong N, Mulvihill JJ, Novacic D, Wolfe L, Abdelbaki A, Toro C, Tifft C, Malicdan M, Gahl W, Liu P, Newman J, Goldstein DB, Hom J, Sampson J, Wheeler MT, Cogan J, Bernstein JA, Adams DR, McCray AT, Shashi V; Undiagnosed Diseases Network. Clinical sites of the Undiagnosed Diseases Network: unique contributions to genomic medicine and science. Genet Med 2021;23:259-71. [PMID: 33093671 DOI: 10.1038/s41436-020-00984-z] [Cited by in Crossref: 1] [Article Influence: 0.5] [Reference Citation Analysis]
36 Tumienė B, Maver A, Writzl K, Hodžić A, Čuturilo G, Kuzmanić-Šamija R, Čulić V, Peterlin B. Diagnostic exome sequencing of syndromic epilepsy patients in clinical practice. Clin Genet 2018;93:1057-62. [PMID: 29286531 DOI: 10.1111/cge.13203] [Cited by in Crossref: 21] [Cited by in F6Publishing: 17] [Article Influence: 5.3] [Reference Citation Analysis]
37 Lenz D, McClean P, Kansu A, Bonnen PE, Ranucci G, Thiel C, Straub BK, Harting I, Alhaddad B, Dimitrov B, Kotzaeridou U, Wenning D, Iorio R, Himes RW, Kuloğlu Z, Blakely EL, Taylor RW, Meitinger T, Kölker S, Prokisch H, Hoffmann GF, Haack TB, Staufner C. SCYL1 variants cause a syndrome with low γ-glutamyl-transferase cholestasis, acute liver failure, and neurodegeneration (CALFAN). Genet Med 2018;20:1255-65. [PMID: 29419818 DOI: 10.1038/gim.2017.260] [Cited by in Crossref: 25] [Cited by in F6Publishing: 22] [Article Influence: 6.3] [Reference Citation Analysis]
38 Pennington JW, Karavite DJ, Krause EM, Miller J, Bernhardt BA, Grundmeier RW. Genomic decision support needs in pediatric primary care. J Am Med Inform Assoc 2017;24:851-6. [PMID: 28339689 DOI: 10.1093/jamia/ocw184] [Cited by in Crossref: 4] [Cited by in F6Publishing: 3] [Article Influence: 1.0] [Reference Citation Analysis]
39 Zech M, Boesch S, Jochim A, Weber S, Meindl T, Schormair B, Wieland T, Lunetta C, Sansone V, Messner M, Mueller J, Ceballos-Baumann A, Strom TM, Colombo R, Poewe W, Haslinger B, Winkelmann J. Clinical exome sequencing in early-onset generalized dystonia and large-scale resequencing follow-up. Mov Disord 2017;32:549-59. [PMID: 27666935 DOI: 10.1002/mds.26808] [Cited by in Crossref: 60] [Cited by in F6Publishing: 58] [Article Influence: 10.0] [Reference Citation Analysis]
40 Vassy JL, Davis JK, Kirby C, Richardson IJ, Green RC, McGuire AL, Ubel PA. How Primary Care Providers Talk to Patients about Genome Sequencing Results: Risk, Rationale, and Recommendation. J Gen Intern Med 2018;33:877-85. [PMID: 29374360 DOI: 10.1007/s11606-017-4295-4] [Cited by in Crossref: 9] [Cited by in F6Publishing: 7] [Article Influence: 2.3] [Reference Citation Analysis]
41 Esmaeeli Nieh S, Madou MR, Sirajuddin M, Fregeau B, McKnight D, Lexa K, Strober J, Spaeth C, Hallinan BE, Smaoui N, Pappas JG, Burrow TA, McDonald MT, Latibashvili M, Leshinsky-Silver E, Lev D, Blumkin L, Vale RD, Barkovich AJ, Sherr EH. De novo mutations in KIF1A cause progressive encephalopathy and brain atrophy. Ann Clin Transl Neurol 2015;2:623-35. [PMID: 26125038 DOI: 10.1002/acn3.198] [Cited by in Crossref: 65] [Cited by in F6Publishing: 55] [Article Influence: 9.3] [Reference Citation Analysis]
42 Dlamini N. Next generation genetic considerations in paediatric stroke. European Journal of Paediatric Neurology 2018;22:577-8. [DOI: 10.1016/j.ejpn.2018.05.015] [Cited by in Crossref: 1] [Article Influence: 0.3] [Reference Citation Analysis]
43 Lee Y, Park S, Lee JS, Kim SY, Cho J, Yoo Y, Lee S, Yoo T, Lee M, Seo J, Lee J, Kneissl J, Lee J, Jeon H, Jeon EY, Hong SE, Kim E, Kim H, Kim WJ, Kim JS, Ko JM, Cho A, Lim BC, Kim WS, Choi M, Chae JH. Genomic profiling of 553 uncharacterized neurodevelopment patients reveals a high proportion of recessive pathogenic variant carriers in an outbred population. Sci Rep 2020;10:1413. [PMID: 31996704 DOI: 10.1038/s41598-020-58101-8] [Reference Citation Analysis]
44 Reuter CM, Kohler JN, Bonner D, Zastrow D, Fernandez L, Dries A, Marwaha S, Davidson J, Brokamp E, Herzog M, Hong J, Macnamara E, Rosenfeld JA, Schoch K, Spillmann R, Loscalzo J, Krier J, Stoler J, Sweetser D, Palmer CGS, Phillips JA, Shashi V, Adams DA, Yang Y, Ashley EA, Fisher PG, Mulvihill JJ, Bernstein JA, Wheeler MT; Undiagnosed Diseases Network. Yield of whole exome sequencing in undiagnosed patients facing insurance coverage barriers to genetic testing. J Genet Couns 2019;28:1107-18. [PMID: 31478310 DOI: 10.1002/jgc4.1161] [Cited by in Crossref: 12] [Cited by in F6Publishing: 10] [Article Influence: 4.0] [Reference Citation Analysis]
45 Pena LDM, Jiang YH, Schoch K, Spillmann RC, Walley N, Stong N, Rapisardo Horn S, Sullivan JA, McConkie-Rosell A, Kansagra S, Smith EC, El-Dairi M, Bellet J, Keels MA, Jasien J, Kranz PG, Noel R, Nagaraj SK, Lark RK, Wechsler DSG, Del Gaudio D, Leung ML, Hendon LG, Parker CC, Jones KL, Goldstein DB, Shashi V; Undiagnosed Diseases Network Members. Looking beyond the exome: a phenotype-first approach to molecular diagnostic resolution in rare and undiagnosed diseases. Genet Med 2018;20:464-9. [PMID: 28914269 DOI: 10.1038/gim.2017.128] [Cited by in Crossref: 28] [Cited by in F6Publishing: 23] [Article Influence: 5.6] [Reference Citation Analysis]
46 Zeng C, Bastarache LA, Tao R, Venner E, Hebbring S, Andujar JD, Bland ST, Crosslin DR, Pratap S, Cooley A, Pacheco JA, Christensen KD, Perez E, Zawatsky CLB, Witkowski L, Zouk H, Weng C, Leppig KA, Sleiman PMA, Hakonarson H, Williams MS, Luo Y, Jarvik GP, Green RC, Chung WK, Gharavi AG, Lennon NJ, Rehm HL, Gibbs RA, Peterson JF, Roden DM, Wiesner GL, Denny JC. Association of Pathogenic Variants in Hereditary Cancer Genes With Multiple Diseases. JAMA Oncol 2022. [PMID: 35446370 DOI: 10.1001/jamaoncol.2022.0373] [Reference Citation Analysis]
47 Normand EA, Braxton A, Nassef S, Ward PA, Vetrini F, He W, Patel V, Qu C, Westerfield LE, Stover S, Dharmadhikari AV, Muzny DM, Gibbs RA, Dai H, Meng L, Wang X, Xiao R, Liu P, Bi W, Xia F, Walkiewicz M, Van den Veyver IB, Eng CM, Yang Y. Clinical exome sequencing for fetuses with ultrasound abnormalities and a suspected Mendelian disorder. Genome Med 2018;10:74. [PMID: 30266093 DOI: 10.1186/s13073-018-0582-x] [Cited by in Crossref: 50] [Cited by in F6Publishing: 42] [Article Influence: 12.5] [Reference Citation Analysis]
48 Westerfield LE, Braxton AA, Walkiewicz M. Prenatal Diagnostic Exome Sequencing: a Review. Curr Genet Med Rep 2017;5:75-83. [DOI: 10.1007/s40142-017-0120-y] [Cited by in Crossref: 3] [Article Influence: 0.6] [Reference Citation Analysis]
49 Wang X, Posey JE, Rosenfeld JA, Bacino CA, Scaglia F, Immken L, Harris JM, Hickey SE, Mosher TM, Slavotinek A, Zhang J, Beuten J, Leduc MS, He W, Vetrini F, Walkiewicz MA, Bi W, Xiao R, Liu P, Shao Y, Gezdirici A, Gulec EY, Jiang Y, Darilek SA, Hansen AW, Khayat MM, Pehlivan D, Piard J, Muzny DM, Hanchard N, Belmont JW, Van Maldergem L, Gibbs RA, Eldomery MK, Akdemir ZC, Adesina AM, Chen S, Lee YC, Lee B, Lupski JR, Eng CM, Xia F, Yang Y, Graham BH, Moretti P; Undiagnosed Diseases Network. Phenotypic expansion in DDX3X - a common cause of intellectual disability in females. Ann Clin Transl Neurol 2018;5:1277-85. [PMID: 30349862 DOI: 10.1002/acn3.622] [Cited by in Crossref: 35] [Cited by in F6Publishing: 26] [Article Influence: 8.8] [Reference Citation Analysis]
50 [DOI: 10.1101/039651] [Cited by in Crossref: 3] [Cited by in F6Publishing: 1] [Reference Citation Analysis]
51 Mederer T, Schmitteckert S, Volz J, Martínez C, Röth R, Thumberger T, Eckstein V, Scheuerer J, Thöni C, Lasitschka F, Carstensen L, Günther P, Holland-Cunz S, Hofstra R, Brosens E, Rosenfeld JA, Schaaf CP, Schriemer D, Ceccherini I, Rusmini M, Tilghman J, Luzón-Toro B, Torroglosa A, Borrego S, Sze-Man Tang C, Garcia-Barceló M, Tam P, Paramasivam N, Bewerunge-Hudler M, De La Torre C, Gretz N, Rappold GA, Romero P, Niesler B. A complementary study approach unravels novel players in the pathoetiology of Hirschsprung disease. PLoS Genet 2020;16:e1009106. [PMID: 33151932 DOI: 10.1371/journal.pgen.1009106] [Cited by in Crossref: 2] [Cited by in F6Publishing: 2] [Article Influence: 1.0] [Reference Citation Analysis]
52 Burrage LC, Reynolds JJ, Baratang NV, Phillips JB, Wegner J, McFarquhar A, Higgs MR, Christiansen AE, Lanza DG, Seavitt JR, Jain M, Li X, Parry DA, Raman V, Chitayat D, Chinn IK, Bertuch AA, Karaviti L, Schlesinger AE, Earl D, Bamshad M, Savarirayan R, Doddapaneni H, Muzny D, Jhangiani SN, Eng CM, Gibbs RA, Bi W, Emrick L, Rosenfeld JA, Postlethwait J, Westerfield M, Dickinson ME, Beaudet AL, Ranza E, Huber C, Cormier-Daire V, Shen W, Mao R, Heaney JD, Orange JS, Bertola D, Yamamoto GL, Baratela WAR, Butler MG, Ali A, Adeli M, Cohn DH, Krakow D, Jackson AP, Lees M, Offiah AC, Carlston CM, Carey JC, Stewart GS, Bacino CA, Campeau PM, Lee B; University of Washington Center for Mendelian Genomics., Undiagnosed Diseases Network. Bi-allelic Variants in TONSL Cause SPONASTRIME Dysplasia and a Spectrum of Skeletal Dysplasia Phenotypes. Am J Hum Genet 2019;104:422-38. [PMID: 30773277 DOI: 10.1016/j.ajhg.2019.01.007] [Cited by in Crossref: 9] [Cited by in F6Publishing: 6] [Article Influence: 3.0] [Reference Citation Analysis]
53 Ku C, Cooper DN, Patrinos GP. The Rise and Rise of Exome Sequencing. Public Health Genomics 2017;19:315-24. [DOI: 10.1159/000450991] [Cited by in Crossref: 10] [Cited by in F6Publishing: 6] [Article Influence: 1.7] [Reference Citation Analysis]
54 Mckeown C, Connors S, Stapleton R, Morgan T, Hayes I, Neas K, Dixon J, Gibson K, Markie DM, Tsai P, Blenkiron C, Fitzgerald S, Shields P, Yap P, Lawrence B, Print C, Robertson SP. A pilot study of exome sequencing in a diverse New Zealand cohort with undiagnosed disorders and cancer. Journal of the Royal Society of New Zealand 2017;48:262-79. [DOI: 10.1080/03036758.2018.1464033] [Cited by in Crossref: 2] [Cited by in F6Publishing: 2] [Article Influence: 0.5] [Reference Citation Analysis]
55 Bajaj S, Shah P, Seenappa V, Kalyankar J, Hingwala D. Exome Sequencing Reveals Diagnosis of LAMA2-Muscular Dystrophy and Possibility of Coexisting Bethlem Myopathy in a Neonate. Journal of Pediatric Neurology. [DOI: 10.1055/s-0041-1731025] [Reference Citation Analysis]
56 Streff H, Bi W, Colón AG, Adesina AM, Miyake CY, Lalani SR. Amish nemaline myopathy and dilated cardiomyopathy caused by a homozygous contiguous gene deletion of TNNT1 and TNNI3 in a Mennonite child. Eur J Med Genet 2019;62:103567. [PMID: 30395933 DOI: 10.1016/j.ejmg.2018.11.001] [Cited by in Crossref: 5] [Cited by in F6Publishing: 3] [Article Influence: 1.3] [Reference Citation Analysis]
57 Vahidnezhad H, Youssefian L, Zeinali S, Saeidian AH, Sotoudeh S, Mozafari N, Abiri M, Kajbafzadeh A, Barzegar M, Ertel A, Fortina P, Uitto J. Dystrophic Epidermolysis Bullosa: COL7A1 Mutation Landscape in a Multi-Ethnic Cohort of 152 Extended Families with High Degree of Customary Consanguineous Marriages. Journal of Investigative Dermatology 2017;137:660-9. [DOI: 10.1016/j.jid.2016.10.023] [Cited by in Crossref: 30] [Cited by in F6Publishing: 28] [Article Influence: 6.0] [Reference Citation Analysis]
58 Harel T, Yoon WH, Garone C, Gu S, Coban-Akdemir Z, Eldomery MK, Posey JE, Jhangiani SN, Rosenfeld JA, Cho MT, Fox S, Withers M, Brooks SM, Chiang T, Duraine L, Erdin S, Yuan B, Shao Y, Moussallem E, Lamperti C, Donati MA, Smith JD, McLaughlin HM, Eng CM, Walkiewicz M, Xia F, Pippucci T, Magini P, Seri M, Zeviani M, Hirano M, Hunter JV, Srour M, Zanigni S, Lewis RA, Muzny DM, Lotze TE, Boerwinkle E, Gibbs RA, Hickey SE, Graham BH, Yang Y, Buhas D, Martin DM, Potocki L, Graziano C, Bellen HJ, Lupski JR; Baylor-Hopkins Center for Mendelian Genomics., University of Washington Center for Mendelian Genomics. Recurrent De Novo and Biallelic Variation of ATAD3A, Encoding a Mitochondrial Membrane Protein, Results in Distinct Neurological Syndromes. Am J Hum Genet 2016;99:831-45. [PMID: 27640307 DOI: 10.1016/j.ajhg.2016.08.007] [Cited by in Crossref: 88] [Cited by in F6Publishing: 75] [Article Influence: 14.7] [Reference Citation Analysis]
59 Ferrer A, Schultz-Rogers L, Kaiwar C, Kemppainen JL, Klee EW, Gavrilova RH. Three rare disease diagnoses in one patient through exome sequencing. Cold Spring Harb Mol Case Stud 2019;5:a004390. [PMID: 31427378 DOI: 10.1101/mcs.a004390] [Cited by in Crossref: 2] [Cited by in F6Publishing: 2] [Article Influence: 0.7] [Reference Citation Analysis]
60 Lupski JR. Cognitive phenotypes and genomic copy number variations. JAMA 2015;313:2029-30. [PMID: 26010630 DOI: 10.1001/jama.2015.4846] [Cited by in Crossref: 7] [Cited by in F6Publishing: 8] [Article Influence: 1.0] [Reference Citation Analysis]
61 Slavotinek A. Clinical care models in the era of next-generation sequencing. Mol Genet Genomic Med 2016;4:239-42. [PMID: 27247951 DOI: 10.1002/mgg3.225] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 0.2] [Reference Citation Analysis]
62 Vears DF, Borry P, Savulescu J, Koplin JJ. Old Challenges or New Issues? Genetic Health Professionals' Experiences Obtaining Informed Consent in Diagnostic Genomic Sequencing. AJOB Empir Bioeth 2021;12:12-23. [PMID: 33017265 DOI: 10.1080/23294515.2020.1823906] [Cited by in Crossref: 3] [Cited by in F6Publishing: 3] [Article Influence: 1.5] [Reference Citation Analysis]
63 Lee JH. Invertebrate Model Organisms as a Platform to Investigate Rare Human Neurological Diseases. Exp Neurobiol 2022;31:1-16. [PMID: 35256540 DOI: 10.5607/en22003] [Reference Citation Analysis]
64 Bourchany A, Thauvin-Robinet C, Lehalle D, Bruel AL, Masurel-Paulet A, Jean N, Nambot S, Willems M, Lambert L, El Chehadeh-Djebbar S, Schaefer E, Jaquette A, St-Onge J, Poe C, Jouan T, Chevarin M, Callier P, Mosca-Boidron AL, Laurent N, Lefebvre M, Huet F, Houcinat N, Moutton S, Philippe C, Tran-Mau-Them F, Vitobello A, Kuentz P, Duffourd Y, Rivière JB, Thevenon J, Faivre L. Reducing diagnostic turnaround times of exome sequencing for families requiring timely diagnoses. Eur J Med Genet 2017;60:595-604. [PMID: 28807864 DOI: 10.1016/j.ejmg.2017.08.011] [Cited by in Crossref: 12] [Cited by in F6Publishing: 10] [Article Influence: 2.4] [Reference Citation Analysis]
65 McInerney-Leo AM, Wheeler L, Marshall MS, Anderson LK, Zankl A, Brown MA, Leo PJ, Wicking C, Duncan EL. Homozygous variant in C21orf2 in a case of Jeune syndrome with severe thoracic involvement: Extending the phenotypic spectrum. Am J Med Genet A 2017;173:1698-704. [PMID: 28422394 DOI: 10.1002/ajmg.a.38215] [Cited by in Crossref: 6] [Cited by in F6Publishing: 6] [Article Influence: 1.2] [Reference Citation Analysis]
66 Cassa CA, Weghorn D, Balick DJ, Jordan DM, Nusinow D, Samocha KE, O'Donnell-Luria A, MacArthur DG, Daly MJ, Beier DR, Sunyaev SR. Estimating the selective effects of heterozygous protein-truncating variants from human exome data. Nat Genet 2017;49:806-10. [PMID: 28369035 DOI: 10.1038/ng.3831] [Cited by in Crossref: 89] [Cited by in F6Publishing: 51] [Article Influence: 17.8] [Reference Citation Analysis]
67 Miller DT, Lee K, Gordon AS, Amendola LM, Adelman K, Bale SJ, Chung WK, Gollob MH, Harrison SM, Herman GE, Hershberger RE, Klein TE, McKelvey K, Richards CS, Vlangos CN, Stewart DR, Watson MS, Martin CL; ACMG Secondary Findings Working Group. Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2021 update: a policy statement of the American College of Medical Genetics and Genomics (ACMG). Genet Med 2021;23:1391-8. [PMID: 34012069 DOI: 10.1038/s41436-021-01171-4] [Cited by in Crossref: 9] [Cited by in F6Publishing: 7] [Article Influence: 9.0] [Reference Citation Analysis]
68 Harper AR, Parikh VN, Goldfeder RL, Caleshu C, Ashley EA. Delivering Clinical Grade Sequencing and Genetic Test Interpretation for Cardiovascular Medicine. Circ Cardiovasc Genet 2017;10:e001221. [PMID: 28411191 DOI: 10.1161/CIRCGENETICS.116.001221] [Cited by in Crossref: 6] [Cited by in F6Publishing: 4] [Article Influence: 2.0] [Reference Citation Analysis]
69 Reddy HM, Cho KA, Lek M, Estrella E, Valkanas E, Jones MD, Mitsuhashi S, Darras BT, Amato AA, Lidov HG, Brownstein CA, Margulies DM, Yu TW, Salih MA, Kunkel LM, MacArthur DG, Kang PB. The sensitivity of exome sequencing in identifying pathogenic mutations for LGMD in the United States. J Hum Genet 2017;62:243-52. [PMID: 27708273 DOI: 10.1038/jhg.2016.116] [Cited by in Crossref: 43] [Cited by in F6Publishing: 36] [Article Influence: 7.2] [Reference Citation Analysis]
70 Li Y, Zeng Y, Chen Z, Xin H, Li X. Progressive pseudorheumatoid dysplasia confirmed by whole-exon sequencing in a Chinese adult before corrective surgery. J Orthop Surg Res 2019;14:16. [PMID: 30635069 DOI: 10.1186/s13018-019-1061-9] [Cited by in Crossref: 1] [Article Influence: 0.3] [Reference Citation Analysis]
71 de Wit MC, Srebniak MI, Joosten M, Govaerts LCP, Kornelisse RF, Papatsonis DNM, de Graaff K, Knapen MFCM, Bruggenwirth HT, de Vries FAT, Van Veen S, Van Opstal D, Galjaard RJH, Go ATJI. Prenatal and postnatal findings in small-for-gestational-age fetuses without structural ultrasound anomalies at 18-24 weeks: Findings in structurally normal SGA fetuses. Ultrasound Obstet Gynecol 2017;49:342-8. [DOI: 10.1002/uog.15949] [Cited by in Crossref: 12] [Cited by in F6Publishing: 6] [Article Influence: 2.4] [Reference Citation Analysis]
72 Haghighi A, Krier JB, Toth-Petroczy A, Cassa CA, Frank NY, Carmichael N, Fieg E, Bjonnes A, Mohanty A, Briere LC, Lincoln S, Lucia S, Gupta VA, Söylemez O, Sutti S, Kooshesh K, Qiu H, Fay CJ, Perroni V, Valerius J, Hanna M, Frank A, Ouahed J, Snapper SB, Pantazi A, Chopra SS, Leshchiner I, Stitziel NO, Feldweg A, Mannstadt M, Loscalzo J, Sweetser DA, Liao E, Stoler JM, Nowak CB, Sanchez-Lara PA, Klein OD, Perry H, Patsopoulos NA, Raychaudhuri S, Goessling W, Green RC, Seidman CE, MacRae CA, Sunyaev SR, Maas RL, Vuzman D; Undiagnosed Diseases Network, Brigham and Women’s Hospital FaceBase Project, Brigham Genomic Medicine (BGM). An integrated clinical program and crowdsourcing strategy for genomic sequencing and Mendelian disease gene discovery. NPJ Genom Med 2018;3:21. [PMID: 30131872 DOI: 10.1038/s41525-018-0060-9] [Cited by in Crossref: 17] [Cited by in F6Publishing: 11] [Article Influence: 4.3] [Reference Citation Analysis]
73 Tarailo-Graovac M, Shyr C, Ross CJ, Horvath GA, Salvarinova R, Ye XC, Zhang LH, Bhavsar AP, Lee JJ, Drögemöller BI, Abdelsayed M, Alfadhel M, Armstrong L, Baumgartner MR, Burda P, Connolly MB, Cameron J, Demos M, Dewan T, Dionne J, Evans AM, Friedman JM, Garber I, Lewis S, Ling J, Mandal R, Mattman A, McKinnon M, Michoulas A, Metzger D, Ogunbayo OA, Rakic B, Rozmus J, Ruben P, Sayson B, Santra S, Schultz KR, Selby K, Shekel P, Sirrs S, Skrypnyk C, Superti-Furga A, Turvey SE, Van Allen MI, Wishart D, Wu J, Wu J, Zafeiriou D, Kluijtmans L, Wevers RA, Eydoux P, Lehman AM, Vallance H, Stockler-Ipsiroglu S, Sinclair G, Wasserman WW, van Karnebeek CD. Exome Sequencing and the Management of Neurometabolic Disorders. N Engl J Med 2016;374:2246-55. [PMID: 27276562 DOI: 10.1056/NEJMoa1515792] [Cited by in Crossref: 181] [Cited by in F6Publishing: 93] [Article Influence: 30.2] [Reference Citation Analysis]
74 Burrage LC, Charng WL, Eldomery MK, Willer JR, Davis EE, Lugtenberg D, Zhu W, Leduc MS, Akdemir ZC, Azamian M, Zapata G, Hernandez PP, Schoots J, de Munnik SA, Roepman R, Pearring JN, Jhangiani S, Katsanis N, Vissers LE, Brunner HG, Beaudet AL, Rosenfeld JA, Muzny DM, Gibbs RA, Eng CM, Xia F, Lalani SR, Lupski JR, Bongers EM, Yang Y. De Novo GMNN Mutations Cause Autosomal-Dominant Primordial Dwarfism Associated with Meier-Gorlin Syndrome. Am J Hum Genet 2015;97:904-13. [PMID: 26637980 DOI: 10.1016/j.ajhg.2015.11.006] [Cited by in Crossref: 42] [Cited by in F6Publishing: 39] [Article Influence: 7.0] [Reference Citation Analysis]
75 Vetro A, Goidin D, Lesende I, Limongelli I, Ranzani GN, Novara F, Bonaglia MC, Rinaldi B, Franchi F, Manolakos E, Lonardo F, Scarano F, Scarano G, Costantino L, Tedeschi S, Giglio S, Zuffardi O. Diagnostic application of a capture based NGS test for the concurrent detection of variants in sequence and copy number as well as LOH. Clin Genet 2018;93:545-56. [PMID: 28556904 DOI: 10.1111/cge.13060] [Cited by in Crossref: 10] [Cited by in F6Publishing: 9] [Article Influence: 2.0] [Reference Citation Analysis]
76 Guo W, Zhu X, Yan L, Qiao J. The present and future of whole-exome sequencing in studying and treating human reproductive disorders. Journal of Genetics and Genomics 2018;45:517-25. [DOI: 10.1016/j.jgg.2018.08.004] [Cited by in Crossref: 7] [Cited by in F6Publishing: 6] [Article Influence: 1.8] [Reference Citation Analysis]
77 Oren O, Blankstein R, Bhatt DL. Incidental Imaging Findings in Clinical Trials. JAMA 2020;323:603. [DOI: 10.1001/jama.2019.21813] [Cited by in Crossref: 4] [Cited by in F6Publishing: 2] [Article Influence: 2.0] [Reference Citation Analysis]
78 Dunn P, Albury CL, Maksemous N, Benton MC, Sutherland HG, Smith RA, Haupt LM, Griffiths LR. Next Generation Sequencing Methods for Diagnosis of Epilepsy Syndromes. Front Genet 2018;9:20. [PMID: 29467791 DOI: 10.3389/fgene.2018.00020] [Cited by in Crossref: 43] [Cited by in F6Publishing: 34] [Article Influence: 10.8] [Reference Citation Analysis]
79 Burke W, Korngiebel DM. Closing the gap between knowledge and clinical application: challenges for genomic translation. PLoS Genet 2015;11:e1004978. [PMID: 25719903 DOI: 10.1371/journal.pgen.1004978] [Cited by in Crossref: 26] [Cited by in F6Publishing: 21] [Article Influence: 3.7] [Reference Citation Analysis]
80 Tumiene B, Čiuladaitė Ž, Preikšaitienė E, Mameniškienė R, Utkus A, Kučinskas V. Phenotype comparison confirms ZMYND11 as a critical gene for 10p15.3 microdeletion syndrome. J Appl Genet 2017;58:467-74. [PMID: 28933030 DOI: 10.1007/s13353-017-0408-3] [Cited by in Crossref: 12] [Cited by in F6Publishing: 11] [Article Influence: 2.4] [Reference Citation Analysis]
81 Drury S, Williams H, Trump N, Boustred C, Lench N, Scott RH, Chitty LS; GOSGene. Exome sequencing for prenatal diagnosis of fetuses with sonographic abnormalities: Exome sequencing for prenatal diagnosis. Prenat Diagn 2015;35:1010-7. [DOI: 10.1002/pd.4675] [Cited by in Crossref: 141] [Cited by in F6Publishing: 107] [Article Influence: 20.1] [Reference Citation Analysis]
82 Narravula A, Garber KB, Askree SH, Hegde M, Hall PL. Variants of uncertain significance in newborn screening disorders: implications for large-scale genomic sequencing. Genet Med 2017;19:77-82. [DOI: 10.1038/gim.2016.67] [Cited by in Crossref: 20] [Cited by in F6Publishing: 18] [Article Influence: 3.3] [Reference Citation Analysis]
83 Díaz-de Usera A, Lorenzo-Salazar JM, Rubio-Rodríguez LA, Muñoz-Barrera A, Guillen-Guio B, Marcelino-Rodríguez I, García-Olivares V, Mendoza-Alvarez A, Corrales A, Íñigo-Campos A, González-Montelongo R, Flores C. Evaluation of Whole-Exome Enrichment Solutions: Lessons from the High-End of the Short-Read Sequencing Scale. J Clin Med 2020;9:E3656. [PMID: 33202991 DOI: 10.3390/jcm9113656] [Cited by in Crossref: 1] [Cited by in F6Publishing: 2] [Article Influence: 0.5] [Reference Citation Analysis]
84 Niazi R, Gonzalez MA, Balciuniene J, Evans P, Sarmady M, Abou Tayoun AN. The Development and Validation of Clinical Exome-Based Panels Using ExomeSlicer: Considerations and Proof of Concept Using an Epilepsy Panel. J Mol Diagn 2018;20:643-52. [PMID: 29936260 DOI: 10.1016/j.jmoldx.2018.05.003] [Cited by in Crossref: 11] [Cited by in F6Publishing: 9] [Article Influence: 2.8] [Reference Citation Analysis]
85 Wang Q, Shashikant CS, Jensen M, Altman NS, Girirajan S. Novel metrics to measure coverage in whole exome sequencing datasets reveal local and global non-uniformity. Sci Rep 2017;7:885. [PMID: 28408746 DOI: 10.1038/s41598-017-01005-x] [Cited by in Crossref: 21] [Cited by in F6Publishing: 23] [Article Influence: 4.2] [Reference Citation Analysis]
86 Lu QK, Zhao N, Lv YS, Gong WK, Wang HY, Tong QH, Lai XM, Liu RR, Fang MY, Zhang JG, Du ZF, Zhang XN. A novel CRX mutation by whole-exome sequencing in an autosomal dominant cone-rod dystrophy pedigree. Int J Ophthalmol 2015;8:1112-7. [PMID: 26682157 DOI: 10.3980/j.issn.2222-3959.2015.06.06] [Cited by in F6Publishing: 2] [Reference Citation Analysis]
87 Sukenik-Halevy R, Ruhrman-Shahar N, Orenstein N, Gonzaga-Jauregui C, Shuldiner AR, Magal N, Hagari O, Azulay N, Lidzbarsky GA, Bazak L, Basel-Salmon L. The diagnostic efficacy of exome data analysis using fixed neurodevelopmental gene lists: Implications for prenatal setting. Prenat Diagn 2021;41:701-7. [PMID: 33686681 DOI: 10.1002/pd.5929] [Cited by in Crossref: 1] [Article Influence: 1.0] [Reference Citation Analysis]
88 Armour CM, Smith A, Hartley T, Chardon JW, Sawyer S, Schwartzentruber J, Hennekam R, Majewski J, Bulman DE, Suri M, Boycott KM; FORGE Canada Consortium. Syndrome disintegration: Exome sequencing reveals that Fitzsimmons syndrome is a co-occurrence of multiple events: Syndrome Disintegration: Exome Sequencing Reveals. Am J Med Genet 2016;170:1820-5. [DOI: 10.1002/ajmg.a.37684] [Cited by in Crossref: 16] [Cited by in F6Publishing: 13] [Article Influence: 2.7] [Reference Citation Analysis]
89 Jamuar SS, Tan EC. Clinical application of next-generation sequencing for Mendelian diseases. Hum Genomics 2015;9:10. [PMID: 26076878 DOI: 10.1186/s40246-015-0031-5] [Cited by in Crossref: 60] [Cited by in F6Publishing: 52] [Article Influence: 8.6] [Reference Citation Analysis]
90 Helbig KL, Farwell Hagman KD, Shinde DN, Mroske C, Powis Z, Li S, Tang S, Helbig I. Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy. Genet Med 2016;18:898-905. [DOI: 10.1038/gim.2015.186] [Cited by in Crossref: 184] [Cited by in F6Publishing: 161] [Article Influence: 30.7] [Reference Citation Analysis]
91 Cao Y, Tokita MJ, Chen ES, Ghosh R, Chen T, Feng Y, Gorman E, Gibellini F, Ward PA, Braxton A, Wang X, Meng L, Xiao R, Bi W, Xia F, Eng CM, Yang Y, Gambin T, Shaw C, Liu P, Stankiewicz P. A clinical survey of mosaic single nucleotide variants in disease-causing genes detected by exome sequencing. Genome Med 2019;11:48. [PMID: 31349857 DOI: 10.1186/s13073-019-0658-2] [Cited by in Crossref: 20] [Cited by in F6Publishing: 18] [Article Influence: 6.7] [Reference Citation Analysis]
92 Levenson D. Whole-exome sequencing effective at diagnosing elusive genetic disorders: tests diagnose about 25% of patients, find a variety of mutation types. Am J Med Genet A 2015;167A:vii-viii. [PMID: 25604662 DOI: 10.1002/ajmg.a.36965] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 0.1] [Reference Citation Analysis]
93 Du Q, Zhang D, Zhuang Y, Xia Q, Wen T, Jia H. The Molecular Genetics of Marfan Syndrome. Int J Med Sci 2021;18:2752-66. [PMID: 34220303 DOI: 10.7150/ijms.60685] [Reference Citation Analysis]
94 Karaca E, Posey JE, Coban Akdemir Z, Pehlivan D, Harel T, Jhangiani SN, Bayram Y, Song X, Bahrambeigi V, Yuregir OO, Bozdogan S, Yesil G, Isikay S, Muzny D, Gibbs RA, Lupski JR. Phenotypic expansion illuminates multilocus pathogenic variation. Genet Med 2018;20:1528-37. [PMID: 29790871 DOI: 10.1038/gim.2018.33] [Cited by in Crossref: 60] [Cited by in F6Publishing: 52] [Article Influence: 15.0] [Reference Citation Analysis]
95 Hughes BG, Harrison PM, Hekimi S. Estimating the occurrence of primary ubiquinone deficiency by analysis of large-scale sequencing data. Sci Rep 2017;7:17744. [PMID: 29255295 DOI: 10.1038/s41598-017-17564-y] [Cited by in Crossref: 19] [Cited by in F6Publishing: 13] [Article Influence: 3.8] [Reference Citation Analysis]
96 eMERGE Clinical Annotation Working Group. Frequency of genomic secondary findings among 21,915 eMERGE network participants. Genet Med 2020;22:1470-7. [PMID: 32546831 DOI: 10.1038/s41436-020-0810-9] [Cited by in Crossref: 14] [Cited by in F6Publishing: 11] [Article Influence: 7.0] [Reference Citation Analysis]
97 Leduc MS, Chao HT, Qu C, Walkiewicz M, Xiao R, Magoulas P, Pan S, Beuten J, He W, Bernstein JA, Schaaf CP, Scaglia F, Eng CM, Yang Y. Clinical and molecular characterization of de novo loss of function variants in HNRNPU. Am J Med Genet A 2017;173:2680-9. [PMID: 28815871 DOI: 10.1002/ajmg.a.38388] [Cited by in Crossref: 20] [Cited by in F6Publishing: 18] [Article Influence: 4.0] [Reference Citation Analysis]
98 Peng J, Li Q, Shang X. Investigations on factors influencing HPO-based semantic similarity calculation. J Biomed Semantics 2017;8:34. [PMID: 29297376 DOI: 10.1186/s13326-017-0144-y] [Cited by in Crossref: 2] [Cited by in F6Publishing: 2] [Article Influence: 0.4] [Reference Citation Analysis]
99 Cohen M, Persky R, Stegemann R, Hernández-Ramírez LC, Zeltser D, Lodish MB, Chen A, Keil MF, Tatsi C, Faucz FR, Buchner DA, Stratakis CA, Tiosano D. Germline USP8 Mutation Associated With Pediatric Cushing Disease and Other Clinical Features: A New Syndrome. J Clin Endocrinol Metab 2019;104:4676-82. [PMID: 31162547 DOI: 10.1210/jc.2019-00697] [Cited by in Crossref: 22] [Cited by in F6Publishing: 21] [Article Influence: 11.0] [Reference Citation Analysis]
100 Thuriot F, Buote C, Gravel E, Chénier S, Désilets V, Maranda B, Waters PJ, Jacques PE, Lévesque S. Clinical validity of phenotype-driven analysis software PhenoVar as a diagnostic aid for clinical geneticists in the interpretation of whole-exome sequencing data. Genet Med 2018;20:942-9. [PMID: 29388948 DOI: 10.1038/gim.2017.239] [Cited by in Crossref: 10] [Cited by in F6Publishing: 10] [Article Influence: 2.5] [Reference Citation Analysis]
101 Oei K, Hayeems RZ, Ungar WJ, Cohn RD, Cohen E. Genetic Testing among Children in a Complex Care Program. Children (Basel) 2017;4:E42. [PMID: 28531152 DOI: 10.3390/children4050042] [Cited by in Crossref: 4] [Cited by in F6Publishing: 3] [Article Influence: 0.8] [Reference Citation Analysis]
102 Mardian EB, Lines MA, Moore GP; Care4Rare Consortium. Autosomal dominant transmission of transient neonatal lactic acidosis: a case report. BMC Pediatr 2020;20:177. [PMID: 32312239 DOI: 10.1186/s12887-020-02085-x] [Reference Citation Analysis]
103 Tenorio J, Alarcón P, Arias P, Dapía I, García-Miñaur S, Palomares Bralo M, Campistol J, Climent S, Valenzuela I, Ramos S, Monseny AM, Grondona FL, Botet J, Serrano M, Solís M, Santos-Simarro F, Álvarez S, Teixidó-Tura G, Fernández Jaén A, Gordo G, Bardón Rivera MB, Nevado J, Hernández A, Cigudosa JC, Ruiz-Pérez VL, Tizzano EF, Lapunzina P; SOGRI Consortium. Further delineation of neuropsychiatric findings in Tatton-Brown-Rahman syndrome due to disease-causing variants in DNMT3A: seven new patients. Eur J Hum Genet 2020;28:469-79. [PMID: 31685998 DOI: 10.1038/s41431-019-0485-3] [Cited by in Crossref: 4] [Cited by in F6Publishing: 3] [Article Influence: 1.3] [Reference Citation Analysis]
104 Cheng H, Dharmadhikari AV, Varland S, Ma N, Domingo D, Kleyner R, Rope AF, Yoon M, Stray-Pedersen A, Posey JE, Crews SR, Eldomery MK, Akdemir ZC, Lewis AM, Sutton VR, Rosenfeld JA, Conboy E, Agre K, Xia F, Walkiewicz M, Longoni M, High FA, van Slegtenhorst MA, Mancini GMS, Finnila CR, van Haeringen A, den Hollander N, Ruivenkamp C, Naidu S, Mahida S, Palmer EE, Murray L, Lim D, Jayakar P, Parker MJ, Giusto S, Stracuzzi E, Romano C, Beighley JS, Bernier RA, Küry S, Nizon M, Corbett MA, Shaw M, Gardner A, Barnett C, Armstrong R, Kassahn KS, Van Dijck A, Vandeweyer G, Kleefstra T, Schieving J, Jongmans MJ, de Vries BBA, Pfundt R, Kerr B, Rojas SK, Boycott KM, Person R, Willaert R, Eichler EE, Kooy RF, Yang Y, Wu JC, Lupski JR, Arnesen T, Cooper GM, Chung WK, Gecz J, Stessman HAF, Meng L, Lyon GJ. Truncating Variants in NAA15 Are Associated with Variable Levels of Intellectual Disability, Autism Spectrum Disorder, and Congenital Anomalies. Am J Hum Genet 2018;102:985-94. [PMID: 29656860 DOI: 10.1016/j.ajhg.2018.03.004] [Cited by in Crossref: 26] [Cited by in F6Publishing: 20] [Article Influence: 6.5] [Reference Citation Analysis]
105 Friedman JM, Cornel MC, Goldenberg AJ, Lister KJ, Sénécal K, Vears DF; Global Alliance for Genomics and Health Regulatory and Ethics Working Group Paediatric Task Team. Genomic newborn screening: public health policy considerations and recommendations. BMC Med Genomics 2017;10:9. [PMID: 28222731 DOI: 10.1186/s12920-017-0247-4] [Cited by in Crossref: 38] [Cited by in F6Publishing: 35] [Article Influence: 7.6] [Reference Citation Analysis]
106 Wright CF, Fitzgerald TW, Jones WD, Clayton S, McRae JF, van Kogelenberg M, King DA, Ambridge K, Barrett DM, Bayzetinova T, Bevan AP, Bragin E, Chatzimichali EA, Gribble S, Jones P, Krishnappa N, Mason LE, Miller R, Morley KI, Parthiban V, Prigmore E, Rajan D, Sifrim A, Swaminathan GJ, Tivey AR, Middleton A, Parker M, Carter NP, Barrett JC, Hurles ME, FitzPatrick DR, Firth HV; DDD study. Genetic diagnosis of developmental disorders in the DDD study: a scalable analysis of genome-wide research data. Lancet 2015;385:1305-14. [PMID: 25529582 DOI: 10.1016/S0140-6736(14)61705-0] [Cited by in Crossref: 422] [Cited by in F6Publishing: 232] [Article Influence: 52.8] [Reference Citation Analysis]
107 van der Schoot V, Haer-Wigman L, Feenstra I, Tammer F, Oerlemans AJM, van Koolwijk MPA, van Agt F, Arens YHJM, Brunner HG, Vissers LELM, Yntema HG. Lessons learned from unsolicited findings in clinical exome sequencing of 16,482 individuals. Eur J Hum Genet 2021. [PMID: 34697415 DOI: 10.1038/s41431-021-00964-0] [Reference Citation Analysis]
108 Daich Varela M, Motta FL, Webster AR, Arno G. A rare canonical splice-site variant in VPS13B causes attenuated Cohen syndrome. Ophthalmic Genet 2021;:1-6. [PMID: 34425733 DOI: 10.1080/13816810.2021.1970194] [Reference Citation Analysis]
109 Poirier K, Hubert L, Viot G, Rio M, Billuart P, Besmond C, Bienvenu T. CSNK2B splice site mutations in patients cause intellectual disability with or without myoclonic epilepsy. Hum Mutat 2017;38:932-41. [PMID: 28585349 DOI: 10.1002/humu.23270] [Cited by in Crossref: 18] [Cited by in F6Publishing: 16] [Article Influence: 3.6] [Reference Citation Analysis]
110 Bolkier Y, Barel O, Marek-Yagel D, Atias-Varon D, Kagan M, Vardi A, Mishali D, Katz U, Salem Y, Tirosh-Wagner T, Jacobson JM, Raas-Rothschild A, Chorin O, Eliyahu A, Sarouf Y, Shlomovitz O, Veber A, Shalva N, Javasky E, Ben Moshe Y, Staretz-Chacham O, Rechavi G, Mane S, Anikster Y, Vivante A, Pode-Shakked B. Whole-exome sequencing reveals a monogenic cause in 56% of individuals with laterality disorders and associated congenital heart defects. J Med Genet 2021:jmedgenet-2021-107775. [PMID: 34215651 DOI: 10.1136/jmedgenet-2021-107775] [Reference Citation Analysis]
111 Nizon M, Laugel V, Flanigan KM, Pastore M, Waldrop MA, Rosenfeld JA, Marom R, Xiao R, Gerard A, Pichon O, Le Caignec C, Gérard M, Dieterich K, Truitt Cho M, McWalter K, Hiatt S, Thompson ML, Bézieau S, Wadley A, Wierenga KJ, Egly JM, Isidor B. Variants in MED12L, encoding a subunit of the mediator kinase module, are responsible for intellectual disability associated with transcriptional defect. Genet Med 2019;21:2713-22. [PMID: 31155615 DOI: 10.1038/s41436-019-0557-3] [Cited by in Crossref: 11] [Cited by in F6Publishing: 10] [Article Influence: 3.7] [Reference Citation Analysis]
112 Pehlivan D, Bayram Y, Gunes N, Coban Akdemir Z, Shukla A, Bierhals T, Tabakci B, Sahin Y, Gezdirici A, Fatih JM, Gulec EY, Yesil G, Punetha J, Ocak Z, Grochowski CM, Karaca E, Albayrak HM, Radhakrishnan P, Erdem HB, Sahin I, Yildirim T, Bayhan IA, Bursali A, Elmas M, Yuksel Z, Ozdemir O, Silan F, Yildiz O, Yesilbas O, Isikay S, Balta B, Gu S, Jhangiani SN, Doddapaneni H, Hu J, Muzny DM, Boerwinkle E, Gibbs RA, Tsiakas K, Hempel M, Girisha KM, Gul D, Posey JE, Elcioglu NH, Tuysuz B, Lupski JR; Baylor-Hopkins Center for Mendelian Genomics. The Genomics of Arthrogryposis, a Complex Trait: Candidate Genes and Further Evidence for Oligogenic Inheritance. Am J Hum Genet 2019;105:132-50. [PMID: 31230720 DOI: 10.1016/j.ajhg.2019.05.015] [Cited by in Crossref: 39] [Cited by in F6Publishing: 36] [Article Influence: 13.0] [Reference Citation Analysis]
113 Lefebvre M, Bruel AL, Tisserant E, Bourgon N, Duffourd Y, Collardeau-Frachon S, Attie-Bitach T, Kuentz P, Assoum M, Schaefer E, El Chehadeh S, Antal MC, Kremer V, Girard-Lemaitre F, Mandel JL, Lehalle D, Nambot S, Jean-Marçais N, Houcinat N, Moutton S, Marle N, Lambert L, Jonveaux P, Foliguet B, Mazutti JP, Gaillard D, Alanio E, Poirisier C, Lebre AS, Aubert-Lenoir M, Arbez-Gindre F, Odent S, Quélin C, Loget P, Fradin M, Willems M, Bigi N, Perez MJ, Blesson S, Francannet C, Beaufrere AM, Patrier-Sallebert S, Guerrot AM, Goldenberg A, Brehin AC, Lespinasse J, Touraine R, Capri Y, Saint-Frison MH, Laurent N, Philippe C, Tran Mau-Them F, Thevenon J, Faivre L, Thauvin-Robinet C, Vitobello A. Genotype-first in a cohort of 95 fetuses with multiple congenital abnormalities: when exome sequencing reveals unexpected fetal phenotype-genotype correlations. J Med Genet 2021;58:400-13. [PMID: 32732226 DOI: 10.1136/jmedgenet-2020-106867] [Cited by in Crossref: 1] [Article Influence: 0.5] [Reference Citation Analysis]
114 Spangenberg L, Graña M, Mansilla S, Martínez J, Tapié A, Greif G, Montano N, Vaglio A, Gueçaimburú R, Robello C, Castro L, Quijano C, Raggio V, Naya H. Deep sequencing discovery of causal mtDNA mutations in a patient with unspecific neurological disease. Mitochondrion 2019;46:337-44. [DOI: 10.1016/j.mito.2018.09.004] [Cited by in Crossref: 2] [Cited by in F6Publishing: 2] [Article Influence: 0.7] [Reference Citation Analysis]
115 Jacobs MF, Robinson D, Wu Y, Opipari VP, Mody R. Homozygous ATM mutation due to germline uniparental isodisomy in patient with T acute lymphoblastic leukemia and hepatosplenic T-cell lymphoma. Cancer Genetics 2022. [DOI: 10.1016/j.cancergen.2022.05.039] [Reference Citation Analysis]
116 Yavarna T, Al-Dewik N, Al-Mureikhi M, Ali R, Al-Mesaifri F, Mahmoud L, Shahbeck N, Lakhani S, AlMulla M, Nawaz Z, Vitazka P, Alkuraya FS, Ben-Omran T. High diagnostic yield of clinical exome sequencing in Middle Eastern patients with Mendelian disorders. Hum Genet. 2015;134:967-980. [PMID: 26077850 DOI: 10.1007/s00439-015-1575-0] [Cited by in Crossref: 109] [Cited by in F6Publishing: 104] [Article Influence: 15.6] [Reference Citation Analysis]
117 Acuna-Hidalgo R, Veltman JA, Hoischen A. New insights into the generation and role of de novo mutations in health and disease. Genome Biol 2016;17:241. [PMID: 27894357 DOI: 10.1186/s13059-016-1110-1] [Cited by in Crossref: 204] [Cited by in F6Publishing: 149] [Article Influence: 34.0] [Reference Citation Analysis]
118 Brown SDM, Holmes CC, Mallon AM, Meehan TF, Smedley D, Wells S. High-throughput mouse phenomics for characterizing mammalian gene function. Nat Rev Genet 2018;19:357-70. [PMID: 29626206 DOI: 10.1038/s41576-018-0005-2] [Cited by in Crossref: 45] [Cited by in F6Publishing: 29] [Article Influence: 15.0] [Reference Citation Analysis]
119 Soemedi R, Cygan KJ, Rhine CL, Wang J, Bulacan C, Yang J, Bayrak-Toydemir P, McDonald J, Fairbrother WG. Pathogenic variants that alter protein code often disrupt splicing. Nat Genet 2017;49:848-55. [PMID: 28416821 DOI: 10.1038/ng.3837] [Cited by in Crossref: 109] [Cited by in F6Publishing: 84] [Article Influence: 21.8] [Reference Citation Analysis]
120 Murray MF, Kenny EE, Ritchie MD, Rader DJ, Bale AE, Giovanni MA, Abul-husn NS. COVID-19 outcomes and the human genome. Genet Med 2020;22:1175-7. [DOI: 10.1038/s41436-020-0832-3] [Cited by in Crossref: 21] [Cited by in F6Publishing: 14] [Article Influence: 10.5] [Reference Citation Analysis]
121 Gruber CN, Calis JJA, Buta S, Evrony G, Martin JC, Uhl SA, Caron R, Jarchin L, Dunkin D, Phelps R, Webb BD, Saland JM, Merad M, Orange JS, Mace EM, Rosenberg BR, Gelb BD, Bogunovic D. Complex Autoinflammatory Syndrome Unveils Fundamental Principles of JAK1 Kinase Transcriptional and Biochemical Function. Immunity 2020;53:672-684.e11. [PMID: 32750333 DOI: 10.1016/j.immuni.2020.07.006] [Cited by in Crossref: 14] [Cited by in F6Publishing: 14] [Article Influence: 7.0] [Reference Citation Analysis]
122 Tsiplova K, Zur RM, Marshall CR, Stavropoulos DJ, Pereira SL, Merico D, Young EJ, Sung WWL, Scherer SW, Ungar WJ. A microcosting and cost–consequence analysis of clinical genomic testing strategies in autism spectrum disorder. Genet Med 2017;19:1268-75. [DOI: 10.1038/gim.2017.47] [Cited by in Crossref: 35] [Cited by in F6Publishing: 34] [Article Influence: 7.0] [Reference Citation Analysis]
123 Toledo RA, Dahia PL. Next-generation sequencing for the diagnosis of hereditary pheochromocytoma and paraganglioma syndromes. Curr Opin Endocrinol Diabetes Obes 2015;22:169-79. [PMID: 25871962 DOI: 10.1097/MED.0000000000000150] [Cited by in Crossref: 28] [Cited by in F6Publishing: 10] [Article Influence: 4.7] [Reference Citation Analysis]
124 Stark Z, Schofield D, Alam K, Wilson W, Mupfeki N, Macciocca I, Shrestha R, White SM, Gaff C. Prospective comparison of the cost-effectiveness of clinical whole-exome sequencing with that of usual care overwhelmingly supports early use and reimbursement. Genet Med 2017;19:867-74. [DOI: 10.1038/gim.2016.221] [Cited by in Crossref: 127] [Cited by in F6Publishing: 103] [Article Influence: 25.4] [Reference Citation Analysis]
125 Bernhardt BA, Roche MI, Perry DL, Scollon SR, Tomlinson AN, Skinner D. Experiences with obtaining informed consent for genomic sequencing. Am J Med Genet A 2015;167A:2635-46. [PMID: 26198374 DOI: 10.1002/ajmg.a.37256] [Cited by in Crossref: 66] [Cited by in F6Publishing: 64] [Article Influence: 9.4] [Reference Citation Analysis]
126 Yildirim M, Ayvaz DC, Konuskan B, Gocmen R, Tezcan I, Topcu M, Topaloglu H, Anlar B. Neurologic Involvement in Primary Immunodeficiency Disorders. J Child Neurol 2018;33:320-8. [PMID: 29421957 DOI: 10.1177/0883073817754176] [Cited by in Crossref: 6] [Cited by in F6Publishing: 3] [Article Influence: 1.5] [Reference Citation Analysis]
127 Black HA, Parry D, Atanur SS, Ross D, Rose E, Russell H, Stock S, Warner J, Porteous M, Aitman TJ, Evans MJ. De novo mutations in autosomal recessive congenital malformations. Genet Med 2016;18:1325-6. [PMID: 27280866 DOI: 10.1038/gim.2016.62] [Cited by in Crossref: 5] [Cited by in F6Publishing: 4] [Article Influence: 0.8] [Reference Citation Analysis]
128 Maffucci P, Filion CA, Boisson B, Itan Y, Shang L, Casanova JL, Cunningham-Rundles C. Genetic Diagnosis Using Whole Exome Sequencing in Common Variable Immunodeficiency. Front Immunol. 2016;7:220. [PMID: 27379089 DOI: 10.3389/fimmu.2016.00220] [Cited by in Crossref: 146] [Cited by in F6Publishing: 130] [Article Influence: 24.3] [Reference Citation Analysis]
129 Glanzmann B, Uren C, de Villiers N, van Coller A, Glashoff RH, Urban M, Hoal EG, Esser MM, Möller M, Kinnear CJ. Primary immunodeficiency diseases in a tuberculosis endemic region: challenges and opportunities. Genes Immun 2019;20:447-54. [PMID: 30185814 DOI: 10.1038/s41435-018-0041-0] [Cited by in Crossref: 6] [Cited by in F6Publishing: 4] [Article Influence: 1.5] [Reference Citation Analysis]
130 Lupski JR, Liu P, Stankiewicz P, Carvalho CMB, Posey JE. Clinical genomics and contextualizing genome variation in the diagnostic laboratory. Expert Rev Mol Diagn 2020;20:995-1002. [PMID: 32954863 DOI: 10.1080/14737159.2020.1826312] [Cited by in Crossref: 5] [Cited by in F6Publishing: 4] [Article Influence: 2.5] [Reference Citation Analysis]
131 Baynam G, Pachter N, McKenzie F, Townshend S, Slee J, Kiraly-Borri C, Vasudevan A, Hawkins A, Broley S, Schofield L, Verhoef H, Walker CE, Molster C, Blackwell JM, Jamieson S, Tang D, Lassmann T, Mina K, Beilby J, Davis M, Laing N, Murphy L, Weeramanthri T, Dawkins H, Goldblatt J. The rare and undiagnosed diseases diagnostic service - application of massively parallel sequencing in a state-wide clinical service. Orphanet J Rare Dis 2016;11:77. [PMID: 27287197 DOI: 10.1186/s13023-016-0462-7] [Cited by in Crossref: 35] [Cited by in F6Publishing: 30] [Article Influence: 5.8] [Reference Citation Analysis]
132 Zhang J, Gambin T, Yuan B, Szafranski P, Rosenfeld JA, Balwi MA, Alswaid A, Al-Gazali L, Shamsi AMA, Komara M, Ali BR, Roeder E, McAuley L, Roy DS, Manchester DK, Magoulas P, King LE, Hannig V, Bonneau D, Denommé-Pichon AS, Charif M, Besnard T, Bézieau S, Cogné B, Andrieux J, Zhu W, He W, Vetrini F, Ward PA, Cheung SW, Bi W, Eng CM, Lupski JR, Yang Y, Patel A, Lalani SR, Xia F, Stankiewicz P. Haploinsufficiency of the E3 ubiquitin-protein ligase gene TRIP12 causes intellectual disability with or without autism spectrum disorders, speech delay, and dysmorphic features. Hum Genet 2017;136:377-86. [PMID: 28251352 DOI: 10.1007/s00439-017-1763-1] [Cited by in Crossref: 23] [Cited by in F6Publishing: 21] [Article Influence: 4.6] [Reference Citation Analysis]
133 Lupski JR. 2018 Victor A. McKusick Leadership Award: Molecular Mechanisms for Genomic and Chromosomal Rearrangements. Am J Hum Genet 2019;104:391-406. [PMID: 30849326 DOI: 10.1016/j.ajhg.2018.12.018] [Cited by in Crossref: 8] [Cited by in F6Publishing: 5] [Article Influence: 2.7] [Reference Citation Analysis]
134 Koehly LM, Persky S, Spotts E, Acca G. Social and behavioral science priorities for genomic translation. Transl Behav Med 2018;8:137-43. [PMID: 29385587 DOI: 10.1093/tbm/ibx052] [Cited by in Crossref: 2] [Cited by in F6Publishing: 2] [Article Influence: 0.5] [Reference Citation Analysis]
135 Cheon JY, Mozersky J, Cook-Deegan R. Variants of uncertain significance in BRCA: a harbinger of ethical and policy issues to come? Genome Med 2014;6:121. [PMID: 25593598 DOI: 10.1186/s13073-014-0121-3] [Cited by in Crossref: 57] [Cited by in F6Publishing: 49] [Article Influence: 7.1] [Reference Citation Analysis]
136 Murdock DR, Jiang Y, Wangler M, Khayat MM, Sabo A, Juusola J, McWalter K, Schatz KS, Gunay-Aygun M, Gibbs RA. Xia-Gibbs syndrome in adulthood: a case report with insight into the natural history of the condition. Cold Spring Harb Mol Case Stud 2019;5:a003608. [PMID: 30622101 DOI: 10.1101/mcs.a003608] [Cited by in Crossref: 6] [Cited by in F6Publishing: 6] [Article Influence: 2.0] [Reference Citation Analysis]
137 Salfati EL, Spencer EG, Topol SE, Muse ED, Rueda M, Lucas JR, Wagner GN, Campman S, Topol EJ, Torkamani A. Re-analysis of whole-exome sequencing data uncovers novel diagnostic variants and improves molecular diagnostic yields for sudden death and idiopathic diseases. Genome Med 2019;11:83. [PMID: 31847883 DOI: 10.1186/s13073-019-0702-2] [Cited by in Crossref: 11] [Cited by in F6Publishing: 6] [Article Influence: 3.7] [Reference Citation Analysis]
138 Stray-Pedersen A, Sorte HS, Samarakoon P, Gambin T, Chinn IK, Coban Akdemir ZH, Erichsen HC, Forbes LR, Gu S, Yuan B, Jhangiani SN, Muzny DM, Rødningen OK, Sheng Y, Nicholas SK, Noroski LM, Seeborg FO, Davis CM, Canter DL, Mace EM, Vece TJ, Allen CE, Abhyankar HA, Boone PM, Beck CR, Wiszniewski W, Fevang B, Aukrust P, Tjønnfjord GE, Gedde-Dahl T, Hjorth-Hansen H, Dybedal I, Nordøy I, Jørgensen SF, Abrahamsen TG, Øverland T, Bechensteen AG, Skogen V, Osnes LTN, Kulseth MA, Prescott TE, Rustad CF, Heimdal KR, Belmont JW, Rider NL, Chinen J, Cao TN, Smith EA, Caldirola MS, Bezrodnik L, Lugo Reyes SO, Espinosa Rosales FJ, Guerrero-Cursaru ND, Pedroza LA, Poli CM, Franco JL, Trujillo Vargas CM, Aldave Becerra JC, Wright N, Issekutz TB, Issekutz AC, Abbott J, Caldwell JW, Bayer DK, Chan AY, Aiuti A, Cancrini C, Holmberg E, West C, Burstedt M, Karaca E, Yesil G, Artac H, Bayram Y, Atik MM, Eldomery MK, Ehlayel MS, Jolles S, Flatø B, Bertuch AA, Hanson IC, Zhang VW, Wong LJ, Hu J, Walkiewicz M, Yang Y, Eng CM, Boerwinkle E, Gibbs RA, Shearer WT, Lyle R, Orange JS, Lupski JR. Primary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disorders. J Allergy Clin Immunol 2017;139:232-45. [PMID: 27577878 DOI: 10.1016/j.jaci.2016.05.042] [Cited by in Crossref: 152] [Cited by in F6Publishing: 133] [Article Influence: 25.3] [Reference Citation Analysis]
139 Tan TY, Lunke S, Chong B, Phelan D, Fanjul-Fernandez M, Marum JE, Kumar VS, Stark Z, Yeung A, Brown NJ, Stutterd C, Delatycki MB, Sadedin S, Martyn M, Goranitis I, Thorne N, Gaff CL, White SM. A head-to-head evaluation of the diagnostic efficacy and costs of trio versus singleton exome sequencing analysis. Eur J Hum Genet 2019;27:1791-9. [PMID: 31320747 DOI: 10.1038/s41431-019-0471-9] [Cited by in Crossref: 10] [Cited by in F6Publishing: 8] [Article Influence: 3.3] [Reference Citation Analysis]
140 Sumazin P, Chen Y, Treviño LR, Sarabia SF, Hampton OA, Patel K, Mistretta T, Zorman B, Thompson P, Heczey A, Comerford S, Wheeler DA, Chintagumpala M, Meyers R, Rakheja D, Finegold MJ, Tomlinson G, Parsons DW, López‐terrada D. Genomic analysis of hepatoblastoma identifies distinct molecular and prognostic subgroups. Hepatology 2016;65:104-21. [DOI: 10.1002/hep.28888] [Cited by in Crossref: 84] [Cited by in F6Publishing: 77] [Article Influence: 14.0] [Reference Citation Analysis]
141 Bassett AS, Costain G, Marshall CR. Neuropsychiatric aspects of 22q11.2 deletion syndrome: considerations in the prenatal setting. Prenat Diagn 2017;37:61-9. [PMID: 27718271 DOI: 10.1002/pd.4935] [Cited by in Crossref: 10] [Cited by in F6Publishing: 8] [Article Influence: 1.7] [Reference Citation Analysis]
142 Wang W, Corominas R, Lin GN. De novo Mutations From Whole Exome Sequencing in Neurodevelopmental and Psychiatric Disorders: From Discovery to Application. Front Genet 2019;10:258. [PMID: 31001316 DOI: 10.3389/fgene.2019.00258] [Cited by in Crossref: 25] [Cited by in F6Publishing: 20] [Article Influence: 8.3] [Reference Citation Analysis]
143 Millan F, Cho MT, Retterer K, Monaghan KG, Bai R, Vitazka P, Everman DB, Smith B, Angle B, Roberts V, Immken L, Nagakura H, DiFazio M, Sherr E, Haverfield E, Friedman B, Telegrafi A, Juusola J, Chung WK, Bale S. Whole exome sequencing reveals de novo pathogenic variants in KAT6A as a cause of a neurodevelopmental disorder. Am J Med Genet A 2016;170:1791-8. [PMID: 27133397 DOI: 10.1002/ajmg.a.37670] [Cited by in Crossref: 31] [Cited by in F6Publishing: 31] [Article Influence: 5.2] [Reference Citation Analysis]
144 Harel T, Yesil G, Bayram Y, Coban-Akdemir Z, Charng WL, Karaca E, Al Asmari A, Eldomery MK, Hunter JV, Jhangiani SN, Rosenfeld JA, Pehlivan D, El-Hattab AW, Saleh MA, LeDuc CA, Muzny D, Boerwinkle E, Gibbs RA, Chung WK, Yang Y, Belmont JW, Lupski JR; Baylor-Hopkins Center for Mendelian Genomics. Monoallelic and Biallelic Variants in EMC1 Identified in Individuals with Global Developmental Delay, Hypotonia, Scoliosis, and Cerebellar Atrophy. Am J Hum Genet 2016;98:562-70. [PMID: 26942288 DOI: 10.1016/j.ajhg.2016.01.011] [Cited by in Crossref: 39] [Cited by in F6Publishing: 38] [Article Influence: 6.5] [Reference Citation Analysis]
145 Shashi V, McConkie-Rosell A, Schoch K, Kasturi V, Rehder C, Jiang YH, Goldstein DB, McDonald MT. Practical considerations in the clinical application of whole-exome sequencing. Clin Genet 2016;89:173-81. [PMID: 25678066 DOI: 10.1111/cge.12569] [Cited by in Crossref: 42] [Cited by in F6Publishing: 32] [Article Influence: 6.0] [Reference Citation Analysis]
146 Roche MI, Berg JS. Incidental Findings with Genomic Testing: Implications for Genetic Counseling Practice. Curr Genet Med Rep 2015;3:166-76. [PMID: 26566463 DOI: 10.1007/s40142-015-0075-9] [Cited by in Crossref: 57] [Cited by in F6Publishing: 48] [Article Influence: 8.1] [Reference Citation Analysis]
147 Vetrini F, D'Alessandro LC, Akdemir ZC, Braxton A, Azamian MS, Eldomery MK, Miller K, Kois C, Sack V, Shur N, Rijhsinghani A, Chandarana J, Ding Y, Holtzman J, Jhangiani SN, Muzny DM, Gibbs RA, Eng CM, Hanchard NA, Harel T, Rosenfeld JA, Belmont JW, Lupski JR, Yang Y. Bi-allelic Mutations in PKD1L1 Are Associated with Laterality Defects in Humans. Am J Hum Genet 2016;99:886-93. [PMID: 27616478 DOI: 10.1016/j.ajhg.2016.07.011] [Cited by in Crossref: 33] [Cited by in F6Publishing: 32] [Article Influence: 5.5] [Reference Citation Analysis]
148 Boone PM, Yuan B, Gu S, Ma Z, Gambin T, Gonzaga-Jauregui C, Jain M, Murdock TJ, White JJ, Jhangiani SN, Walker K, Wang Q, Muzny DM, Gibbs RA, Hejtmancik JF, Lupski JR, Posey JE, Lewis RA. Hutterite-type cataract maps to chromosome 6p21.32-p21.31, cosegregates with a homozygous mutation in LEMD2, and is associated with sudden cardiac death. Mol Genet Genomic Med 2016;4:77-94. [PMID: 26788539 DOI: 10.1002/mgg3.181] [Cited by in Crossref: 14] [Cited by in F6Publishing: 16] [Article Influence: 2.0] [Reference Citation Analysis]
149 Eldomery MK, Akdemir ZC, Vögtle FN, Charng WL, Mulica P, Rosenfeld JA, Gambin T, Gu S, Burrage LC, Al Shamsi A, Penney S, Jhangiani SN, Zimmerman HH, Muzny DM, Wang X, Tang J, Medikonda R, Ramachandran PV, Wong LJ, Boerwinkle E, Gibbs RA, Eng CM, Lalani SR, Hertecant J, Rodenburg RJ, Abdul-Rahman OA, Yang Y, Xia F, Wang MC, Lupski JR, Meisinger C, Sutton VR. MIPEP recessive variants cause a syndrome of left ventricular non-compaction, hypotonia, and infantile death. Genome Med 2016;8:106. [PMID: 27799064 DOI: 10.1186/s13073-016-0360-6] [Cited by in Crossref: 26] [Cited by in F6Publishing: 19] [Article Influence: 4.3] [Reference Citation Analysis]
150 Flex E, Martinelli S, Van Dijck A, Ciolfi A, Cecchetti S, Coluzzi E, Pannone L, Andreoli C, Radio FC, Pizzi S, Carpentieri G, Bruselles A, Catanzaro G, Pedace L, Miele E, Carcarino E, Ge X, Chijiwa C, Lewis MES, Meuwissen M, Kenis S, Van der Aa N, Larson A, Brown K, Wasserstein MP, Skotko BG, Begtrup A, Person R, Karayiorgou M, Roos JL, Van Gassen KL, Koopmans M, Bijlsma EK, Santen GWE, Barge-Schaapveld DQCM, Ruivenkamp CAL, Hoffer MJV, Lalani SR, Streff H, Craigen WJ, Graham BH, van den Elzen APM, Kamphuis DJ, Õunap K, Reinson K, Pajusalu S, Wojcik MH, Viberti C, Di Gaetano C, Bertini E, Petrucci S, De Luca A, Rota R, Ferretti E, Matullo G, Dallapiccola B, Sgura A, Walkiewicz M, Kooy RF, Tartaglia M. Aberrant Function of the C-Terminal Tail of HIST1H1E Accelerates Cellular Senescence and Causes Premature Aging. Am J Hum Genet 2019;105:493-508. [PMID: 31447100 DOI: 10.1016/j.ajhg.2019.07.007] [Cited by in Crossref: 23] [Cited by in F6Publishing: 21] [Article Influence: 7.7] [Reference Citation Analysis]
151 Li D, Yuan H, Ortiz-Gonzalez XR, Marsh ED, Tian L, McCormick EM, Kosobucki GJ, Chen W, Schulien AJ, Chiavacci R, Tankovic A, Naase C, Brueckner F, von Stülpnagel-Steinbeis C, Hu C, Kusumoto H, Hedrich UB, Elsen G, Hörtnagel K, Aizenman E, Lemke JR, Hakonarson H, Traynelis SF, Falk MJ. GRIN2D Recurrent De Novo Dominant Mutation Causes a Severe Epileptic Encephalopathy Treatable with NMDA Receptor Channel Blockers. Am J Hum Genet 2016;99:802-16. [PMID: 27616483 DOI: 10.1016/j.ajhg.2016.07.013] [Cited by in Crossref: 96] [Cited by in F6Publishing: 97] [Article Influence: 16.0] [Reference Citation Analysis]
152 Amr SS, Murphy E, Duffy E, Niazi R, Balciuniene J, Luo M, Rehm HL, Abou Tayoun AN. Allele-Specific Droplet Digital PCR Combined with a Next-Generation Sequencing-Based Algorithm for Diagnostic Copy Number Analysis in Genes with High Homology: Proof of Concept Using Stereocilin. Clin Chem 2018;64:705-14. [PMID: 29339441 DOI: 10.1373/clinchem.2017.280685] [Cited by in Crossref: 11] [Cited by in F6Publishing: 6] [Article Influence: 2.8] [Reference Citation Analysis]
153 Skogseid IM, Røsby O, Konglund A, Connelly JP, Nedregaard B, Jablonski GE, Kvernmo N, Stray-Pedersen A, Glover JC. Dystonia-deafness syndrome caused by ACTB p.Arg183Trp heterozygosity shows striatal dopaminergic dysfunction and response to pallidal stimulation. J Neurodev Disord 2018;10:17. [PMID: 29788902 DOI: 10.1186/s11689-018-9235-z] [Cited by in Crossref: 11] [Cited by in F6Publishing: 8] [Article Influence: 2.8] [Reference Citation Analysis]
154 Konishi KI, Mizuochi T, Honma H, Etani Y, Morikawa K, Wada K, Yamamoto K. A novel de novo SLC26A3 mutation causing congenital chloride diarrhea in a Japanese neonate. Mol Genet Genomic Med 2020;8:e1505. [PMID: 32951339 DOI: 10.1002/mgg3.1505] [Cited by in F6Publishing: 1] [Reference Citation Analysis]
155 Chen L, Jensik PJ, Alaimo JT, Walkiewicz M, Berger S, Roeder E, Faqeih EA, Bernstein JA, Smith ACM, Mullegama SV, Saffen DW, Elsea SH. Functional analysis of novel DEAF1 variants identified through clinical exome sequencing expands DEAF1-associated neurodevelopmental disorder (DAND) phenotype. Hum Mutat 2017;38:1774-85. [PMID: 28940898 DOI: 10.1002/humu.23339] [Cited by in Crossref: 14] [Cited by in F6Publishing: 13] [Article Influence: 2.8] [Reference Citation Analysis]
156 Fenoglio C, Scarpini E, Serpente M, Galimberti D. Role of Genetics and Epigenetics in the Pathogenesis of Alzheimer's Disease and Frontotemporal Dementia. J Alzheimers Dis 2018;62:913-32. [PMID: 29562532 DOI: 10.3233/JAD-170702] [Cited by in Crossref: 24] [Cited by in F6Publishing: 12] [Article Influence: 8.0] [Reference Citation Analysis]
157 Matthews AM, Tarailo-Graovac M, Price EM, Blydt-Hansen I, Ghani A, Drögemöller BI, Robinson WP, Ross CJ, Wasserman WW, Siden H, van Karnebeek CD. A de novo mosaic mutation in SPAST with two novel alternative alleles and chromosomal copy number variant in a boy with spastic paraplegia and autism spectrum disorder. Eur J Med Genet 2017;60:548-52. [PMID: 28778789 DOI: 10.1016/j.ejmg.2017.07.015] [Cited by in Crossref: 8] [Cited by in F6Publishing: 8] [Article Influence: 1.6] [Reference Citation Analysis]
158 Landstrom AP, Dailey-Schwartz AL, Rosenfeld JA, Yang Y, McLean MJ, Miyake CY, Valdes SO, Fan Y, Allen HD, Penny DJ, Kim JJ. Interpreting Incidentally Identified Variants in Genes Associated With Catecholaminergic Polymorphic Ventricular Tachycardia in a Large Cohort of Clinical Whole-Exome Genetic Test Referrals. Circ Arrhythm Electrophysiol 2017;10:e004742. [PMID: 28404607 DOI: 10.1161/CIRCEP.116.004742] [Cited by in Crossref: 21] [Cited by in F6Publishing: 14] [Article Influence: 4.2] [Reference Citation Analysis]
159 Sobreira N, Schiettecatte F, Valle D, Hamosh A. GeneMatcher: a matching tool for connecting investigators with an interest in the same gene. Hum Mutat 2015;36:928-30. [PMID: 26220891 DOI: 10.1002/humu.22844] [Cited by in Crossref: 666] [Cited by in F6Publishing: 595] [Article Influence: 95.1] [Reference Citation Analysis]
160 Murdock DR. Enhancing Diagnosis Through RNA Sequencing. Clin Lab Med 2020;40:113-9. [PMID: 32439063 DOI: 10.1016/j.cll.2020.02.001] [Cited by in Crossref: 1] [Cited by in F6Publishing: 2] [Article Influence: 1.0] [Reference Citation Analysis]
161 Oud MM, Lamers IJ, Arts HH. Ciliopathies: Genetics in Pediatric Medicine. J Pediatr Genet 2017;6:18-29. [PMID: 28180024 DOI: 10.1055/s-0036-1593841] [Cited by in Crossref: 23] [Cited by in F6Publishing: 22] [Article Influence: 3.8] [Reference Citation Analysis]
162 Chitty LS, Friedman JM, Langlois S. Current controversies in prenatal diagnosis 2: should a fetal exome be used in the assessment of a dysmorphic or malformed fetus? Prenat Diagn 2016;36:15-9. [PMID: 26525746 DOI: 10.1002/pd.4718] [Cited by in Crossref: 13] [Cited by in F6Publishing: 8] [Article Influence: 1.9] [Reference Citation Analysis]
163 Gripp KW, Baker L, Telegrafi A, Monaghan KG. The role of objective facial analysis using FDNA in making diagnoses following whole exome analysis. Report of two patients with mutations in the BAF complex genes. Am J Med Genet 2016;170:1754-62. [DOI: 10.1002/ajmg.a.37672] [Cited by in Crossref: 27] [Cited by in F6Publishing: 25] [Article Influence: 4.5] [Reference Citation Analysis]
164 Kamalapathy P, Fonda Allen JS, Macri CJ, Lawrence AK, Regier DS, Rubio EI. Whole-exome sequencing for diagnosis of Peters-plus syndrome after prenatal diagnosis of recurrent low PAPP-A and multiple fetal anomalies in two consecutive pregnancies. J Neonatal Perinatal Med 2019. [PMID: 31081795 DOI: 10.3233/NPM-181854] [Reference Citation Analysis]
165 Al-Shamsi A, Hertecant JL, Souid AK, Al-Jasmi FA. Whole exome sequencing diagnosis of inborn errors of metabolism and other disorders in United Arab Emirates. Orphanet J Rare Dis 2016;11:94. [PMID: 27391121 DOI: 10.1186/s13023-016-0474-3] [Cited by in Crossref: 27] [Cited by in F6Publishing: 23] [Article Influence: 4.5] [Reference Citation Analysis]
166 Bekheirnia MR, Bekheirnia N, Bainbridge MN, Gu S, Coban Akdemir ZH, Gambin T, Janzen NK, Jhangiani SN, Muzny DM, Michael M, Brewer ED, Elenberg E, Kale AS, Riley AA, Swartz SJ, Scott DA, Yang Y, Srivaths PR, Wenderfer SE, Bodurtha J, Applegate CD, Velinov M, Myers A, Borovik L, Craigen WJ, Hanchard NA, Rosenfeld JA, Lewis RA, Gonzales ET, Gibbs RA, Belmont JW, Roth DR, Eng C, Braun MC, Lupski JR, Lamb DJ. Whole-exome sequencing in the molecular diagnosis of individuals with congenital anomalies of the kidney and urinary tract and identification of a new causative gene. Genet Med 2017;19:412-20. [PMID: 27657687 DOI: 10.1038/gim.2016.131] [Cited by in Crossref: 49] [Cited by in F6Publishing: 40] [Article Influence: 8.2] [Reference Citation Analysis]
167 Willig LK, Petrikin JE, Smith LD, Saunders CJ, Thiffault I, Miller NA, Soden SE, Cakici JA, Herd SM, Twist G, Noll A, Creed M, Alba PM, Carpenter SL, Clements MA, Fischer RT, Hays JA, Kilbride H, McDonough RJ, Rosterman JL, Tsai SL, Zellmer L, Farrow EG, Kingsmore SF. Whole-genome sequencing for identification of Mendelian disorders in critically ill infants: a retrospective analysis of diagnostic and clinical findings. Lancet Respir Med 2015;3:377-87. [PMID: 25937001 DOI: 10.1016/S2213-2600(15)00139-3] [Cited by in Crossref: 196] [Cited by in F6Publishing: 102] [Article Influence: 28.0] [Reference Citation Analysis]
168 Adam S, Friedman JM. Controversy and debate on clinical genomics sequencing-paper 4: clinical genome-wide sequencing: response to Wilson, Miller, and Rousseau. J Clin Epidemiol 2017;92:13-5. [PMID: 28951108 DOI: 10.1016/j.jclinepi.2017.09.019] [Reference Citation Analysis]
169 Mastrogiorgio G, Macchiaiolo M, Buonuomo PS, Bellacchio E, Bordi M, Vecchio D, Brown KP, Watson NK, Contardi B, Cecconi F, Tartaglia M, Bartuli A. Clinical and molecular characterization of patients with adenylosuccinate lyase deficiency. Orphanet J Rare Dis 2021;16:112. [PMID: 33648541 DOI: 10.1186/s13023-021-01731-6] [Reference Citation Analysis]
170 Ganapathy A, Mishra A, Soni MR, Kumar P, Sadagopan M, Kanthi AV, Patric IRP, George S, Sridharan A, Thyagarajan TC, Aswathy SL, Vidya HK, Chinnappa SM, Nayanala S, Prakash MB, Raghavendrachar VG, Parulekar M, Gowda VK, Nampoothiri S, Menon RN, Pachat D, Udani V, Naik N, Kamate M, Devi ARR, Mohammed Kunju PA, Nair M, Hegde AU, Kumar MP, Sundaram S, Tilak P, Puri RD, Shah K, Sheth J, Hasan Q, Sheth F, Agrawal P, Katragadda S, Veeramachaneni V, Chandru V, Hariharan R, Mannan AU. Multi-gene testing in neurological disorders showed an improved diagnostic yield: data from over 1000 Indian patients. J Neurol 2019;266:1919-26. [PMID: 31069529 DOI: 10.1007/s00415-019-09358-1] [Cited by in Crossref: 9] [Cited by in F6Publishing: 7] [Article Influence: 3.0] [Reference Citation Analysis]
171 Shademan B, Biray Avci C, Nikanfar M, Nourazarian A. Application of Next-Generation Sequencing in Neurodegenerative Diseases: Opportunities and Challenges. Neuromolecular Med 2021;23:225-35. [PMID: 32399804 DOI: 10.1007/s12017-020-08601-7] [Reference Citation Analysis]
172 Guo L, Milburn MV, Ryals JA, Lonergan SC, Mitchell MW, Wulff JE, Alexander DC, Evans AM, Bridgewater B, Miller L. Plasma metabolomic profiles enhance precision medicine for volunteers of normal health. Proc Natl Acad Sci USA. 2015;112:E4901-E4910. [PMID: 26283345 DOI: 10.1073/pnas.1508425112] [Cited by in Crossref: 104] [Cited by in F6Publishing: 92] [Article Influence: 14.9] [Reference Citation Analysis]
173 Lindy AS, Stosser MB, Butler E, Downtain‐pickersgill C, Shanmugham A, Retterer K, Brandt T, Richard G, Mcknight DA. Diagnostic outcomes for genetic testing of 70 genes in 8565 patients with epilepsy and neurodevelopmental disorders. Epilepsia 2018;59:1062-71. [DOI: 10.1111/epi.14074] [Cited by in Crossref: 97] [Cited by in F6Publishing: 82] [Article Influence: 24.3] [Reference Citation Analysis]
174 Cohn I, Paton TA, Marshall CR, Basran R, Stavropoulos DJ, Ray PN, Monfared N, Hayeems RZ, Meyn MS, Bowdin S, Scherer SW, Cohn RD, Ito S. Genome sequencing as a platform for pharmacogenetic genotyping: a pediatric cohort study. NPJ Genom Med 2017;2:19. [PMID: 29263831 DOI: 10.1038/s41525-017-0021-8] [Cited by in Crossref: 20] [Cited by in F6Publishing: 16] [Article Influence: 4.0] [Reference Citation Analysis]
175 Lei L, Zhou L, Xiong JJ. Whole-exome sequencing increases the diagnostic rate for prenatal fetal structural anomalies. Eur J Med Genet 2021;64:104288. [PMID: 34246755 DOI: 10.1016/j.ejmg.2021.104288] [Reference Citation Analysis]
176 Muthaffar OY. The Utility of Whole Exome Sequencing in Diagnosing Pediatric Neurological Disorders. Balkan J Med Genet 2020;23:17-24. [PMID: 33816068 DOI: 10.2478/bjmg-2020-0028] [Reference Citation Analysis]
177 Verberne EA, Westermann JM, de Vries TI, Ecury-Goossen GM, Lo-A-Njoe SM, Manshande ME, Faries S, Veenhuis HD, Philippi P, Falix FA, Rosina-Angelista I, Ponson-Wever M, Rafael-Croes L, Thorsen P, Arends E, de Vroomen M, Nagelkerke SQ, Tilanus M, van der Veken LT, Huijsdens-van Amsterdam K, van der Kevie-Kersemaekers AM, Alders M, Mannens MMAM, van Haelst MM. Genetic care in geographically isolated small island communities: 8 years of experience in the Dutch Caribbean. Am J Med Genet A 2022. [PMID: 35253369 DOI: 10.1002/ajmg.a.62708] [Reference Citation Analysis]
178 Peng Y, Shinde DN, Valencia CA, Mo JS, Rosenfeld J, Truitt Cho M, Chamberlin A, Li Z, Liu J, Gui B, Brockhage R, Basinger A, Alvarez-Leon B, Heydemann P, Magoulas PL, Lewis AM, Scaglia F, Gril S, Chong SC, Bower M, Monaghan KG, Willaert R, Plona MR, Dineen R, Milan F, Hoganson G, Powis Z, Helbig KL, Keller-Ramey J, Harris B, Anderson LC, Green T, Sukoff Rizzo SJ, Kaylor J, Chen J, Guan MX, Sellars E, Sparagana SP, Gibson JB, Reinholdt LG, Tang S, Huang T. Biallelic mutations in the ferredoxin reductase gene cause novel mitochondriopathy with optic atrophy. Hum Mol Genet 2017;26:4937-50. [PMID: 29040572 DOI: 10.1093/hmg/ddx377] [Cited by in Crossref: 15] [Cited by in F6Publishing: 13] [Article Influence: 3.8] [Reference Citation Analysis]
179 Pagnamenta AT, Diaz-Gonzalez F, Banos-Pinero B, Ferla MP, Toosi MB, Calder AD, Karimiani EG, Doosti M, Wainwright A, Wordsworth P, Bailey K, Ejeskär K, Lester T, Maroofian R, Heath KE, Tajsharghi H, Shears D, Taylor JC; Genomics England Research Consortium. Variable skeletal phenotypes associated with biallelic variants in PRKG2. J Med Genet 2021:jmedgenet-2021-108027. [PMID: 34782440 DOI: 10.1136/jmedgenet-2021-108027] [Reference Citation Analysis]
180 Raymond VM, Gray SW, Roychowdhury S, Joffe S, Chinnaiyan AM, Parsons DW, Plon SE; Clinical Sequencing Exploratory Research Consortium Tumor Working Group. Germline Findings in Tumor-Only Sequencing: Points to Consider for Clinicians and Laboratories. J Natl Cancer Inst 2016;108:djv351. [PMID: 26590952 DOI: 10.1093/jnci/djv351] [Cited by in Crossref: 58] [Cited by in F6Publishing: 46] [Article Influence: 8.3] [Reference Citation Analysis]
181 Satoh C, Maekawa R, Kinoshita A, Mishima H, Doi M, Miyazaki M, Fukuda M, Takahashi H, Kondoh T, Yoshiura KI. Three brothers with a nonsense mutation in KAT6A caused by parental germline mosaicism. Hum Genome Var 2017;4:17045. [PMID: 31754438 DOI: 10.1038/hgv.2017.45] [Cited by in Crossref: 6] [Cited by in F6Publishing: 4] [Article Influence: 1.2] [Reference Citation Analysis]
182 McLaughlin HM, Ceyhan-Birsoy O, Christensen KD, Kohane IS, Krier J, Lane WJ, Lautenbach D, Lebo MS, Machini K, MacRae CA, Azzariti DR, Murray MF, Seidman CE, Vassy JL, Green RC, Rehm HL; MedSeq Project. A systematic approach to the reporting of medically relevant findings from whole genome sequencing. BMC Med Genet 2014;15:134. [PMID: 25714468 DOI: 10.1186/s12881-014-0134-1] [Cited by in Crossref: 63] [Cited by in F6Publishing: 57] [Article Influence: 7.9] [Reference Citation Analysis]
183 Manolio TA, Fowler DM, Starita LM, Haendel MA, MacArthur DG, Biesecker LG, Worthey E, Chisholm RL, Green ED, Jacob HJ, McLeod HL, Roden D, Rodriguez LL, Williams MS, Cooper GM, Cox NJ, Herman GE, Kingsmore S, Lo C, Lutz C, MacRae CA, Nussbaum RL, Ordovas JM, Ramos EM, Robinson PN, Rubinstein WS, Seidman C, Stranger BE, Wang H, Westerfield M, Bult C. Bedside Back to Bench: Building Bridges between Basic and Clinical Genomic Research. Cell 2017;169:6-12. [PMID: 28340351 DOI: 10.1016/j.cell.2017.03.005] [Cited by in Crossref: 80] [Cited by in F6Publishing: 61] [Article Influence: 16.0] [Reference Citation Analysis]
184 Vissers LELM, van Nimwegen KJM, Schieving JH, Kamsteeg EJ, Kleefstra T, Yntema HG, Pfundt R, van der Wilt GJ, Krabbenborg L, Brunner HG, van der Burg S, Grutters J, Veltman JA, Willemsen MAAP. A clinical utility study of exome sequencing versus conventional genetic testing in pediatric neurology. Genet Med 2017;19:1055-63. [PMID: 28333917 DOI: 10.1038/gim.2017.1] [Cited by in Crossref: 120] [Cited by in F6Publishing: 97] [Article Influence: 24.0] [Reference Citation Analysis]
185 Dillon OJ, Lunke S, Stark Z, Yeung A, Thorne N, Gaff C, White SM, Tan TY; Melbourne Genomics Health Alliance. Exome sequencing has higher diagnostic yield compared to simulated disease-specific panels in children with suspected monogenic disorders. Eur J Hum Genet 2018;26:644-51. [PMID: 29453417 DOI: 10.1038/s41431-018-0099-1] [Cited by in Crossref: 50] [Cited by in F6Publishing: 44] [Article Influence: 12.5] [Reference Citation Analysis]
186 Aggarwal S, Vineeth VS, Das Bhowmik A, Tandon A, Kulkarni A, Narayanan DL, Bhattacherjee A, Dalal A. Exome sequencing for perinatal phenotypes: The significance of deep phenotyping. Prenat Diagn 2020;40:260-73. [PMID: 31742715 DOI: 10.1002/pd.5616] [Cited by in Crossref: 4] [Cited by in F6Publishing: 3] [Article Influence: 1.3] [Reference Citation Analysis]
187 Weyhrauch DL, Ye D, Boczek NJ, Tester DJ, Gavrilova RH, Patterson MC, Wieben ED, Ackerman MJ. Whole Exome Sequencing and Heterologous Cellular Electrophysiology Studies Elucidate a Novel Loss-of-Function Mutation in the CACNA1A-Encoded Neuronal P/Q-Type Calcium Channel in a Child With Congenital Hypotonia and Developmental Delay. Pediatric Neurology 2016;55:46-51. [DOI: 10.1016/j.pediatrneurol.2015.10.014] [Cited by in Crossref: 15] [Cited by in F6Publishing: 15] [Article Influence: 2.5] [Reference Citation Analysis]
188 Santotoribio JD, Lepe-Balsalobre E, Alonso-Pérez I, Campo-Barasoain A, Macher HC. Neuronal ceroid lipofuscinosis and Bardet-Biedl syndrome in patient with retinitis pigmentosa. An Pediatr (Engl Ed) 2021;95:116-8. [PMID: 34275779 DOI: 10.1016/j.anpede.2020.05.017] [Reference Citation Analysis]
189 Aicher JK, Jewell P, Vaquero-Garcia J, Barash Y, Bhoj EJ. Mapping RNA splicing variations in clinically accessible and nonaccessible tissues to facilitate Mendelian disease diagnosis using RNA-seq. Genet Med 2020;22:1181-90. [PMID: 32225167 DOI: 10.1038/s41436-020-0780-y] [Cited by in Crossref: 15] [Cited by in F6Publishing: 12] [Article Influence: 7.5] [Reference Citation Analysis]
190 Haendel MA, Chute CG, Robinson PN. Classification, Ontology, and Precision Medicine. N Engl J Med 2018;379:1452-62. [PMID: 30304648 DOI: 10.1056/NEJMra1615014] [Cited by in Crossref: 113] [Cited by in F6Publishing: 51] [Article Influence: 28.3] [Reference Citation Analysis]
191 Vassy JL, Christensen KD, Schonman EF, Blout CL, Robinson JO, Krier JB, Diamond PM, Lebo M, Machini K, Azzariti DR, Dukhovny D, Bates DW, MacRae CA, Murray MF, Rehm HL, McGuire AL, Green RC; MedSeq Project. The Impact of Whole-Genome Sequencing on the Primary Care and Outcomes of Healthy Adult Patients: A Pilot Randomized Trial. Ann Intern Med 2017;167:159-69. [PMID: 28654958 DOI: 10.7326/M17-0188] [Cited by in Crossref: 99] [Cited by in F6Publishing: 55] [Article Influence: 19.8] [Reference Citation Analysis]
192 Costain G, Shugar A, Krishnan P, Mahmutoglu S, Laughlin S, Kannu P. Homozygous mutation in PRUNE1 in an Oji-Cree male with a complex neurological phenotype. Am J Med Genet A 2017;173:740-3. [PMID: 28211990 DOI: 10.1002/ajmg.a.38066] [Cited by in Crossref: 13] [Cited by in F6Publishing: 13] [Article Influence: 2.6] [Reference Citation Analysis]
193 Theunissen TEJ, Sallevelt SCEH, Hellebrekers DMEI, de Koning B, Hendrickx ATM, van den Bosch BJC, Kamps R, Schoonderwoerd K, Szklarczyk R, Mulder-Den Hartog ENM, de Coo IFM, Smeets HJM. Rapid Resolution of Blended or Composite Multigenic Disease in Infants by Whole-Exome Sequencing. J Pediatr 2017;182:371-374.e2. [PMID: 28081892 DOI: 10.1016/j.jpeds.2016.12.032] [Cited by in Crossref: 9] [Cited by in F6Publishing: 7] [Article Influence: 1.8] [Reference Citation Analysis]
194 Danis D, Jacobsen JOB, Carmody LC, Gargano MA, McMurry JA, Hegde A, Haendel MA, Valentini G, Smedley D, Robinson PN. Interpretable prioritization of splice variants in diagnostic next-generation sequencing. Am J Hum Genet 2021;108:1564-77. [PMID: 34289339 DOI: 10.1016/j.ajhg.2021.06.014] [Reference Citation Analysis]
195 Stals KL, Wakeling M, Baptista J, Caswell R, Parrish A, Rankin J, Tysoe C, Jones G, Gunning AC, Lango Allen H, Bradley L, Brady AF, Carley H, Carmichael J, Castle B, Cilliers D, Cox H, Deshpande C, Dixit A, Eason J, Elmslie F, Fry AE, Fryer A, Holder M, Homfray T, Kivuva E, McKay V, Newbury-Ecob R, Parker M, Savarirayan R, Searle C, Shannon N, Shears D, Smithson S, Thomas E, Turnpenny PD, Varghese V, Vasudevan P, Wakeling E, Baple EL, Ellard S. Diagnosis of lethal or prenatal-onset autosomal recessive disorders by parental exome sequencing. Prenat Diagn 2018;38:33-43. [PMID: 29096039 DOI: 10.1002/pd.5175] [Cited by in Crossref: 40] [Cited by in F6Publishing: 31] [Article Influence: 8.0] [Reference Citation Analysis]
196 Fang Q, George AS, Brinkmeier ML, Mortensen AH, Gergics P, Cheung LY, Daly AZ, Ajmal A, Pérez Millán MI, Ozel AB, Kitzman JO, Mills RE, Li JZ, Camper SA. Genetics of Combined Pituitary Hormone Deficiency: Roadmap into the Genome Era. Endocr Rev 2016;37:636-75. [PMID: 27828722 DOI: 10.1210/er.2016-1101] [Cited by in Crossref: 85] [Cited by in F6Publishing: 69] [Article Influence: 14.2] [Reference Citation Analysis]
197 Chérot E, Keren B, Dubourg C, Carré W, Fradin M, Lavillaureix A, Afenjar A, Burglen L, Whalen S, Charles P, Marey I, Heide S, Jacquette A, Heron D, Doummar D, Rodriguez D, Billette de Villemeur T, Moutard M, Guët A, Xavier J, Périsse D, Cohen D, Demurger F, Quélin C, Depienne C, Odent S, Nava C, David V, Pasquier L, Mignot C. Using medical exome sequencing to identify the causes of neurodevelopmental disorders: Experience of 2 clinical units and 216 patients: CHÉROT et al . Clin Genet 2018;93:567-76. [DOI: 10.1111/cge.13102] [Cited by in Crossref: 45] [Cited by in F6Publishing: 44] [Article Influence: 9.0] [Reference Citation Analysis]
198 De La Vega FM, Chowdhury S, Moore B, Frise E, McCarthy J, Hernandez EJ, Wong T, James K, Guidugli L, Agrawal PB, Genetti CA, Brownstein CA, Beggs AH, Löscher BS, Franke A, Boone B, Levy SE, Õunap K, Pajusalu S, Huentelman M, Ramsey K, Naymik M, Narayanan V, Veeraraghavan N, Billings P, Reese MG, Yandell M, Kingsmore SF. Artificial intelligence enables comprehensive genome interpretation and nomination of candidate diagnoses for rare genetic diseases. Genome Med 2021;13:153. [PMID: 34645491 DOI: 10.1186/s13073-021-00965-0] [Reference Citation Analysis]
199 Conboy E, Vairo F, Waggoner D, Ober C, Das S, Dhamija R, Klee EW, Pichurin P. Pathogenic Variant in ACTB, p.Arg183Trp, Causes Juvenile-Onset Dystonia, Hearing Loss, and Developmental Delay without Midline Malformation. Case Rep Genet 2017;2017:9184265. [PMID: 28487785 DOI: 10.1155/2017/9184265] [Cited by in Crossref: 2] [Cited by in F6Publishing: 5] [Article Influence: 0.4] [Reference Citation Analysis]
200 Zastrow DB, Kohler JN, Bonner D, Reuter CM, Fernandez L, Grove ME, Fisk DG, Yang Y, Eng CM, Ward PA, Bick D, Worthey EA, Fisher PG, Ashley EA, Bernstein JA, Wheeler MT; Undiagnosed Diseases Network. A toolkit for genetics providers in follow-up of patients with non-diagnostic exome sequencing. J Genet Couns 2019;28:213-28. [PMID: 30964584 DOI: 10.1002/jgc4.1119] [Cited by in Crossref: 2] [Cited by in F6Publishing: 2] [Article Influence: 1.0] [Reference Citation Analysis]
201 Headrick AT, Rosenfeld JA, Yang Y, Tunuguntla H, Allen HD, Penny DJ, Kim JJ, Landstrom AP. Incidentally identified genetic variants in arrhythmogenic right ventricular cardiomyopathy-associated genes among children undergoing exome sequencing reflect healthy population variation. Mol Genet Genomic Med 2019;7:e593. [PMID: 30985088 DOI: 10.1002/mgg3.593] [Cited by in Crossref: 3] [Cited by in F6Publishing: 3] [Article Influence: 1.0] [Reference Citation Analysis]
202 Lee B, Tran B, Hsu AL, Taylor GR, Fox SB, Fellowes A, Marquis R, Mooi J, Desai J, Doig K, Ekert P, Gaff C, Herath D, Hamilton A, James P, Roberts A, Snyder R, Waring P, McArthur G. Exploring the feasibility and utility of exome-scale tumour sequencing in a clinical setting. Intern Med J 2018;48:786-94. [PMID: 29607586 DOI: 10.1111/imj.13806] [Cited by in Crossref: 5] [Cited by in F6Publishing: 3] [Article Influence: 1.3] [Reference Citation Analysis]
203 Nestor JG, Groopman EE, Gharavi AG. Towards precision nephrology: the opportunities and challenges of genomic medicine. J Nephrol 2018;31:47-60. [PMID: 29043570 DOI: 10.1007/s40620-017-0448-0] [Cited by in Crossref: 9] [Cited by in F6Publishing: 6] [Article Influence: 1.8] [Reference Citation Analysis]
204 Retterer K, Juusola J, Cho MT, Vitazka P, Millan F, Gibellini F, Vertino-bell A, Smaoui N, Neidich J, Monaghan KG, Mcknight D, Bai R, Suchy S, Friedman B, Tahiliani J, Pineda-alvarez D, Richard G, Brandt T, Haverfield E, Chung WK, Bale S. Clinical application of whole-exome sequencing across clinical indications. Genet Med 2016;18:696-704. [DOI: 10.1038/gim.2015.148] [Cited by in Crossref: 470] [Cited by in F6Publishing: 418] [Article Influence: 67.1] [Reference Citation Analysis]
205 Watanabe S, Ilieva H, Tamada H, Nomura H, Komine O, Endo F, Jin S, Mancias P, Kiyama H, Yamanaka K. Mitochondria-associated membrane collapse is a common pathomechanism in SIGMAR1- and SOD1-linked ALS. EMBO Mol Med 2016;8:1421-37. [PMID: 27821430 DOI: 10.15252/emmm.201606403] [Cited by in Crossref: 113] [Cited by in F6Publishing: 113] [Article Influence: 18.8] [Reference Citation Analysis]
206 Lye JJ, Williams A, Baralle D. Exploring the RNA Gap for Improving Diagnostic Yield in Primary Immunodeficiencies. Front Genet 2019;10:1204. [PMID: 31921280 DOI: 10.3389/fgene.2019.01204] [Cited by in Crossref: 2] [Cited by in F6Publishing: 2] [Article Influence: 0.7] [Reference Citation Analysis]
207 Green RC, Goddard KAB, Jarvik GP, Amendola LM, Appelbaum PS, Berg JS, Bernhardt BA, Biesecker LG, Biswas S, Blout CL, Bowling KM, Brothers KB, Burke W, Caga-Anan CF, Chinnaiyan AM, Chung WK, Clayton EW, Cooper GM, East K, Evans JP, Fullerton SM, Garraway LA, Garrett JR, Gray SW, Henderson GE, Hindorff LA, Holm IA, Lewis MH, Hutter CM, Janne PA, Joffe S, Kaufman D, Knoppers BM, Koenig BA, Krantz ID, Manolio TA, McCullough L, McEwen J, McGuire A, Muzny D, Myers RM, Nickerson DA, Ou J, Parsons DW, Petersen GM, Plon SE, Rehm HL, Roberts JS, Robinson D, Salama JS, Scollon S, Sharp RR, Shirts B, Spinner NB, Tabor HK, Tarczy-Hornoch P, Veenstra DL, Wagle N, Weck K, Wilfond BS, Wilhelmsen K, Wolf SM, Wynn J, Yu JH; CSER Consortium. Clinical Sequencing Exploratory Research Consortium: Accelerating Evidence-Based Practice of Genomic Medicine. Am J Hum Genet 2016;98:1051-66. [PMID: 27181682 DOI: 10.1016/j.ajhg.2016.04.011] [Cited by in Crossref: 96] [Cited by in F6Publishing: 89] [Article Influence: 16.0] [Reference Citation Analysis]
208 Dewey FE, Grove ME, Priest JR, Waggott D, Batra P, Miller CL, Wheeler M, Zia A, Pan C, Karzcewski KJ, Miyake C, Whirl-Carrillo M, Klein TE, Datta S, Altman RB, Snyder M, Quertermous T, Ashley EA. Sequence to Medical Phenotypes: A Framework for Interpretation of Human Whole Genome DNA Sequence Data. PLoS Genet 2015;11:e1005496. [PMID: 26448358 DOI: 10.1371/journal.pgen.1005496] [Cited by in Crossref: 22] [Cited by in F6Publishing: 18] [Article Influence: 3.1] [Reference Citation Analysis]
209 Tyagi S, Ribera AB, Bannister RA. Zebrafish as a Model System for the Study of Severe CaV2.1 (α1A) Channelopathies. Front Mol Neurosci 2019;12:329. [PMID: 32116539 DOI: 10.3389/fnmol.2019.00329] [Cited by in Crossref: 5] [Cited by in F6Publishing: 5] [Article Influence: 2.5] [Reference Citation Analysis]
210 Herman I, Jolly A, Du H, Dawood M, Abdel-Salam GMH, Marafi D, Mitani T, Calame DG, Coban-Akdemir Z, Fatih JM, Hegazy I, Jhangiani SN, Gibbs RA, Pehlivan D, Posey JE, Lupski JR. Quantitative dissection of multilocus pathogenic variation in an Egyptian infant with severe neurodevelopmental disorder resulting from multiple molecular diagnoses. Am J Med Genet A 2021. [PMID: 34816580 DOI: 10.1002/ajmg.a.62565] [Reference Citation Analysis]
211 Gambin T, Jhangiani SN, Below JE, Campbell IM, Wiszniewski W, Muzny DM, Staples J, Morrison AC, Bainbridge MN, Penney S, McGuire AL, Gibbs RA, Lupski JR, Boerwinkle E. Secondary findings and carrier test frequencies in a large multiethnic sample. Genome Med 2015;7:54. [PMID: 26195989 DOI: 10.1186/s13073-015-0171-1] [Cited by in Crossref: 43] [Cited by in F6Publishing: 35] [Article Influence: 6.1] [Reference Citation Analysis]
212 Ahrens-Nicklas RC, Ganetzky RD, Rush PW, Conway RL, Ficicioglu C. Characteristics and outcomes of patients with formiminoglutamic aciduria detected through newborn screening. J Inherit Metab Dis 2019;42:140-6. [PMID: 30740726 DOI: 10.1002/jimd.12035] [Cited by in Crossref: 4] [Cited by in F6Publishing: 2] [Article Influence: 2.0] [Reference Citation Analysis]
213 Li C, Beauregard-Lacroix E, Kondratev C, Rousseau J, Heo AJ, Neas K, Graham BH, Rosenfeld JA, Bacino CA, Wagner M, Wenzel M, Al Mutairi F, Al Deiab H, Gleeson JG, Stanley V, Zaki MS, Kwon YT, Leroux MR, Campeau PM. UBR7 functions with UBR5 in the Notch signaling pathway and is involved in a neurodevelopmental syndrome with epilepsy, ptosis, and hypothyroidism. Am J Hum Genet 2021;108:134-47. [PMID: 33340455 DOI: 10.1016/j.ajhg.2020.11.018] [Cited by in Crossref: 2] [Article Influence: 1.0] [Reference Citation Analysis]
214 Bylstra Y, Davila S, Lim WK, Wu R, Teo JX, Kam S, Lysaght T, Rozen S, Teh BT, Yeo KK, Cook SA, Tan P, Jamuar SS. Implementation of genomics in medical practice to deliver precision medicine for an Asian population. NPJ Genom Med 2019;4:12. [PMID: 31231544 DOI: 10.1038/s41525-019-0085-8] [Cited by in Crossref: 10] [Cited by in F6Publishing: 6] [Article Influence: 3.3] [Reference Citation Analysis]
215 Rowlands C, Thomas HB, Lord J, Wai HA, Arno G, Beaman G, Sergouniotis P, Gomes-Silva B, Campbell C, Gossan N, Hardcastle C, Webb K, O'Callaghan C, Hirst RA, Ramsden S, Jones E, Clayton-Smith J, Webster AR, Douglas AGL, O'Keefe RT, Newman WG, Baralle D, Black GCM, Ellingford JM; Genomics England Research Consortium. Comparison of in silico strategies to prioritize rare genomic variants impacting RNA splicing for the diagnosis of genomic disorders. Sci Rep 2021;11:20607. [PMID: 34663891 DOI: 10.1038/s41598-021-99747-2] [Cited by in Crossref: 1] [Article Influence: 1.0] [Reference Citation Analysis]
216 Lin H, Hu N, Zhang Y, Wang Y, Macdonald RL. Whole exome sequencing reveals novel NOV and DCAF13 variants in a Chinese pedigree with familial cortical myoclonic tremor with epilepsy. Neurosci Lett 2018;684:115-20. [PMID: 30003937 DOI: 10.1016/j.neulet.2018.07.014] [Cited by in Crossref: 1] [Article Influence: 0.3] [Reference Citation Analysis]
217 Boyle L, Wamelink MMC, Salomons GS, Roos B, Pop A, Dauber A, Hwa V, Andrew M, Douglas J, Feingold M, Kramer N, Saitta S, Retterer K, Cho MT, Begtrup A, Monaghan KG, Wynn J, Chung WK. Mutations in TKT Are the Cause of a Syndrome Including Short Stature, Developmental Delay, and Congenital Heart Defects. Am J Hum Genet 2016;98:1235-42. [PMID: 27259054 DOI: 10.1016/j.ajhg.2016.03.030] [Cited by in Crossref: 19] [Cited by in F6Publishing: 18] [Article Influence: 3.8] [Reference Citation Analysis]
218 Narayanan S, Blumberg B, Clayman ML, Pan V, Wicklund C. Exploring the Issues Surrounding Clinical Exome Sequencing in the Prenatal Setting. J Genet Counsel 2018;27:1228-37. [DOI: 10.1007/s10897-018-0245-5] [Cited by in Crossref: 11] [Cited by in F6Publishing: 9] [Article Influence: 2.8] [Reference Citation Analysis]
219 Dougherty JD, Yang C, Lake AM. Systems biology in the central nervous system: a brief perspective on essential recent advancements. Curr Opin Syst Biol 2017;3:67-76. [PMID: 29057378 DOI: 10.1016/j.coisb.2017.04.011] [Cited by in Crossref: 4] [Cited by in F6Publishing: 4] [Article Influence: 0.8] [Reference Citation Analysis]
220 Wenger AM, Guturu H, Bernstein JA, Bejerano G. Systematic reanalysis of clinical exome data yields additional diagnoses: implications for providers. Genet Med 2017;19:209-14. [DOI: 10.1038/gim.2016.88] [Cited by in Crossref: 149] [Cited by in F6Publishing: 128] [Article Influence: 24.8] [Reference Citation Analysis]
221 Hart MR, Biesecker BB, Blout CL, Christensen KD, Amendola LM, Bergstrom KL, Biswas S, Bowling KM, Brothers KB, Conlin LK, Cooper GM, Dulik MC, East KM, Everett JN, Finnila CR, Ghazani AA, Gilmore MJ, Goddard KAB, Jarvik GP, Johnston JJ, Kauffman TL, Kelley WV, Krier JB, Lewis KL, McGuire AL, McMullen C, Ou J, Plon SE, Rehm HL, Richards CS, Romasko EJ, Miren Sagardia A, Spinner NB, Thompson ML, Turbitt E, Vassy JL, Wilfond BS, Veenstra DL, Berg JS, Green RC, Biesecker LG, Hindorff LA. Secondary findings from clinical genomic sequencing: prevalence, patient perspectives, family history assessment, and health-care costs from a multisite study. Genet Med 2019;21:1100-10. [PMID: 30287922 DOI: 10.1038/s41436-018-0308-x] [Cited by in Crossref: 54] [Cited by in F6Publishing: 50] [Article Influence: 13.5] [Reference Citation Analysis]
222 Bruni F, Di Meo I, Bellacchio E, Webb BD, McFarland R, Chrzanowska-Lightowlers ZMA, He L, Skorupa E, Moroni I, Ardissone A, Walczak A, Tyynismaa H, Isohanni P, Mandel H, Prokisch H, Haack T, Bonnen PE, Enrico B, Pronicka E, Ghezzi D, Taylor RW, Diodato D. Clinical, biochemical, and genetic features associated with VARS2-related mitochondrial disease. Hum Mutat 2018;39:563-78. [PMID: 29314548 DOI: 10.1002/humu.23398] [Cited by in Crossref: 14] [Cited by in F6Publishing: 13] [Article Influence: 3.5] [Reference Citation Analysis]
223 Reis LM, Tyler RC, Weh E, Hendee KE, Schilter KF, Phillips JA 3rd, Sequeira S, Schinzel A, Semina EV. Whole exome sequencing identifies multiple diagnoses in congenital glaucoma with systemic anomalies. Clin Genet 2016;90:378-82. [PMID: 27272408 DOI: 10.1111/cge.12816] [Cited by in Crossref: 6] [Cited by in F6Publishing: 6] [Article Influence: 1.0] [Reference Citation Analysis]
224 Rexach J, Lee H, Martinez-Agosto JA, Németh AH, Fogel BL. Clinical application of next-generation sequencing to the practice of neurology. Lancet Neurol 2019;18:492-503. [PMID: 30981321 DOI: 10.1016/S1474-4422(19)30033-X] [Cited by in Crossref: 35] [Cited by in F6Publishing: 11] [Article Influence: 17.5] [Reference Citation Analysis]
225 Van den Veyver IB. Prenatally diagnosed developmental abnormalities of the central nervous system and genetic syndromes: A practical review. Prenat Diagn 2019;39:666-78. [PMID: 31353536 DOI: 10.1002/pd.5520] [Cited by in Crossref: 11] [Cited by in F6Publishing: 7] [Article Influence: 3.7] [Reference Citation Analysis]
226 Wynn J. Genomic Testing: a Genetic Counselor's Personal Reflection on Three Years of Consenting and Testing. J Genet Couns 2016;25:691-7. [PMID: 26242468 DOI: 10.1007/s10897-015-9868-y] [Cited by in Crossref: 18] [Cited by in F6Publishing: 15] [Article Influence: 2.6] [Reference Citation Analysis]
227 Wang X, Charng WL, Chen CA, Rosenfeld JA, Al Shamsi A, Al-Gazali L, McGuire M, Mew NA, Arnold GL, Qu C, Ding Y, Muzny DM, Gibbs RA, Eng CM, Walkiewicz M, Xia F, Plon SE, Lupski JR, Schaaf CP, Yang Y. Germline mutations in ABL1 cause an autosomal dominant syndrome characterized by congenital heart defects and skeletal malformations. Nat Genet 2017;49:613-7. [PMID: 28288113 DOI: 10.1038/ng.3815] [Cited by in Crossref: 25] [Cited by in F6Publishing: 23] [Article Influence: 5.0] [Reference Citation Analysis]
228 Feng Y, Ge X, Meng L, Scull J, Li J, Tian X, Zhang T, Jin W, Cheng H, Wang X, Tokita M, Liu P, Mei H, Wang Y, Li F, Schmitt ES, Zhang WV, Muzny D, Wen S, Chen Z, Yang Y, Beaudet AL, Liu X, Eng CM, Xia F, Wong LJ, Zhang J. The next generation of population-based spinal muscular atrophy carrier screening: comprehensive pan-ethnic SMN1 copy-number and sequence variant analysis by massively parallel sequencing. Genet Med 2017;19:936-44. [PMID: 28125085 DOI: 10.1038/gim.2016.215] [Cited by in Crossref: 33] [Cited by in F6Publishing: 24] [Article Influence: 6.6] [Reference Citation Analysis]
229 Nikam RM, Gripp KW, Choudhary AK, Kandula V. Imaging phenotype of multiple mitochondrial dysfunction syndrome 2, a rare BOLA3-associated leukodystrophy. Am J Med Genet A 2018;176:2787-90. [PMID: 30302924 DOI: 10.1002/ajmg.a.40490] [Cited by in Crossref: 6] [Cited by in F6Publishing: 5] [Article Influence: 1.5] [Reference Citation Analysis]
230 Dai Z, Li T, Li J, Han Z, Pan Y, Tang S, Diao X, Luo M. High-throughput long paired-end sequencing of a Fosmid library by PacBio. Plant Methods 2019;15:142. [PMID: 31788019 DOI: 10.1186/s13007-019-0525-6] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 0.3] [Reference Citation Analysis]
231 Maini I, Caraffi SG, Peluso F, Valeri L, Nicoli D, Laurie S, Baldo C, Zuffardi O, Garavelli L. Clinical Manifestations in a Girl with NAA10-Related Syndrome and Genotype-Phenotype Correlation in Females. Genes (Basel) 2021;12:900. [PMID: 34200686 DOI: 10.3390/genes12060900] [Reference Citation Analysis]
232 Auffray C, Griffin JL, Khoury MJ, Lupski JR, Schwab M. Ten years of Genome Medicine. Genome Med 2019;11:7. [PMID: 30767786 DOI: 10.1186/s13073-019-0618-x] [Cited by in Crossref: 5] [Cited by in F6Publishing: 5] [Article Influence: 1.7] [Reference Citation Analysis]
233 Rios JJ, Denton K, Yu H, Manickam K, Garner S, Russell J, Ludwig S, Rosenfeld JA, Liu P, Munch J, Sucato DJ, Beutler B, Wise CA. Saturation mutagenesis defines novel mouse models of severe spine deformity. Dis Model Mech 2021;14:dmm048901. [PMID: 34142127 DOI: 10.1242/dmm.048901] [Cited by in F6Publishing: 1] [Reference Citation Analysis]
234 Krier JB, Kalia SS, Green RC. Genomic sequencing in clinical practice: applications, challenges, and opportunities. Dialogues Clin Neurosci 2016;18:299-312. [PMID: 27757064 [PMID: 27757064 DOI: 10.31887/dcns.2016.18.3/jkrier] [Cited by in Crossref: 33] [Article Influence: 6.6] [Reference Citation Analysis]
235 Beck DB, Cho MT, Millan F, Yates C, Hannibal M, O'Connor B, Shinawi M, Connolly AM, Waggoner D, Halbach S, Angle B, Sanders V, Shen Y, Retterer K, Begtrup A, Bai R, Chung WK. A recurrent de novo CTBP1 mutation is associated with developmental delay, hypotonia, ataxia, and tooth enamel defects. Neurogenetics 2016;17:173-8. [PMID: 27094857 DOI: 10.1007/s10048-016-0482-4] [Cited by in Crossref: 16] [Cited by in F6Publishing: 12] [Article Influence: 2.7] [Reference Citation Analysis]
236 Donohue KE, Dolan SM, Watnick D, Gallagher KM, Odgis JA, Suckiel SA, Teitelman N, Gelb BD, Kenny EE, Wasserstein MP, Horowitz CR, Bauman LJ. Hope versus reality: Parent expectations of genomic testing. Patient Educ Couns 2021;104:2073-9. [PMID: 33640235 DOI: 10.1016/j.pec.2021.01.030] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 1.0] [Reference Citation Analysis]
237 Timmermans S, Stivers T. The social utility of clinical exome sequencing. Patient Educ Couns 2018;101:221-6. [PMID: 28869057 DOI: 10.1016/j.pec.2017.08.010] [Cited by in Crossref: 1] [Article Influence: 0.2] [Reference Citation Analysis]
238 Gawlinski P, Posmyk R, Gambin T, Sielicka D, Chorazy M, Nowakowska B, Jhangiani SN, Muzny DM, Bekiesinska-Figatowska M, Bal J, Boerwinkle E, Gibbs RA, Lupski JR, Wiszniewski W. PEHO Syndrome May Represent Phenotypic Expansion at the Severe End of the Early-Onset Encephalopathies. Pediatr Neurol 2016;60:83-7. [PMID: 27343026 DOI: 10.1016/j.pediatrneurol.2016.03.011] [Cited by in Crossref: 21] [Cited by in F6Publishing: 19] [Article Influence: 3.5] [Reference Citation Analysis]
239 Elliott AM, du Souich C, Adam S, Dragojlovic N, van Karnebeek C, Nelson TN, Lehman A, Lynd LD, Friedman JM; CAUSES Study. The Genomic Consultation Service: A clinical service designed to improve patient selection for genome-wide sequencing in British Columbia. Mol Genet Genomic Med 2018. [PMID: 29851296 DOI: 10.1002/mgg3.410] [Cited by in Crossref: 13] [Cited by in F6Publishing: 12] [Article Influence: 3.3] [Reference Citation Analysis]
240 Posey JE, Harel T, Liu P, Rosenfeld JA, James RA, Coban Akdemir ZH, Walkiewicz M, Bi W, Xiao R, Ding Y, Xia F, Beaudet AL, Muzny DM, Gibbs RA, Boerwinkle E, Eng CM, Sutton VR, Shaw CA, Plon SE, Yang Y, Lupski JR. Resolution of Disease Phenotypes Resulting from Multilocus Genomic Variation. N Engl J Med 2017;376:21-31. [PMID: 27959697 DOI: 10.1056/NEJMoa1516767] [Cited by in Crossref: 340] [Cited by in F6Publishing: 199] [Article Influence: 56.7] [Reference Citation Analysis]
241 Strnadová I, Nevin SM, Scully JL, Palmer EE. The opinions and experiences of people with intellectual disability regarding genetic testing and genetic medicine: A systematic review. Genet Med 2021:S1098-3600(21)05391-0. [PMID: 34906474 DOI: 10.1016/j.gim.2021.11.013] [Reference Citation Analysis]
242 Mahajan VB, Bassuk AG. Response to Sandford et al.: PRICKLE2 Variants in Epilepsy: A Call for Precision Medicine. Am J Hum Genet 2016;98:590-1. [PMID: 26942292 DOI: 10.1016/j.ajhg.2016.02.002] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 0.2] [Reference Citation Analysis]
243 Romero DM, Bahi-buisson N, Francis F. Genetics and mechanisms leading to human cortical malformations. Seminars in Cell & Developmental Biology 2018;76:33-75. [DOI: 10.1016/j.semcdb.2017.09.031] [Cited by in Crossref: 57] [Cited by in F6Publishing: 51] [Article Influence: 14.3] [Reference Citation Analysis]
244 Fogel BL. Genetic and genomic testing for neurologic disease in clinical practice. Handb Clin Neurol 2018;147:11-22. [PMID: 29325607 DOI: 10.1016/B978-0-444-63233-3.00002-6] [Cited by in Crossref: 12] [Cited by in F6Publishing: 7] [Article Influence: 3.0] [Reference Citation Analysis]
245 Pillar N, Isakov O, Weissglas-Volkov D, Botchan S, Friedman E, Arber N, Shomron N. Actionable clinical decisions based on comprehensive genomic evaluation in asymptomatic adults. Mol Genet Genomic Med 2015;3:433-9. [PMID: 26436109 DOI: 10.1002/mgg3.154] [Cited by in Crossref: 6] [Cited by in F6Publishing: 5] [Article Influence: 0.9] [Reference Citation Analysis]
246 Blackburn PR, Zepeda-Mendoza CJ, Kruisselbrink TM, Schimmenti LA, García-Miñaur S, Palomares M, Nevado J, Mori MA, Le Meur G, Klee EW, Le Caignec C, Lapunzina P, Isidor B, Babovic-Vuksanovic D. Variable expressivity of syndromic BMP4-related eye, brain, and digital anomalies: A review of the literature and description of three new cases. Eur J Hum Genet 2019;27:1379-88. [PMID: 31053785 DOI: 10.1038/s41431-019-0423-4] [Cited by in Crossref: 2] [Cited by in F6Publishing: 1] [Article Influence: 0.7] [Reference Citation Analysis]
247 Li D, Tian L, Hakonarson H. Increasing diagnostic yield by RNA-Sequencing in rare disease-bypass hurdles of interpreting intronic or splice-altering variants. Ann Transl Med 2018;6:126. [PMID: 29955586 DOI: 10.21037/atm.2018.01.14] [Cited by in Crossref: 6] [Cited by in F6Publishing: 6] [Article Influence: 1.5] [Reference Citation Analysis]
248 Dharmadhikari AV, Ghosh R, Yuan B, Liu P, Dai H, Al Masri S, Scull J, Posey JE, Jiang AH, He W, Vetrini F, Braxton AA, Ward P, Chiang T, Qu C, Gu S, Shaw CA, Smith JL, Lalani S, Stankiewicz P, Cheung SW, Bacino CA, Patel A, Breman AM, Wang X, Meng L, Xiao R, Xia F, Muzny D, Gibbs RA, Beaudet AL, Eng CM, Lupski JR, Yang Y, Bi W. Copy number variant and runs of homozygosity detection by microarrays enabled more precise molecular diagnoses in 11,020 clinical exome cases. Genome Med 2019;11:30. [PMID: 31101064 DOI: 10.1186/s13073-019-0639-5] [Cited by in Crossref: 20] [Cited by in F6Publishing: 12] [Article Influence: 6.7] [Reference Citation Analysis]
249 Délot EC, Papp JC, Sandberg DE, Vilain E; DSD-TRN Genetics Workgroup. Genetics of Disorders of Sex Development: The DSD-TRN Experience. Endocrinol Metab Clin North Am 2017;46:519-37. [PMID: 28476235 DOI: 10.1016/j.ecl.2017.01.015] [Cited by in Crossref: 25] [Cited by in F6Publishing: 23] [Article Influence: 5.0] [Reference Citation Analysis]
250 Bertier G, Joly Y. Clinical exome sequencing in France and Quebec: what are the challenges? What does the future hold? Life Sci Soc Policy 2018;14:17. [PMID: 30066179 DOI: 10.1186/s40504-018-0081-2] [Cited by in Crossref: 1] [Article Influence: 0.3] [Reference Citation Analysis]
251 Bayram Y, Karaca E, Coban Akdemir Z, Yilmaz EO, Tayfun GA, Aydin H, Torun D, Bozdogan ST, Gezdirici A, Isikay S, Atik MM, Gambin T, Harel T, El-Hattab AW, Charng WL, Pehlivan D, Jhangiani SN, Muzny DM, Karaman A, Celik T, Yuregir OO, Yildirim T, Bayhan IA, Boerwinkle E, Gibbs RA, Elcioglu N, Tuysuz B, Lupski JR. Molecular etiology of arthrogryposis in multiple families of mostly Turkish origin. J Clin Invest 2016;126:762-78. [PMID: 26752647 DOI: 10.1172/JCI84457] [Cited by in Crossref: 54] [Cited by in F6Publishing: 30] [Article Influence: 9.0] [Reference Citation Analysis]
252 Kurian AW, Antoniou AC, Domchek SM. Refining Breast Cancer Risk Stratification: Additional Genes, Additional Information. American Society of Clinical Oncology Educational Book 2016. [DOI: 10.1200/edbk_158817] [Cited by in Crossref: 6] [Cited by in F6Publishing: 13] [Article Influence: 1.0] [Reference Citation Analysis]
253 Leduc MS, Mcguire M, Madan-Khetarpal S, Ortiz D, Hayflick S, Keller K, Eng CM, Yang Y, Bi W. De novo apparent loss-of-function mutations in PRR12 in three patients with intellectual disability and iris abnormalities. Hum Genet 2018;137:257-64. [PMID: 29556724 DOI: 10.1007/s00439-018-1877-0] [Cited by in Crossref: 4] [Cited by in F6Publishing: 4] [Article Influence: 1.0] [Reference Citation Analysis]
254 [DOI: 10.1101/171322] [Cited by in Crossref: 14] [Cited by in F6Publishing: 4] [Reference Citation Analysis]
255 Tian S, Yan H, Neuhauser C, Slager SL. An analytical workflow for accurate variant discovery in highly divergent regions. BMC Genomics 2016;17:703. [PMID: 27590916 DOI: 10.1186/s12864-016-3045-z] [Cited by in Crossref: 13] [Cited by in F6Publishing: 11] [Article Influence: 2.2] [Reference Citation Analysis]
256 White JJ, Mazzeu JF, Coban-Akdemir Z, Bayram Y, Bahrambeigi V, Hoischen A, van Bon BWM, Gezdirici A, Gulec EY, Ramond F, Touraine R, Thevenon J, Shinawi M, Beaver E, Heeley J, Hoover-Fong J, Durmaz CD, Karabulut HG, Marzioglu-Ozdemir E, Cayir A, Duz MB, Seven M, Price S, Ferreira BM, Vianna-Morgante AM, Ellard S, Parrish A, Stals K, Flores-Daboub J, Jhangiani SN, Gibbs RA, Brunner HG, Sutton VR, Lupski JR, Carvalho CMB; Baylor-Hopkins Center for Mendelian Genomics. WNT Signaling Perturbations Underlie the Genetic Heterogeneity of Robinow Syndrome. Am J Hum Genet 2018;102:27-43. [PMID: 29276006 DOI: 10.1016/j.ajhg.2017.10.002] [Cited by in Crossref: 51] [Cited by in F6Publishing: 43] [Article Influence: 10.2] [Reference Citation Analysis]
257 Saida K, Fukuda T, Scott DA, Sengoku T, Ogata K, Nicosia A, Hernandez-Garcia A, Lalani SR, Azamian MS, Streff H, Liu P, Dai H, Mizuguchi T, Miyatake S, Asahina M, Ogata T, Miyake N, Matsumoto N. OTUD5 Variants Associated With X-Linked Intellectual Disability and Congenital Malformation. Front Cell Dev Biol 2021;9:631428. [PMID: 33748114 DOI: 10.3389/fcell.2021.631428] [Reference Citation Analysis]
258 Mensa-Vilaró A, Bravo García-Morato M, de la Calle-Martin O, Franco-Jarava C, Martínez-Saavedra MT, González-Granado LI, González-Roca E, Fuster JL, Alsina L, Mutchinick OM, Balderrama-Rodríguez A, Ramos E, Modesto C, Mesa-Del-Castillo P, Ortego-Centeno N, Clemente D, Souto A, Palmou N, Remesal A, Leslie KS, Gómez de la Fuente E, Yadira Bravo Gallego L, Campistol JM, Dhouib NG, Bejaoui M, Dutra LA, Terreri MT, Mosquera C, González T, Cañellas J, García-Ruiz de Morales JM, Wouters CH, Bosque MT, Cham WT, Jiménez-Treviño S, de Inocencio J, Bloomfield M, Pérez de Diego R, Martínez-Pomar N, Rodríguez-Pena R, González-Santesteban C, Soler-Palacín P, Casals F, Yagüe J, Allende LM, Rodríguez-Gallego JC, Colobran R, Martínez-Martínez L, López-Granados E, Aróstegui JI. Unexpected relevant role of gene mosaicism in patients with primary immunodeficiency diseases. J Allergy Clin Immunol 2019;143:359-68. [PMID: 30273710 DOI: 10.1016/j.jaci.2018.09.009] [Cited by in Crossref: 25] [Cited by in F6Publishing: 19] [Article Influence: 6.3] [Reference Citation Analysis]
259 Merriweather A, Murdock DR, Rosenfeld JA, Dai H, Ketkar S, Emrick L, Nicholas S, Lewis RA, Bacino CA, Scott DA, Lee B, Sutton VR, Potocki L, Burrage LC; Undiagnosed Diseases Network. A novel, de novo intronic variant in POGZ causes White-Sutton syndrome. Am J Med Genet A 2022. [PMID: 35396900 DOI: 10.1002/ajmg.a.62747] [Reference Citation Analysis]
260 Savatt JM, Myers SM. Genetic Testing in Neurodevelopmental Disorders. Front Pediatr 2021;9:526779. [PMID: 33681094 DOI: 10.3389/fped.2021.526779] [Cited by in Crossref: 9] [Cited by in F6Publishing: 8] [Article Influence: 9.0] [Reference Citation Analysis]
261 Fogel BL, Lee H, Strom SP, Deignan JL, Nelson SF. Clinical exome sequencing in neurogenetic and neuropsychiatric disorders. Ann N Y Acad Sci 2016;1366:49-60. [PMID: 26250888 DOI: 10.1111/nyas.12850] [Cited by in Crossref: 17] [Cited by in F6Publishing: 15] [Article Influence: 2.4] [Reference Citation Analysis]
262 Stanley KE, Giordano J, Thorsten V, Buchovecky C, Thomas A, Ganapathi M, Liao J, Dharmadhikari AV, Revah-Politi A, Ernst M, Lippa N, Holmes H, Povysil G, Hostyk J, Parker CB, Goldenberg R, Saade GR, Dudley DJ, Pinar H, Hogue C, Reddy UM, Silver RM, Aggarwal V, Allen AS, Wapner RJ, Goldstein DB. Causal Genetic Variants in Stillbirth. N Engl J Med 2020;383:1107-16. [PMID: 32786180 DOI: 10.1056/NEJMoa1908753] [Cited by in Crossref: 15] [Cited by in F6Publishing: 7] [Article Influence: 7.5] [Reference Citation Analysis]
263 Tarailo-Graovac M, Zhu JYA, Matthews A, van Karnebeek CDM, Wasserman WW. Assessment of the ExAC data set for the presence of individuals with pathogenic genotypes implicated in severe Mendelian pediatric disorders. Genet Med 2017;19:1300-8. [PMID: 28471432 DOI: 10.1038/gim.2017.50] [Cited by in Crossref: 42] [Cited by in F6Publishing: 39] [Article Influence: 8.4] [Reference Citation Analysis]
264 Bi W, Glass IA, Muzny DM, Gibbs RA, Eng CM, Yang Y, Sun A. Whole exome sequencing identifies the first STRADA point mutation in a patient with polyhydramnios, megalencephaly, and symptomatic epilepsy syndrome (PMSE). Am J Med Genet A 2016;170:2181-5. [PMID: 27170158 DOI: 10.1002/ajmg.a.37727] [Cited by in Crossref: 14] [Cited by in F6Publishing: 13] [Article Influence: 2.3] [Reference Citation Analysis]
265 Salvatore M, Polizzi A, De Stefano MC, Floridia G, Baldovino S, Roccatello D, Sciascia S, Menegatti E, Remuzzi G, Daina E, Iatropoulos P, Bembi B, Da Riol RM, Ferlini A, Neri M, Novelli G, Sangiuolo F, Brancati F, Taruscio D. Improving diagnosis for rare diseases: the experience of the Italian undiagnosed Rare diseases network. Ital J Pediatr 2020;46:130. [PMID: 32928283 DOI: 10.1186/s13052-020-00883-8] [Cited by in Crossref: 2] [Cited by in F6Publishing: 1] [Article Influence: 1.0] [Reference Citation Analysis]
266 Erger F, Burau K, Elsässer M, Zimmermann K, Moog U, Netzer C. Uniparental isodisomy as a cause of recessive Mendelian disease: a diagnostic pitfall with a quick and easy solution in medium/large NGS analyses. Eur J Hum Genet 2018;26:1392-5. [PMID: 29891879 DOI: 10.1038/s41431-018-0195-2] [Cited by in Crossref: 4] [Cited by in F6Publishing: 4] [Article Influence: 1.0] [Reference Citation Analysis]
267 Doble B, Schofield D, Evans CA, Groza T, Mattick JS, Field M, Roscioli T. Impacts of genomics on the health and social costs of intellectual disability. J Med Genet 2020;57:479-86. [PMID: 31980565 DOI: 10.1136/jmedgenet-2019-106445] [Cited by in Crossref: 4] [Cited by in F6Publishing: 3] [Article Influence: 2.0] [Reference Citation Analysis]
268 Yates CL, Monaghan KG, Copenheaver D, Retterer K, Scuffins J, Kucera CR, Friedman B, Richard G, Juusola J. Whole-exome sequencing on deceased fetuses with ultrasound anomalies: expanding our knowledge of genetic disease during fetal development. Genet Med. 2017;19:1171-1178. [PMID: 28425981 DOI: 10.1038/gim.2017.31] [Cited by in Crossref: 65] [Cited by in F6Publishing: 56] [Article Influence: 13.0] [Reference Citation Analysis]
269 Kari E, Llaci L, Go JL, Naymik M, Knowles JA, Leal SM, Rangasamy S, Huentelman MJ, Friedman RA, Schrauwen I. A de novo SIX1 variant in a patient with a rare nonsyndromic cochleovestibular nerve abnormality, cochlear hypoplasia, and bilateral sensorineural hearing loss. Mol Genet Genomic Med 2019;7:e995. [PMID: 31595699 DOI: 10.1002/mgg3.995] [Cited by in Crossref: 3] [Cited by in F6Publishing: 4] [Article Influence: 1.0] [Reference Citation Analysis]
270 Choi KD, Kim JS, Kim HJ, Jung I, Jeong SH, Lee SH, Kim DU, Kim SH, Choi SY, Shin JH, Kim DS, Park KP, Kim HS, Choi JH. Genetic Variants Associated with Episodic Ataxia in Korea. Sci Rep 2017;7:13855. [PMID: 29062094 DOI: 10.1038/s41598-017-14254-7] [Cited by in Crossref: 32] [Cited by in F6Publishing: 32] [Article Influence: 6.4] [Reference Citation Analysis]
271 Sadhwani A, Sanjana NE, Willen JM, Calculator SN, Black ED, Bean LJH, Li H, Tan WH. Two Angelman families with unusually advanced neurodevelopment carry a start codon variant in the most highly expressed UBE3A isoform. Am J Med Genet A 2018;176:1641-7. [PMID: 29737008 DOI: 10.1002/ajmg.a.38831] [Cited by in Crossref: 13] [Cited by in F6Publishing: 12] [Article Influence: 3.3] [Reference Citation Analysis]
272 Philippe J, Derhourhi M, Durand E, Vaillant E, Dechaume A, Rabearivelo I, Dhennin V, Vaxillaire M, De Graeve F, Sand O, Froguel P, Bonnefond A. What Is the Best NGS Enrichment Method for the Molecular Diagnosis of Monogenic Diabetes and Obesity? PLoS One 2015;10:e0143373. [PMID: 26599467 DOI: 10.1371/journal.pone.0143373] [Cited by in Crossref: 12] [Cited by in F6Publishing: 11] [Article Influence: 1.7] [Reference Citation Analysis]
273 Tran KT, Le VS, Vu CD, Nguyen LT. A novel de novo variant of LAMA2 contributes to merosin deficient congenital muscular dystrophy type 1A: Case report. Biomed Rep 2020;12:46-50. [PMID: 31929873 DOI: 10.3892/br.2019.1260] [Cited by in Crossref: 1] [Cited by in F6Publishing: 2] [Article Influence: 0.3] [Reference Citation Analysis]
274 Dyment DA, O'Donnell-Luria A, Agrawal PB, Coban Akdemir Z, Aleck KA, Antaki D, Al Sharhan H, Au PB, Aydin H, Beggs AH, Bilguvar K, Boerwinkle E, Brand H, Brownstein CA, Buyske S, Chodirker B, Choi J, Chudley AE, Clericuzio CL, Cox GF, Curry C, de Boer E, de Vries BBA, Dunn K, Dutmer CM, England EM, Fahrner JA, Geckinli BB, Genetti CA, Gezdirici A, Gibson WT, Gleeson JG, Greenberg CR, Hall A, Hamosh A, Hartley T, Jhangiani SN, Karaca E, Kernohan K, Lauzon JL, Lewis MES, Lowry RB, López-Giráldez F, Matise TC, McEvoy-Venneri J, McInnes B, Mhanni A, Garcia Minaur S, Moilanen J, Nguyen A, Nowaczyk MJM, Posey JE, Õunap K, Pehlivan D, Pajusalu S, Penney LS, Poterba T, Prontera P, Doriqui MJR, Sawyer SL, Sobreira N, Stanley V, Torun D, Wargowski D, Witmer PD, Wong I, Xing J, Zaki MS, Zhang Y, Boycott KM, Bamshad MJ, Nickerson DA, Blue EE, Innes AM; Care4Rare Consortium., Centers for Mendelian Genomics. Alternative genomic diagnoses for individuals with a clinical diagnosis of Dubowitz syndrome. Am J Med Genet A 2021;185:119-33. [PMID: 33098347 DOI: 10.1002/ajmg.a.61926] [Cited by in Crossref: 3] [Cited by in F6Publishing: 2] [Article Influence: 1.5] [Reference Citation Analysis]
275 Murugan M, Babb LJ, Overby Taylor C, Rasmussen LV, Freimuth RR, Venner E, Yan F, Yi V, Granite SJ, Zouk H, Aronson SJ, Power K, Fedotov A, Crosslin DR, Fasel D, Jarvik GP, Hakonarson H, Bangash H, Kullo IJ, Connolly JJ, Nestor JG, Caraballo PJ, Wei W, Wiley K, Rehm HL, Gibbs RA. Genomic considerations for FHIR®; eMERGE implementation lessons. J Biomed Inform 2021;118:103795. [PMID: 33930535 DOI: 10.1016/j.jbi.2021.103795] [Cited by in Crossref: 2] [Cited by in F6Publishing: 2] [Article Influence: 2.0] [Reference Citation Analysis]
276 Johnston JJ, van der Smagt JJ, Rosenfeld JA, Pagnamenta AT, Alswaid A, Baker EH, Blair E, Borck G, Brinkmann J, Craigen W, Dung VC, Emrick L, Everman DB, van Gassen KL, Gulsuner S, Harr MH, Jain M, Kuechler A, Leppig KA, McDonald-McGinn DM, Can NTB, Peleg A, Roeder ER, Rogers RC, Sagi-Dain L, Sapp JC, Schäffer AA, Schanze D, Stewart H, Taylor JC, Verbeek NE, Walkiewicz MA, Zackai EH, Zweier C, Zenker M, Lee B, Biesecker LG; Members of the Undiagnosed Diseases Network. Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants. Genet Med 2018;20:1175-85. [PMID: 29469822 DOI: 10.1038/gim.2017.249] [Cited by in Crossref: 60] [Cited by in F6Publishing: 55] [Article Influence: 15.0] [Reference Citation Analysis]
277 Mak CC, Leung GK, Mok GT, Yeung KS, Yang W, Fung CW, Chan SH, Lee SL, Lee NC, Pfundt R, Lau YL, Chung BH. Exome sequencing for paediatric-onset diseases: impact of the extensive involvement of medical geneticists in the diagnostic odyssey. NPJ Genom Med 2018;3:19. [PMID: 30109123 DOI: 10.1038/s41525-018-0056-5] [Cited by in Crossref: 6] [Cited by in F6Publishing: 4] [Article Influence: 1.5] [Reference Citation Analysis]
278 Tan TY, Dillon OJ, Stark Z, Schofield D, Alam K, Shrestha R, Chong B, Phelan D, Brett GR, Creed E, Jarmolowicz A, Yap P, Walsh M, Downie L, Amor DJ, Savarirayan R, McGillivray G, Yeung A, Peters H, Robertson SJ, Robinson AJ, Macciocca I, Sadedin S, Bell K, Oshlack A, Georgeson P, Thorne N, Gaff C, White SM. Diagnostic Impact and Cost-effectiveness of Whole-Exome Sequencing for Ambulant Children With Suspected Monogenic Conditions. JAMA Pediatr 2017;171:855-62. [PMID: 28759686 DOI: 10.1001/jamapediatrics.2017.1755] [Cited by in Crossref: 155] [Cited by in F6Publishing: 133] [Article Influence: 31.0] [Reference Citation Analysis]
279 Besse A, Petersen AK, Hunter JV, Appadurai V, Lalani SR, Bonnen PE. Personalized medicine approach confirms a milder case of ABAT deficiency. Mol Brain 2016;9:93. [PMID: 27903293 DOI: 10.1186/s13041-016-0273-8] [Cited by in Crossref: 12] [Cited by in F6Publishing: 13] [Article Influence: 2.0] [Reference Citation Analysis]
280 Stankiewicz P, Khan TN, Szafranski P, Slattery L, Streff H, Vetrini F, Bernstein JA, Brown CW, Rosenfeld JA, Rednam S, Scollon S, Bergstrom KL, Parsons DW, Plon SE, Vieira MW, Quaio CRDC, Baratela WAR, Acosta Guio JC, Armstrong R, Mehta SG, Rump P, Pfundt R, Lewandowski R, Fernandes EM, Shinde DN, Tang S, Hoyer J, Zweier C, Reis A, Bacino CA, Xiao R, Breman AM, Smith JL, Katsanis N, Bostwick B, Popp B, Davis EE, Yang Y; Deciphering Developmental Disorders Study. Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features. Am J Hum Genet 2017;101:503-15. [PMID: 28942966 DOI: 10.1016/j.ajhg.2017.08.014] [Cited by in Crossref: 37] [Cited by in F6Publishing: 32] [Article Influence: 7.4] [Reference Citation Analysis]
281 Chen C, Chen M, Wang L, Chern S, Wu P, Chen S, Lai S, Chang S, Yang C, Pan C, Wang W. Detection of paternal uniparental disomy 9 in a neonate with prenatally detected mosaicism for a small supernumerary marker chromosome 9 and a supernumerary ring chromosome 9. Taiwanese Journal of Obstetrics and Gynecology 2017;56:527-33. [DOI: 10.1016/j.tjog.2017.06.002] [Cited by in Crossref: 4] [Cited by in F6Publishing: 4] [Article Influence: 0.8] [Reference Citation Analysis]
282 Wang L, Liu P, Bi W, Sim T, Wang X, Walkiewicz M, Leduc MS, Meng L, Xia F, Eng CM, Yang Y, Yuan B, Dai H. Contribution of uniparental disomy in a clinical trio exome cohort of 2675 patients. Mol Genet Genomic Med 2021;9:e1792. [PMID: 34587367 DOI: 10.1002/mgg3.1792] [Reference Citation Analysis]
283 Cheung SW, Bi W. Novel applications of array comparative genomic hybridization in molecular diagnostics. Expert Rev Mol Diagn 2018;18:531-42. [PMID: 29848116 DOI: 10.1080/14737159.2018.1479253] [Cited by in Crossref: 14] [Cited by in F6Publishing: 13] [Article Influence: 3.5] [Reference Citation Analysis]
284 Lu Q, Zhang X, Cao Q, Wang C, Ding J, Zhao C, Zhang J, Ling X, Meng Q, Huo R, Li H. Expanding the Genetic and Phenotypic Spectrum of Female Infertility Caused by TUBB8 Mutations. Reprod Sci 2021. [PMID: 34494234 DOI: 10.1007/s43032-021-00694-0] [Reference Citation Analysis]
285 Verma RP. Evaluation and Risk Assessment of Congenital Anomalies in Neonates. Children (Basel) 2021;8:862. [PMID: 34682127 DOI: 10.3390/children8100862] [Reference Citation Analysis]
286 Boycott KM, Rath A, Chong JX, Hartley T, Alkuraya FS, Baynam G, Brookes AJ, Brudno M, Carracedo A, den Dunnen JT, Dyke SOM, Estivill X, Goldblatt J, Gonthier C, Groft SC, Gut I, Hamosh A, Hieter P, Höhn S, Hurles ME, Kaufmann P, Knoppers BM, Krischer JP, Macek M Jr, Matthijs G, Olry A, Parker S, Paschall J, Philippakis AA, Rehm HL, Robinson PN, Sham PC, Stefanov R, Taruscio D, Unni D, Vanstone MR, Zhang F, Brunner H, Bamshad MJ, Lochmüller H. International Cooperation to Enable the Diagnosis of All Rare Genetic Diseases. Am J Hum Genet 2017;100:695-705. [PMID: 28475856 DOI: 10.1016/j.ajhg.2017.04.003] [Cited by in Crossref: 167] [Cited by in F6Publishing: 148] [Article Influence: 33.4] [Reference Citation Analysis]
287 Kauffman TL, Wilfond BS, Jarvik GP, Leo MC, Lynch FL, Reiss JA, Richards CS, McMullen C, Nickerson D, Dorschner MO, Goddard KA. Design of a randomized controlled trial for genomic carrier screening in healthy patients seeking preconception genetic testing. Contemp Clin Trials 2017;53:100-5. [PMID: 27940182 DOI: 10.1016/j.cct.2016.12.007] [Cited by in Crossref: 17] [Cited by in F6Publishing: 18] [Article Influence: 2.8] [Reference Citation Analysis]
288 Fogel BL, Satya-Murti S, Cohen BH. Clinical exome sequencing in neurologic disease. Neurol Clin Pract 2016;6:164-76. [PMID: 27104068 DOI: 10.1212/CPJ.0000000000000239] [Cited by in Crossref: 37] [Cited by in F6Publishing: 15] [Article Influence: 6.2] [Reference Citation Analysis]
289 Zweier M, Begemann A, McWalter K, Cho MT, Abela L, Banka S, Behring B, Berger A, Brown CW, Carneiro M, Chen J, Cooper GM, Finnila CR, Guillen Sacoto MJ, Henderson A, Hüffmeier U, Joset P, Kerr B, Lesca G, Leszinski GS, McDermott JH, Meltzer MR, Monaghan KG, Mostafavi R, Õunap K, Plecko B, Powis Z, Purcarin G, Reimand T, Riedhammer KM, Schreiber JM, Sirsi D, Wierenga KJ, Wojcik MH, Papuc SM, Steindl K, Sticht H, Rauch A; Deciphering Developmental Disorders (DDD) Study. Spatially clustering de novo variants in CYFIP2, encoding the cytoplasmic FMRP interacting protein 2, cause intellectual disability and seizures. Eur J Hum Genet 2019;27:747-59. [PMID: 30664714 DOI: 10.1038/s41431-018-0331-z] [Cited by in Crossref: 16] [Cited by in F6Publishing: 11] [Article Influence: 5.3] [Reference Citation Analysis]
290 Malam F, Hartley T, Gillespie MK, Armour CM, Bariciak E, Graham GE, Nikkel SM, Richer J, Sawyer SL, Boycott KM, Dyment DA. Benchmarking outcomes in the Neonatal Intensive Care Unit: Cytogenetic and molecular diagnostic rates in a retrospective cohort. Am J Med Genet 2017;173:1839-47. [DOI: 10.1002/ajmg.a.38250] [Cited by in Crossref: 15] [Cited by in F6Publishing: 15] [Article Influence: 3.0] [Reference Citation Analysis]
291 Chen W, Lin J, Wang L, Li X, Zhao S, Liu J, Akdemir ZC, Zhao Y, Du R, Ye Y, Song X, Zhang Y, Yan Z, Yang X, Lin M, Shen J, Wang S, Gao N, Yang Y, Liu Y, Li W, Liu J, Zhang N, Yang X, Xu Y, Zhang J, Delgado MR, Posey JE, Qiu G, Rios JJ, Liu P, Wise CA, Zhang F, Wu Z, Lupski JR, Wu N. TBX6 missense variants expand the mutational spectrum in a non-Mendelian inheritance disease. Hum Mutat 2020;41:182-95. [PMID: 31471994 DOI: 10.1002/humu.23907] [Cited by in Crossref: 12] [Cited by in F6Publishing: 11] [Article Influence: 4.0] [Reference Citation Analysis]
292 Gieldon L, Mackenroth L, Kahlert AK, Lemke JR, Porrmann J, Schallner J, von der Hagen M, Markus S, Weidensee S, Novotna B, Soerensen C, Klink B, Wagner J, Tzschach A, Jahn A, Kuhlee F, Hackmann K, Schrock E, Di Donato N, Rump A. Diagnostic value of partial exome sequencing in developmental disorders. PLoS One 2018;13:e0201041. [PMID: 30091983 DOI: 10.1371/journal.pone.0201041] [Cited by in Crossref: 15] [Cited by in F6Publishing: 14] [Article Influence: 3.8] [Reference Citation Analysis]
293 Liu P, Meng L, Normand EA, Xia F, Song X, Ghazi A, Rosenfeld J, Magoulas PL, Braxton A, Ward P, Dai H, Yuan B, Bi W, Xiao R, Wang X, Chiang T, Vetrini F, He W, Cheng H, Dong J, Gijavanekar C, Benke PJ, Bernstein JA, Eble T, Eroglu Y, Erwin D, Escobar L, Gibson JB, Gripp K, Kleppe S, Koenig MK, Lewis AM, Natowicz M, Mancias P, Minor L, Scaglia F, Schaaf CP, Streff H, Vernon H, Uhles CL, Zackai EH, Wu N, Sutton VR, Beaudet AL, Muzny D, Gibbs RA, Posey JE, Lalani S, Shaw C, Eng CM, Lupski JR, Yang Y. Reanalysis of Clinical Exome Sequencing Data. N Engl J Med 2019;380:2478-80. [PMID: 31216405 DOI: 10.1056/NEJMc1812033] [Cited by in Crossref: 80] [Cited by in F6Publishing: 36] [Article Influence: 26.7] [Reference Citation Analysis]
294 Li L, Bainbridge MN, Tan Y, Willerson JT, Marian AJ. A Potential Oligogenic Etiology of Hypertrophic Cardiomyopathy: A Classic Single-Gene Disorder. Circ Res 2017;120:1084-90. [PMID: 28223422 DOI: 10.1161/CIRCRESAHA.116.310559] [Cited by in Crossref: 31] [Cited by in F6Publishing: 18] [Article Influence: 6.2] [Reference Citation Analysis]
295 Neissi M, Al-badran AI, Mohammadi-asl J. Exome sequencing identifies a novel GUCY2D mutation in an Iranian family with Leber congenital amaurosis-1: a case report. Egypt J Med Hum Genet 2022;23. [DOI: 10.1186/s43042-022-00217-9] [Reference Citation Analysis]
296 Elgersma Y, Sonzogni M. UBE3A reinstatement as a disease-modifying therapy for Angelman syndrome. Dev Med Child Neurol 2021;63:802-7. [PMID: 33543479 DOI: 10.1111/dmcn.14831] [Cited by in Crossref: 2] [Cited by in F6Publishing: 2] [Article Influence: 2.0] [Reference Citation Analysis]
297 Zhang H, Yang L, Duan J, Zeng Q, Chen L, Fang Y, Hu J, Cao D, Liao J. Phenotypes in Children With SYNGAP1 Encephalopathy in China. Front Neurosci 2021;15:761473. [PMID: 34924933 DOI: 10.3389/fnins.2021.761473] [Reference Citation Analysis]
298 Ahrens-Nicklas RC, Umanah GK, Sondheimer N, Deardorff MA, Wilkens AB, Conlin LK, Santani AB, Nesbitt A, Juulsola J, Ma E, Dawson TM, Dawson VL, Marsh ED. Precision therapy for a new disorder of AMPA receptor recycling due to mutations in ATAD1. Neurol Genet 2017;3:e130. [PMID: 28180185 DOI: 10.1212/NXG.0000000000000130] [Cited by in Crossref: 25] [Cited by in F6Publishing: 14] [Article Influence: 5.0] [Reference Citation Analysis]
299 Polla DL, Cardoso MT, Silva MC, Cardoso IC, Medina CT, Araujo R, Fernandes CC, Reis AM, de Andrade RV, Pereira RW, Pogue R. Use of Targeted Exome Sequencing for Molecular Diagnosis of Skeletal Disorders. PLoS One 2015;10:e0138314. [PMID: 26380986 DOI: 10.1371/journal.pone.0138314] [Cited by in Crossref: 16] [Cited by in F6Publishing: 15] [Article Influence: 2.3] [Reference Citation Analysis]
300 Lupski JR. Structural variation mutagenesis of the human genome: Impact on disease and evolution. Environ Mol Mutagen 2015;56:419-36. [PMID: 25892534 DOI: 10.1002/em.21943] [Cited by in Crossref: 90] [Cited by in F6Publishing: 70] [Article Influence: 12.9] [Reference Citation Analysis]
301 Koriath CAM, Kenny J, Ryan NS, Rohrer JD, Schott JM, Houlden H, Fox NC, Tabrizi SJ, Mead S. Genetic testing in dementia - utility and clinical strategies. Nat Rev Neurol 2021;17:23-36. [PMID: 33168964 DOI: 10.1038/s41582-020-00416-1] [Cited by in Crossref: 3] [Cited by in F6Publishing: 2] [Article Influence: 1.5] [Reference Citation Analysis]
302 Worthey EA. Analysis and Annotation of Whole-Genome or Whole-Exome Sequencing Derived Variants for Clinical Diagnosis. Curr Protoc Hum Genet 2017;95:9.24.1-9.24.28. [PMID: 29044471 DOI: 10.1002/cphg.49] [Cited by in Crossref: 7] [Cited by in F6Publishing: 9] [Article Influence: 1.4] [Reference Citation Analysis]
303 Bodian DL, Klein E, Iyer RK, Wong WS, Kothiyal P, Stauffer D, Huddleston KC, Gaither AD, Remsburg I, Khromykh A, Baker RL, Maxwell GL, Vockley JG, Niederhuber JE, Solomon BD. Utility of whole-genome sequencing for detection of newborn screening disorders in a population cohort of 1,696 neonates. Genet Med 2016;18:221-30. [PMID: 26334177 DOI: 10.1038/gim.2015.111] [Cited by in Crossref: 59] [Cited by in F6Publishing: 51] [Article Influence: 8.4] [Reference Citation Analysis]
304 Myers KA, Bennett MF, Chow CW, Carden SM, Mandelstam SA, Bahlo M, Scheffer IE. Mosaic uniparental disomy results in GM1 gangliosidosis with normal enzyme assay. Am J Med Genet 2018;176:230-4. [DOI: 10.1002/ajmg.a.38549] [Cited by in Crossref: 1] [Cited by in F6Publishing: 2] [Article Influence: 0.2] [Reference Citation Analysis]
305 Li Z, Zhang F, Wang Y, Qiu Y, Wu Y, Lu Y, Yang L, Qu WJ, Wang H, Zhou W, Tian W, Valencia A. PhenoPro: a novel toolkit for assisting in the diagnosis of Mendelian disease. Bioinformatics 2019;35:3559-66. [DOI: 10.1093/bioinformatics/btz100] [Cited by in Crossref: 8] [Cited by in F6Publishing: 11] [Article Influence: 2.7] [Reference Citation Analysis]
306 Kaul KL, Sabatini LM, Tsongalis GJ, Caliendo AM, Olsen RJ, Ashwood ER, Bale S, Benirschke R, Carlow D, Funke BH, Grody WW, Hayden RT, Hegde M, Lyon E, Murata K, Pessin M, Press RD, Thomson RB. The Case for Laboratory Developed Procedures: Quality and Positive Impact on Patient Care. Acad Pathol 2017;4:2374289517708309. [PMID: 28815200 DOI: 10.1177/2374289517708309] [Cited by in Crossref: 12] [Cited by in F6Publishing: 8] [Article Influence: 2.4] [Reference Citation Analysis]
307 Cassa CA, Akle S, Jordan DM, Rosenfeld JA. When "N of 2" is not enough: integrating statistical and functional data in gene discovery. Cold Spring Harb Mol Case Stud 2017;3:a001099. [PMID: 28487880 DOI: 10.1101/mcs.a001099] [Cited by in Crossref: 1] [Article Influence: 0.2] [Reference Citation Analysis]
308 Ramasamy R, Bakırcıoğlu ME, Cengiz C, Karaca E, Scovell J, Jhangiani SN, Akdemir ZC, Bainbridge M, Yu Y, Huff C, Gibbs RA, Lupski JR, Lamb DJ. Whole-exome sequencing identifies novel homozygous mutation in NPAS2 in family with nonobstructive azoospermia. Fertil Steril 2015;104:286-91. [PMID: 25956372 DOI: 10.1016/j.fertnstert.2015.04.001] [Cited by in Crossref: 46] [Cited by in F6Publishing: 38] [Article Influence: 6.6] [Reference Citation Analysis]
309 Gibson S, Azamian MS, Lalani SR, Yen KG, Sutton VR, Scott DA. Recessive ACO2 variants as a cause of isolated ophthalmologic phenotypes. Am J Med Genet A 2020;182:1960-6. [PMID: 32449285 DOI: 10.1002/ajmg.a.61634] [Cited by in Crossref: 2] [Cited by in F6Publishing: 2] [Article Influence: 1.0] [Reference Citation Analysis]
310 Weinstein V, Tanpaiboon P, Chapman KA, Ah Mew N, Hofherr S. Do the data really support ordering fragile X testing as a first-tier test without clinical features? Genet Med 2017;19:1317-22. [PMID: 28541279 DOI: 10.1038/gim.2017.64] [Cited by in Crossref: 14] [Cited by in F6Publishing: 9] [Article Influence: 2.8] [Reference Citation Analysis]
311 Gammon A, Neklason DW. Confidentiality & the Risk of Genetic Discrimination: What Surgeons Need to Know. Surg Oncol Clin N Am 2015;24:667-81. [PMID: 26363536 DOI: 10.1016/j.soc.2015.06.004] [Cited by in Crossref: 2] [Cited by in F6Publishing: 2] [Article Influence: 0.3] [Reference Citation Analysis]
312 Aneichyk T, Hendriks WT, Yadav R, Shin D, Gao D, Vaine CA, Collins RL, Domingo A, Currall B, Stortchevoi A, Multhaupt-Buell T, Penney EB, Cruz L, Dhakal J, Brand H, Hanscom C, Antolik C, Dy M, Ragavendran A, Underwood J, Cantsilieris S, Munson KM, Eichler EE, Acuña P, Go C, Jamora RDG, Rosales RL, Church DM, Williams SR, Garcia S, Klein C, Müller U, Wilhelmsen KC, Timmers HTM, Sapir Y, Wainger BJ, Henderson D, Ito N, Weisenfeld N, Jaffe D, Sharma N, Breakefield XO, Ozelius LJ, Bragg DC, Talkowski ME. Dissecting the Causal Mechanism of X-Linked Dystonia-Parkinsonism by Integrating Genome and Transcriptome Assembly. Cell 2018;172:897-909.e21. [PMID: 29474918 DOI: 10.1016/j.cell.2018.02.011] [Cited by in Crossref: 88] [Cited by in F6Publishing: 79] [Article Influence: 29.3] [Reference Citation Analysis]
313 Boeldt DL, Cheung C, Ariniello L, Darst BF, Topol S, Schork NJ, Philis-Tsimikas A, Torkamani A, Fortmann AL, Bloss CS. Patient perspectives on whole-genome sequencing for undiagnosed diseases. Per Med 2017;14:17-25. [PMID: 29749824 DOI: 10.2217/pme-2016-0050] [Cited by in Crossref: 5] [Cited by in F6Publishing: 4] [Article Influence: 0.8] [Reference Citation Analysis]
314 Natarajan P, Gold NB, Bick AG, McLaughlin H, Kraft P, Rehm HL, Peloso GM, Wilson JG, Correa A, Seidman JG, Seidman CE, Kathiresan S, Green RC. Aggregate penetrance of genomic variants for actionable disorders in European and African Americans. Sci Transl Med 2016;8:364ra151. [PMID: 27831900 DOI: 10.1126/scitranslmed.aag2367] [Cited by in Crossref: 40] [Cited by in F6Publishing: 37] [Article Influence: 8.0] [Reference Citation Analysis]
315 Bick D, Jones M, Taylor SL, Taft RJ, Belmont J. Case for genome sequencing in infants and children with rare, undiagnosed or genetic diseases. J Med Genet 2019;56:783-91. [PMID: 31023718 DOI: 10.1136/jmedgenet-2019-106111] [Cited by in Crossref: 29] [Cited by in F6Publishing: 26] [Article Influence: 9.7] [Reference Citation Analysis]
316 Lee H, Huang AY, Wang LK, Yoon AJ, Renteria G, Eskin A, Signer RH, Dorrani N, Nieves-Rodriguez S, Wan J, Douine ED, Woods JD, Dell'Angelica EC, Fogel BL, Martin MG, Butte MJ, Parker NH, Wang RT, Shieh PB, Wong DA, Gallant N, Singh KE, Tavyev Asher YJ, Sinsheimer JS, Krakow D, Loo SK, Allard P, Papp JC, Palmer CGS, Martinez-Agosto JA, Nelson SF; Undiagnosed Diseases Network. Diagnostic utility of transcriptome sequencing for rare Mendelian diseases. Genet Med 2020;22:490-9. [PMID: 31607746 DOI: 10.1038/s41436-019-0672-1] [Cited by in Crossref: 34] [Cited by in F6Publishing: 34] [Article Influence: 11.3] [Reference Citation Analysis]
317 Rossi M, El-Khechen D, Black MH, Farwell Hagman KD, Tang S, Powis Z. Outcomes of Diagnostic Exome Sequencing in Patients With Diagnosed or Suspected Autism Spectrum Disorders. Pediatr Neurol 2017;70:34-43.e2. [PMID: 28330790 DOI: 10.1016/j.pediatrneurol.2017.01.033] [Cited by in Crossref: 42] [Cited by in F6Publishing: 38] [Article Influence: 8.4] [Reference Citation Analysis]
318 Osinalde N, Duarri A, Ramirez J, Barrio R, Perez de Nanclares G, Mayor U. Impaired proteostasis in rare neurological diseases. Semin Cell Dev Biol 2019;93:164-77. [PMID: 30355526 DOI: 10.1016/j.semcdb.2018.10.007] [Cited by in Crossref: 6] [Cited by in F6Publishing: 6] [Article Influence: 1.5] [Reference Citation Analysis]
319 Tomlinson AN, Skinner D, Perry DL, Scollon SR, Roche MI, Bernhardt BA. "Not Tied Up Neatly with a Bow": Professionals' Challenging Cases in Informed Consent for Genomic Sequencing. J Genet Couns 2016;25:62-72. [PMID: 25911622 DOI: 10.1007/s10897-015-9842-8] [Cited by in Crossref: 36] [Cited by in F6Publishing: 33] [Article Influence: 5.1] [Reference Citation Analysis]
320 Pehlivan D, Beck CR, Okamoto Y, Harel T, Akdemir ZH, Jhangiani SN, Withers MA, Goksungur MT, Carvalho CM, Czesnik D, Gonzaga-Jauregui C, Wiszniewski W, Muzny DM, Gibbs RA, Rautenstrauss B, Sereda MW, Lupski JR. The role of combined SNV and CNV burden in patients with distal symmetric polyneuropathy. Genet Med 2016;18:443-51. [PMID: 26378787 DOI: 10.1038/gim.2015.124] [Cited by in Crossref: 12] [Cited by in F6Publishing: 13] [Article Influence: 1.7] [Reference Citation Analysis]
321 Luo X, Rosenfeld JA, Yamamoto S, Harel T, Zuo Z, Hall M, Wierenga KJ, Pastore MT, Bartholomew D, Delgado MR, Rotenberg J, Lewis RA, Emrick L, Bacino CA, Eldomery MK, Coban Akdemir Z, Xia F, Yang Y, Lalani SR, Lotze T, Lupski JR, Lee B, Bellen HJ, Wangler MF; Members of the UDN. Clinically severe CACNA1A alleles affect synaptic function and neurodegeneration differentially. PLoS Genet 2017;13:e1006905. [PMID: 28742085 DOI: 10.1371/journal.pgen.1006905] [Cited by in Crossref: 36] [Cited by in F6Publishing: 33] [Article Influence: 7.2] [Reference Citation Analysis]
322 Amr SS, Al Turki SH, Lebo M, Sarmady M, Rehm HL, Abou Tayoun AN. Using large sequencing data sets to refine intragenic disease regions and prioritize clinical variant interpretation. Genet Med 2017;19:496-504. [PMID: 27657688 DOI: 10.1038/gim.2016.134] [Cited by in Crossref: 12] [Cited by in F6Publishing: 9] [Article Influence: 2.0] [Reference Citation Analysis]
323 Posey JE, Rosenfeld JA, James RA, Bainbridge M, Niu Z, Wang X, Dhar S, Wiszniewski W, Akdemir ZH, Gambin T, Xia F, Person RE, Walkiewicz M, Shaw CA, Sutton VR, Beaudet AL, Muzny D, Eng CM, Yang Y, Gibbs RA, Lupski JR, Boerwinkle E, Plon SE. Molecular diagnostic experience of whole-exome sequencing in adult patients. Genet Med 2016;18:678-85. [PMID: 26633545 DOI: 10.1038/gim.2015.142] [Cited by in Crossref: 120] [Cited by in F6Publishing: 113] [Article Influence: 17.1] [Reference Citation Analysis]
324 Gonzaga-Jauregui C, Harel T, Gambin T, Kousi M, Griffin LB, Francescatto L, Ozes B, Karaca E, Jhangiani SN, Bainbridge MN, Lawson KS, Pehlivan D, Okamoto Y, Withers M, Mancias P, Slavotinek A, Reitnauer PJ, Goksungur MT, Shy M, Crawford TO, Koenig M, Willer J, Flores BN, Pediaditrakis I, Us O, Wiszniewski W, Parman Y, Antonellis A, Muzny DM, Katsanis N, Battaloglu E, Boerwinkle E, Gibbs RA, Lupski JR; Baylor-Hopkins Center for Mendelian Genomics. Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex Neuropathy. Cell Rep 2015;12:1169-83. [PMID: 26257172 DOI: 10.1016/j.celrep.2015.07.023] [Cited by in Crossref: 148] [Cited by in F6Publishing: 139] [Article Influence: 21.1] [Reference Citation Analysis]
325 Nelson SC, Crouch JM, Bamshad MJ, Tabor HK, Yu JH. Use of metaphors about exome and whole genome sequencing. Am J Med Genet A 2016;170A:1127-33. [PMID: 26822973 DOI: 10.1002/ajmg.a.37571] [Cited by in Crossref: 3] [Cited by in F6Publishing: 3] [Article Influence: 0.5] [Reference Citation Analysis]
326 de Macena Sobreira NL, Hamosh A. Next-generation sequencing and the evolution of data sharing. Am J Med Genet A 2021;185:2633-5. [PMID: 33960641 DOI: 10.1002/ajmg.a.62239] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 1.0] [Reference Citation Analysis]
327 Wu E, Hwu W, Chien Y, Hsu C, Chen T, Chen N, Chou H, Tsao P, Fan P, Tsai I, Lin S, Hsieh W, Chang T, Chen C, Lee C, Chou Y, Chiu P, Tsai W, Hsiung H, Lai F, Lee N. Critical Trio Exome Benefits In-Time Decision-Making for Pediatric Patients With Severe Illnesses*: . Pediatric Critical Care Medicine 2019;20:1021-6. [DOI: 10.1097/pcc.0000000000002068] [Cited by in Crossref: 8] [Cited by in F6Publishing: 4] [Article Influence: 2.7] [Reference Citation Analysis]
328 Gotway G, Crossley E, Kozlitina J, Xing C, Fan J, Hornbuckle C, Thies J, Michel D, Quinn C, Scheuerle AE, Umana LA, Uhles CL, Park JY. Clinical Exome Studies Have Inconsistent Coverage. Clin Chem 2020;66:199-206. [PMID: 32609854 DOI: 10.1093/clinchem.2019.306795] [Cited by in Crossref: 7] [Cited by in F6Publishing: 4] [Article Influence: 3.5] [Reference Citation Analysis]
329 Gambin T, Yuan B, Bi W, Liu P, Rosenfeld JA, Coban-Akdemir Z, Pursley AN, Nagamani SCS, Marom R, Golla S, Dengle L, Petrie HG, Matalon R, Emrick L, Proud MB, Treadwell-Deering D, Chao HT, Koillinen H, Brown C, Urraca N, Mostafavi R, Bernes S, Roeder ER, Nugent KM, Bader PI, Bellus G, Cummings M, Northrup H, Ashfaq M, Westman R, Wildin R, Beck AE, Immken L, Elton L, Varghese S, Buchanan E, Faivre L, Lefebvre M, Schaaf CP, Walkiewicz M, Yang Y, Kang SL, Lalani SR, Bacino CA, Beaudet AL, Breman AM, Smith JL, Cheung SW, Lupski JR, Patel A, Shaw CA, Stankiewicz P. Identification of novel candidate disease genes from de novo exonic copy number variants. Genome Med 2017;9:83. [PMID: 28934986 DOI: 10.1186/s13073-017-0472-7] [Cited by in Crossref: 35] [Cited by in F6Publishing: 32] [Article Influence: 7.0] [Reference Citation Analysis]
330 Harripaul R, Noor A, Ayub M, Vincent JB. The Use of Next-Generation Sequencing for Research and Diagnostics for Intellectual Disability. Cold Spring Harb Perspect Med 2017;7:a026864. [PMID: 28250017 DOI: 10.1101/cshperspect.a026864] [Cited by in Crossref: 20] [Cited by in F6Publishing: 21] [Article Influence: 4.0] [Reference Citation Analysis]
331 Shickh S, Clausen M, Mighton C, Casalino S, Joshi E, Glogowski E, Schrader KA, Scheer A, Elser C, Panchal S, Eisen A, Graham T, Aronson M, Semotiuk KM, Winter-Paquette L, Evans M, Lerner-Ellis J, Carroll JC, Hamilton JG, Offit K, Robson M, Thorpe KE, Laupacis A, Bombard Y. Evaluation of a decision aid for incidental genomic results, the Genomics ADvISER: protocol for a mixed methods randomised controlled trial. BMJ Open 2018;8:e021876. [PMID: 29700101 DOI: 10.1136/bmjopen-2018-021876] [Cited by in Crossref: 16] [Cited by in F6Publishing: 15] [Article Influence: 4.0] [Reference Citation Analysis]
332 Johnson LM, Valdez JM, Quinn EA, Sykes AD, McGee RB, Nuccio R, Hines-Dowell SJ, Baker JN, Kesserwan C, Nichols KE, Mandrell BN. Integrating next-generation sequencing into pediatric oncology practice: An assessment of physician confidence and understanding of clinical genomics. Cancer 2017;123:2352-9. [PMID: 28192596 DOI: 10.1002/cncr.30581] [Cited by in Crossref: 33] [Cited by in F6Publishing: 30] [Article Influence: 6.6] [Reference Citation Analysis]
333 Strande NT, Berg JS. Defining the Clinical Value of a Genomic Diagnosis in the Era of Next-Generation Sequencing. Annu Rev Genomics Hum Genet 2016;17:303-32. [PMID: 27362341 DOI: 10.1146/annurev-genom-083115-022348] [Cited by in Crossref: 31] [Cited by in F6Publishing: 26] [Article Influence: 5.2] [Reference Citation Analysis]
334 Campbell IM, Shaw CA, Stankiewicz P, Lupski JR. Somatic mosaicism: implications for disease and transmission genetics. Trends Genet 2015;31:382-92. [PMID: 25910407 DOI: 10.1016/j.tig.2015.03.013] [Cited by in Crossref: 171] [Cited by in F6Publishing: 144] [Article Influence: 24.4] [Reference Citation Analysis]
335 Painous C, van Os NJH, Delamarre A, Michailoviene I, Marti MJ, van de Warrenburg BP, Meissner WG, Utkus A, Reinhard C, Graessner H, Tijssen MA. Management of rare movement disorders in Europe: outcome of surveys of the European Reference Network for Rare Neurological Diseases. Eur J Neurol 2020;27:1493-500. [PMID: 32386078 DOI: 10.1111/ene.14302] [Cited by in Crossref: 2] [Cited by in F6Publishing: 2] [Article Influence: 1.0] [Reference Citation Analysis]
336 Christensen KD, Roberts JS, Whitehouse PJ, Royal CD, Obisesan TO, Cupples LA, Vernarelli JA, Bhatt DL, Linnenbringer E, Butson MB, Fasaye GA, Uhlmann WR, Hiraki S, Wang N, Cook-Deegan R, Green RC; REVEAL Study Group*. Disclosing Pleiotropic Effects During Genetic Risk Assessment for Alzheimer Disease: A Randomized Trial. Ann Intern Med 2016;164:155-63. [PMID: 26810768 DOI: 10.7326/M15-0187] [Cited by in Crossref: 23] [Cited by in F6Publishing: 16] [Article Influence: 3.8] [Reference Citation Analysis]
337 Vinkšel M, Writzl K, Maver A, Peterlin B. Improving diagnostics of rare genetic diseases with NGS approaches. J Community Genet 2021;12:247-56. [PMID: 33452619 DOI: 10.1007/s12687-020-00500-5] [Cited by in Crossref: 3] [Cited by in F6Publishing: 2] [Article Influence: 3.0] [Reference Citation Analysis]
338 Danhauser K, Alhaddad B, Makowski C, Piekutowska-Abramczuk D, Syrbe S, Gomez-Ospina N, Manning MA, Kostera-Pruszczyk A, Krahn-Peper C, Berutti R, Kovács-Nagy R, Gusic M, Graf E, Laugwitz L, Röblitz M, Wroblewski A, Hartmann H, Das AM, Bültmann E, Fang F, Xu M, Schatz UA, Karall D, Zellner H, Haberlandt E, Feichtinger RG, Mayr JA, Meitinger T, Prokisch H, Strom TM, Płoski R, Hoffmann GF, Pronicki M, Bonnen PE, Morlot S, Haack TB. Bi-allelic ADPRHL2 Mutations Cause Neurodegeneration with Developmental Delay, Ataxia, and Axonal Neuropathy. Am J Hum Genet 2018;103:817-25. [PMID: 30401461 DOI: 10.1016/j.ajhg.2018.10.005] [Cited by in Crossref: 19] [Cited by in F6Publishing: 20] [Article Influence: 4.8] [Reference Citation Analysis]
339 Gale JR, Kosobucki GJ, Hartnett-Scott KA, Aizenman E. Imprecision in Precision Medicine: Differential Response of a Disease-Linked GluN2A Mutant to NMDA Channel Blockers. Front Pharmacol 2021;12:773455. [PMID: 34776984 DOI: 10.3389/fphar.2021.773455] [Reference Citation Analysis]
340 Ceyhan-Birsoy O, Murry JB, Machini K, Lebo MS, Yu TW, Fayer S, Genetti CA, Schwartz TS, Agrawal PB, Parad RB, Holm IA, McGuire AL, Green RC, Rehm HL, Beggs AH; BabySeq Project Team. Interpretation of Genomic Sequencing Results in Healthy and Ill Newborns: Results from the BabySeq Project. Am J Hum Genet 2019;104:76-93. [PMID: 30609409 DOI: 10.1016/j.ajhg.2018.11.016] [Cited by in Crossref: 63] [Cited by in F6Publishing: 51] [Article Influence: 21.0] [Reference Citation Analysis]
341 Picoraro JA, Chung WK. Delineation of New Disorders and Phenotypic Expansion of Known Disorders Through Whole Exome Sequencing. Curr Genet Med Rep 2015;3:209-18. [DOI: 10.1007/s40142-015-0079-5] [Cited by in Crossref: 2] [Article Influence: 0.3] [Reference Citation Analysis]
342 Friedman JM, Bombard Y, Cornel MC, Fernandez CV, Junker AK, Plon SE, Stark Z, Knoppers BM; Paediatric Task Team of the Global Alliance for Genomics and Health Regulatory and Ethics Work Stream. Genome-wide sequencing in acutely ill infants: genomic medicine's critical application? Genet Med 2019;21:498-504. [PMID: 29895853 DOI: 10.1038/s41436-018-0055-z] [Cited by in Crossref: 22] [Cited by in F6Publishing: 21] [Article Influence: 5.5] [Reference Citation Analysis]
343 Fattahi Z, Kalhor Z, Fadaee M, Vazehan R, Parsimehr E, Abolhassani A, Beheshtian M, Zamani G, Nafissi S, Nilipour Y, Akbari M, Kahrizi K, Kariminejad A, Najmabadi H. Improved diagnostic yield of neuromuscular disorders applying clinical exome sequencing in patients arising from a consanguineous population. Clin Genet 2016;91:386-402. [DOI: 10.1111/cge.12810] [Cited by in Crossref: 24] [Cited by in F6Publishing: 23] [Article Influence: 4.0] [Reference Citation Analysis]
344 Beauregard-Lacroix E, Tardif J, Lemyre E, Kibar Z, Faure C, Campeau PM. Genetic Testing in a Cohort of Complex Esophageal Atresia. Mol Syndromol 2017;8:236-43. [PMID: 28878607 DOI: 10.1159/000477429] [Cited by in Crossref: 5] [Cited by in F6Publishing: 4] [Article Influence: 1.0] [Reference Citation Analysis]
345 Fadista J, Oskolkov N, Hansson O, Groop L. LoFtool: a gene intolerance score based on loss-of-function variants in 60 706 individuals. Bioinformatics 2017;33:471-4. [PMID: 27563026 DOI: 10.1093/bioinformatics/btv602] [Cited by in Crossref: 17] [Cited by in F6Publishing: 26] [Article Influence: 3.4] [Reference Citation Analysis]
346 Durward-Akhurst SA, Schaefer RJ, Grantham B, Carey WK, Mickelson JR, McCue ME. Genetic Variation and the Distribution of Variant Types in the Horse. Front Genet 2021;12:758366. [PMID: 34925451 DOI: 10.3389/fgene.2021.758366] [Reference Citation Analysis]
347 Shaomei W, Yongbin P, Daiyue Y, Zhaorong H, Huirong Y, Nan L, Huanbin L, Yuzhu L, Kai W. Whole Exome Sequencing Applied to 42 Han Chinese Patients with Posterior Hypospadias. Steroids 2022;:109041. [PMID: 35561789 DOI: 10.1016/j.steroids.2022.109041] [Reference Citation Analysis]
348 Mattick JS, Dinger M, Schonrock N, Cowley M. Whole genome sequencing provides better diagnostic yield and future value than whole exome sequencing. Medical Journal of Australia 2018;209:197-9. [DOI: 10.5694/mja17.01176] [Cited by in Crossref: 18] [Cited by in F6Publishing: 11] [Article Influence: 4.5] [Reference Citation Analysis]
349 秀芬 李, 上 遲, 啟仁 蔡. [PMID: 33289097 DOI: 10.1111/dmcn.14729] [Reference Citation Analysis]
350 Cummings BB, Marshall JL, Tukiainen T, Lek M, Donkervoort S, Foley AR, Bolduc V, Waddell LB, Sandaradura SA, O'Grady GL, Estrella E, Reddy HM, Zhao F, Weisburd B, Karczewski KJ, O'Donnell-Luria AH, Birnbaum D, Sarkozy A, Hu Y, Gonorazky H, Claeys K, Joshi H, Bournazos A, Oates EC, Ghaoui R, Davis MR, Laing NG, Topf A, Kang PB, Beggs AH, North KN, Straub V, Dowling JJ, Muntoni F, Clarke NF, Cooper ST, Bönnemann CG, MacArthur DG; Genotype-Tissue Expression Consortium. Improving genetic diagnosis in Mendelian disease with transcriptome sequencing. Sci Transl Med 2017;9:eaal5209. [PMID: 28424332 DOI: 10.1126/scitranslmed.aal5209] [Cited by in Crossref: 277] [Cited by in F6Publishing: 248] [Article Influence: 55.4] [Reference Citation Analysis]
351 Li AH, Hanchard NA, Furthner D, Fernbach S, Azamian M, Nicosia A, Rosenfeld J, Muzny D, D'Alessandro LCA, Morris S, Jhangiani S, Parekh DR, Franklin WJ, Lewin M, Towbin JA, Penny DJ, Fraser CD, Martin JF, Eng C, Lupski JR, Gibbs RA, Boerwinkle E, Belmont JW. Whole exome sequencing in 342 congenital cardiac left sided lesion cases reveals extensive genetic heterogeneity and complex inheritance patterns. Genome Med 2017;9:95. [PMID: 29089047 DOI: 10.1186/s13073-017-0482-5] [Cited by in Crossref: 20] [Cited by in F6Publishing: 18] [Article Influence: 4.0] [Reference Citation Analysis]
352 Thompson R, Spendiff S, Roos A, Bourque PR, Warman Chardon J, Kirschner J, Horvath R, Lochmüller H. Advances in the diagnosis of inherited neuromuscular diseases and implications for therapy development. Lancet Neurol 2020;19:522-32. [PMID: 32470424 DOI: 10.1016/S1474-4422(20)30028-4] [Cited by in Crossref: 14] [Cited by in F6Publishing: 9] [Article Influence: 7.0] [Reference Citation Analysis]
353 Tolusso LK, Collins K, Zhang X, Holle JR, Valencia CA, Myers MF. Pediatric Whole Exome Sequencing: an Assessment of Parents’ Perceived and Actual Understanding. J Genet Counsel 2017;26:792-805. [DOI: 10.1007/s10897-016-0052-9] [Cited by in Crossref: 11] [Cited by in F6Publishing: 10] [Article Influence: 1.8] [Reference Citation Analysis]
354 Parsons DW, Roy A, Yang Y, Wang T, Scollon S, Bergstrom K, Kerstein RA, Gutierrez S, Petersen AK, Bavle A, Lin FY, López-Terrada DH, Monzon FA, Hicks MJ, Eldin KW, Quintanilla NM, Adesina AM, Mohila CA, Whitehead W, Jea A, Vasudevan SA, Nuchtern JG, Ramamurthy U, McGuire AL, Hilsenbeck SG, Reid JG, Muzny DM, Wheeler DA, Berg SL, Chintagumpala MM, Eng CM, Gibbs RA, Plon SE. Diagnostic Yield of Clinical Tumor and Germline Whole-Exome Sequencing for Children With Solid Tumors. JAMA Oncol 2016;2:616-24. [PMID: 26822237 DOI: 10.1001/jamaoncol.2015.5699] [Cited by in Crossref: 214] [Cited by in F6Publishing: 211] [Article Influence: 35.7] [Reference Citation Analysis]
355 Walters ME, Lacassie Y, Azamian M, Franciskovich R, Zapata G, Hernandez PP, Liu P, Campbell IM, Bostwick BL, Lalani SR. Vertical transmission of a large calvarial ossification defect due to heterozygous variants of ALX4 and TWIST1. Am J Med Genet A 2021;185:916-22. [PMID: 33369125 DOI: 10.1002/ajmg.a.62036] [Reference Citation Analysis]
356 Delanne J, Nambot S, Chassagne A, Putois O, Pelissier A, Peyron C, Gautier E, Thevenon J, Cretin E, Bruel AL, Goussot V, Ghiringhelli F, Boidot R, Tran Mau-Them F, Philippe C, Vitobello A, Demougeot L, Vernin C, Lapointe AS, Bardou M, Luu M, Binquet C, Lejeune C, Joly L, Juif C, Baurand A, Sawka C, Bertolone G, Duffourd Y, Sanlaville D, Pujol P, Geneviève D, Houdayer F, Thauvin-Robinet C, Faivre L. Secondary findings from whole-exome/genome sequencing evaluating stakeholder perspectives. A review of the literature. Eur J Med Genet 2019;62:103529. [PMID: 30165243 DOI: 10.1016/j.ejmg.2018.08.010] [Cited by in Crossref: 18] [Cited by in F6Publishing: 18] [Article Influence: 4.5] [Reference Citation Analysis]
357 Finucane B, Myers SM. Genetic Counseling for Autism Spectrum Disorder in an Evolving Theoretical Landscape. Curr Genet Med Rep 2016;4:147-53. [PMID: 27570713 DOI: 10.1007/s40142-016-0099-9] [Cited by in Crossref: 10] [Cited by in F6Publishing: 9] [Article Influence: 1.7] [Reference Citation Analysis]
358 Martínez-Monseny AF, Edo A, Casas-Alba D, Izquierdo-Serra M, Bolasell M, Conejo D, Martorell L, Muchart J, Carrera L, Ortez CI, Nascimento A, Oliva B, Fernández-Fernández JM, Serrano M. CACNA1A Mutations Causing Early Onset Ataxia: Profiling Clinical, Dysmorphic and Structural-Functional Findings. Int J Mol Sci 2021;22:5180. [PMID: 34068417 DOI: 10.3390/ijms22105180] [Reference Citation Analysis]
359 Venner E, Murugan M, Hale W, Jones JM, Lu S, Yi V, Gibbs RA. ARBoR: an identity and security solution for clinical reporting. J Am Med Inform Assoc 2019;26:1370-4. [PMID: 31241152 DOI: 10.1093/jamia/ocz107] [Cited by in Crossref: 1] [Article Influence: 0.3] [Reference Citation Analysis]
360 Oláhová M, Yoon WH, Thompson K, Jangam S, Fernandez L, Davidson JM, Kyle JE, Grove ME, Fisk DG, Kohler JN, Holmes M, Dries AM, Huang Y, Zhao C, Contrepois K, Zappala Z, Frésard L, Waggott D, Zink EM, Kim YM, Heyman HM, Stratton KG, Webb-Robertson BM, Snyder M, Merker JD, Montgomery SB, Fisher PG, Feichtinger RG, Mayr JA, Hall J, Barbosa IA, Simpson MA, Deshpande C, Waters KM, Koeller DM, Metz TO, Morris AA, Schelley S, Cowan T, Friederich MW, McFarland R, Van Hove JLK, Enns GM, Yamamoto S, Ashley EA, Wangler MF, Taylor RW, Bellen HJ, Bernstein JA, Wheeler MT; Undiagnosed Diseases Network. Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder. Am J Hum Genet 2018;102:494-504. [PMID: 29478781 DOI: 10.1016/j.ajhg.2018.01.020] [Cited by in Crossref: 34] [Cited by in F6Publishing: 34] [Article Influence: 8.5] [Reference Citation Analysis]
361 Medina-Martinez O, Haller M, Rosenfeld JA, O'Neill MA, Lamb DJ, Jamrich M. The transcription factor Maz is essential for normal eye development. Dis Model Mech 2020;13:dmm044412. [PMID: 32571845 DOI: 10.1242/dmm.044412] [Cited by in Crossref: 2] [Cited by in F6Publishing: 1] [Article Influence: 1.0] [Reference Citation Analysis]
362 Sawyer SL, Hartley T, Dyment DA, Beaulieu CL, Schwartzentruber J, Smith A, Bedford HM, Bernard G, Bernier FP, Brais B, Bulman DE, Warman Chardon J, Chitayat D, Deladoëy J, Fernandez BA, Frosk P, Geraghty MT, Gerull B, Gibson W, Gow RM, Graham GE, Green JS, Heon E, Horvath G, Innes AM, Jabado N, Kim RH, Koenekoop RK, Khan A, Lehmann OJ, Mendoza-Londono R, Michaud JL, Nikkel SM, Penney LS, Polychronakos C, Richer J, Rouleau GA, Samuels ME, Siu VM, Suchowersky O, Tarnopolsky MA, Yoon G, Zahir FR, Majewski J, Boycott KM; FORGE Canada Consortium., Care4Rare Canada Consortium. Utility of whole-exome sequencing for those near the end of the diagnostic odyssey: time to address gaps in care. Clin Genet 2016;89:275-84. [PMID: 26283276 DOI: 10.1111/cge.12654] [Cited by in Crossref: 212] [Cited by in F6Publishing: 189] [Article Influence: 30.3] [Reference Citation Analysis]
363 Touma L, Labrecque M, Tetreault M, Duquette A. Identification and Classification of Rare Variants in NPC1 and NPC2 in Quebec. Sci Rep 2021;11:10344. [PMID: 33990640 DOI: 10.1038/s41598-021-89630-5] [Reference Citation Analysis]
364 Krawitz P, Buske O, Zhu N, Brudno M, Robinson PN. The genomic birthday paradox: how much is enough? Hum Mutat 2015;36:989-97. [PMID: 26239817 DOI: 10.1002/humu.22848] [Cited by in Crossref: 10] [Cited by in F6Publishing: 8] [Article Influence: 1.4] [Reference Citation Analysis]
365 Fung JLF, Yu MHC, Huang S, Chung CCY, Chan MCY, Pajusalu S, Mak CCY, Hui VCC, Tsang MHY, Yeung KS, Lek M, Chung BHY. A three-year follow-up study evaluating clinical utility of exome sequencing and diagnostic potential of reanalysis. NPJ Genom Med 2020;5:37. [PMID: 32963807 DOI: 10.1038/s41525-020-00144-x] [Cited by in Crossref: 8] [Cited by in F6Publishing: 8] [Article Influence: 4.0] [Reference Citation Analysis]
366 Wilkins-Haug L. Genetic innovations and our understanding of stillbirth. Hum Genet 2020;139:1161-72. [PMID: 32318853 DOI: 10.1007/s00439-020-02146-2] [Cited by in Crossref: 4] [Cited by in F6Publishing: 4] [Article Influence: 2.0] [Reference Citation Analysis]
367 Ameur A, Kloosterman WP, Hestand MS. Single-Molecule Sequencing: Towards Clinical Applications. Trends in Biotechnology 2019;37:72-85. [DOI: 10.1016/j.tibtech.2018.07.013] [Cited by in Crossref: 84] [Cited by in F6Publishing: 68] [Article Influence: 28.0] [Reference Citation Analysis]
368 Johnston J, Lantos JD, Goldenberg A, Chen F, Parens E, Koenig BA; members of the NSIGHT Ethics and Policy Advisory Board. Sequencing Newborns: A Call for Nuanced Use of Genomic Technologies. Hastings Cent Rep 2018;48 Suppl 2:S2-6. [PMID: 30133723 DOI: 10.1002/hast.874] [Cited by in Crossref: 31] [Cited by in F6Publishing: 29] [Article Influence: 10.3] [Reference Citation Analysis]
369 Lubitz SA, Ellinor PT. Next-generation sequencing for the diagnosis of cardiac arrhythmia syndromes. Heart Rhythm 2015;12:1062-70. [PMID: 25625719 DOI: 10.1016/j.hrthm.2015.01.011] [Cited by in Crossref: 24] [Cited by in F6Publishing: 19] [Article Influence: 3.4] [Reference Citation Analysis]
370 Ruiz-García R, Vargas-Hernández A, Chinn IK, Angelo LS, Cao TN, Coban-Akdemir Z, Jhangiani SN, Meng Q, Forbes LR, Muzny DM, Allende LM, Ehlayel MS, Gibbs RA, Lupski JR, Uzel G, Orange JS, Mace EM. Mutations in PI3K110δ cause impaired natural killer cell function partially rescued by rapamycin treatment. J Allergy Clin Immunol 2018;142:605-617.e7. [PMID: 29330011 DOI: 10.1016/j.jaci.2017.11.042] [Cited by in Crossref: 27] [Cited by in F6Publishing: 24] [Article Influence: 6.8] [Reference Citation Analysis]
371 Wang J, Al-Ouran R, Hu Y, Kim SY, Wan YW, Wangler MF, Yamamoto S, Chao HT, Comjean A, Mohr SE, Perrimon N, Liu Z, Bellen HJ; UDN. MARRVEL: Integration of Human and Model Organism Genetic Resources to Facilitate Functional Annotation of the Human Genome. Am J Hum Genet 2017;100:843-53. [PMID: 28502612 DOI: 10.1016/j.ajhg.2017.04.010] [Cited by in Crossref: 99] [Cited by in F6Publishing: 80] [Article Influence: 19.8] [Reference Citation Analysis]
372 Murray MF. Your DNA is not your diagnosis: getting diagnoses right following secondary genomic findings. Genet Med 2016;18:765-7. [PMID: 26447529 DOI: 10.1038/gim.2015.134] [Cited by in Crossref: 14] [Cited by in F6Publishing: 12] [Article Influence: 2.0] [Reference Citation Analysis]
373 Nambot S, Thevenon J, Kuentz P, Duffourd Y, Tisserant E, Bruel A, Mosca-boidron A, Masurel-paulet A, Lehalle D, Jean-marçais N, Lefebvre M, Vabres P, El Chehadeh-djebbar S, Philippe C, Tran Mau-them F, St-onge J, Jouan T, Chevarin M, Poé C, Carmignac V, Vitobello A, Callier P, Rivière J, Faivre L, Thauvin-robinet C; Orphanomix Physicians' Group. Clinical whole-exome sequencing for the diagnosis of rare disorders with congenital anomalies and/or intellectual disability: substantial interest of prospective annual reanalysis. Genet Med 2018;20:645-54. [DOI: 10.1038/gim.2017.162] [Cited by in Crossref: 80] [Cited by in F6Publishing: 76] [Article Influence: 16.0] [Reference Citation Analysis]
374 Vorstman JAS, Parr JR, Moreno-de-luca D, Anney RJL, Nurnberger Jr JI, Hallmayer JF. Autism genetics: opportunities and challenges for clinical translation. Nat Rev Genet 2017;18:362-76. [DOI: 10.1038/nrg.2017.4] [Cited by in Crossref: 205] [Cited by in F6Publishing: 165] [Article Influence: 41.0] [Reference Citation Analysis]
375 Boothe E, West B, Hendon LG, Kaplan JD, Kirmse B. Asynchronous telemedicine for clinical genetics consultations in the NICU: a single center's solution. J Perinatol 2021. [PMID: 34302053 DOI: 10.1038/s41372-021-01070-1] [Reference Citation Analysis]
376 Barseghyan H, Délot EC, Vilain E. New technologies to uncover the molecular basis of disorders of sex development. Mol Cell Endocrinol 2018;468:60-9. [PMID: 29655603 DOI: 10.1016/j.mce.2018.04.003] [Cited by in Crossref: 15] [Cited by in F6Publishing: 12] [Article Influence: 3.8] [Reference Citation Analysis]
377 Alsultan A, Al-Suliman AM, Aleem A, AlGahtani FH, Alfadhel M. Utilizing Whole-Exome Sequencing to Characterize the Phenotypic Variability of Sickle Cell Disease. Genet Test Mol Biomarkers 2018;22:561-7. [PMID: 30183354 DOI: 10.1089/gtmb.2018.0058] [Cited by in Crossref: 4] [Cited by in F6Publishing: 4] [Article Influence: 1.0] [Reference Citation Analysis]
378 Bruels CC, Li C, Mendoza T, Khan J, Reddy HM, Estrella EA, Ghosh PS, Darras BT, Lidov HGW, Pacak CA, Kunkel LM, Modave F, Draper I, Kang PB. Identification of a pathogenic mutation in ATP2A1 via in silico analysis of exome data for cryptic aberrant splice sites. Mol Genet Genomic Med 2019;7:e552. [PMID: 30688039 DOI: 10.1002/mgg3.552] [Cited by in Crossref: 4] [Cited by in F6Publishing: 3] [Article Influence: 1.3] [Reference Citation Analysis]
379 Prasad A, Sdano MA, Vanzo RJ, Mowery-Rushton PA, Serrano MA, Hensel CH, Wassman ER. Clinical utility of exome sequencing in individuals with large homozygous regions detected by chromosomal microarray analysis. BMC Med Genet 2018;19:46. [PMID: 29554876 DOI: 10.1186/s12881-018-0555-3] [Cited by in Crossref: 11] [Cited by in F6Publishing: 11] [Article Influence: 2.8] [Reference Citation Analysis]
380 Stenton SL, Prokisch H. The Clinical Application of RNA Sequencing in Genetic Diagnosis of Mendelian Disorders. Clin Lab Med 2020;40:121-33. [PMID: 32439064 DOI: 10.1016/j.cll.2020.02.004] [Cited by in Crossref: 1] [Article Influence: 0.5] [Reference Citation Analysis]
381 Beyzaei Z, Geramizadeh B, Karimzadeh S. Diagnosis of hepatic glycogen storage disease patients with overlapping clinical symptoms by massively parallel sequencing: a systematic review of literature. Orphanet J Rare Dis 2020;15:286. [PMID: 33054851 DOI: 10.1186/s13023-020-01573-8] [Cited by in Crossref: 4] [Cited by in F6Publishing: 4] [Article Influence: 2.0] [Reference Citation Analysis]
382 White J, Beck CR, Harel T, Posey JE, Jhangiani SN, Tang S, Farwell KD, Powis Z, Mendelsohn NJ, Baker JA, Pollack L, Mason KJ, Wierenga KJ, Arrington DK, Hall M, Psychogios A, Fairbrother L, Walkiewicz M, Person RE, Niu Z, Zhang J, Rosenfeld JA, Muzny DM, Eng C, Beaudet AL, Lupski JR, Boerwinkle E, Gibbs RA, Yang Y, Xia F, Sutton VR. POGZ truncating alleles cause syndromic intellectual disability. Genome Med 2016;8:3. [PMID: 26739615 DOI: 10.1186/s13073-015-0253-0] [Cited by in Crossref: 45] [Cited by in F6Publishing: 36] [Article Influence: 7.5] [Reference Citation Analysis]
383 Hu Y, Mohassel P, Donkervoort S, Yun P, Bolduc V, Ezzo D, Dastgir J, Marshall JL, Lek M, MacArthur DG, Foley AR, Bönnemann CG. Identification of a Novel Deep Intronic Mutation in CAPN3 Presenting a Promising Target for Therapeutic Splice Modulation. J Neuromuscul Dis 2019;6:475-83. [PMID: 31498126 DOI: 10.3233/JND-190414] [Cited by in Crossref: 2] [Cited by in F6Publishing: 2] [Article Influence: 1.0] [Reference Citation Analysis]
384 Suktitipat B, Sathirareuangchai S, Roothumnong E, Thongnoppakhun W, Wangkiratikant P, Vorasan N, Krittayaphong R, Pithukpakorn M, Boonyapisit W. Molecular investigation by whole exome sequencing revealed a high proportion of pathogenic variants among Thai victims of sudden unexpected death syndrome. PLoS One 2017;12:e0180056. [PMID: 28704380 DOI: 10.1371/journal.pone.0180056] [Cited by in Crossref: 10] [Cited by in F6Publishing: 7] [Article Influence: 2.0] [Reference Citation Analysis]
385 Liu S, Xie L, Yue J, Ma T, Peng C, Qiu B, Yang Z, Yang J. Whole-exome sequencing identifies a novel homozygous frameshift mutation in the PROM1 gene as a causative mutation in two patients with sporadic retinitis pigmentosa. Int J Mol Med 2016;37:1528-34. [PMID: 27082927 DOI: 10.3892/ijmm.2016.2551] [Cited by in Crossref: 8] [Cited by in F6Publishing: 6] [Article Influence: 1.3] [Reference Citation Analysis]
386 Parikh VN, Ashley EA. Next-Generation Sequencing in Cardiovascular Disease: Present Clinical Applications and the Horizon of Precision Medicine. Circulation 2017;135:406-9. [PMID: 28137961 DOI: 10.1161/CIRCULATIONAHA.116.024258] [Cited by in Crossref: 20] [Cited by in F6Publishing: 6] [Article Influence: 5.0] [Reference Citation Analysis]
387 van Karnebeek CDM, Wortmann SB, Tarailo-Graovac M, Langeveld M, Ferreira CR, van de Kamp JM, Hollak CE, Wasserman WW, Waterham HR, Wevers RA, Haack TB, Wanders RJA, Boycott KM. The role of the clinician in the multi-omics era: are you ready? J Inherit Metab Dis 2018;41:571-82. [PMID: 29362952 DOI: 10.1007/s10545-017-0128-1] [Cited by in Crossref: 31] [Cited by in F6Publishing: 24] [Article Influence: 7.8] [Reference Citation Analysis]
388 Pajusalu S, Kahre T, Roomere H, Murumets Ü, Roht L, Simenson K, Reimand T, Õunap K. Large gene panel sequencing in clinical diagnostics-results from 501 consecutive cases. Clin Genet 2018;93:78-83. [PMID: 28378410 DOI: 10.1111/cge.13031] [Cited by in Crossref: 16] [Cited by in F6Publishing: 17] [Article Influence: 3.2] [Reference Citation Analysis]
389 Newey PJ. Clinical genetic testing in endocrinology: Current concepts and contemporary challenges. Clin Endocrinol 2019;91:587-607. [DOI: 10.1111/cen.14053] [Cited by in Crossref: 5] [Cited by in F6Publishing: 4] [Article Influence: 1.7] [Reference Citation Analysis]
390 Alfares A, Alfadhel M, Wani T, Alsahli S, Alluhaydan I, Al Mutairi F, Alothaim A, Albalwi M, Al Subaie L, Alturki S, Al-Twaijri W, Alrifai M, Al-Rumayya A, Alameer S, Faqeeh E, Alasmari A, Alsamman A, Tashkandia S, Alghamdi A, Alhashem A, Tabarki B, AlShahwan S, Hundallah K, Wali S, Al-Hebbi H, Babiker A, Mohamed S, Eyaid W, Zada AAP. A multicenter clinical exome study in unselected cohorts from a consanguineous population of Saudi Arabia demonstrated a high diagnostic yield. Mol Genet Metab 2017;121:91-5. [PMID: 28454995 DOI: 10.1016/j.ymgme.2017.04.002] [Cited by in Crossref: 39] [Cited by in F6Publishing: 30] [Article Influence: 7.8] [Reference Citation Analysis]
391 Karaca E, Harel T, Pehlivan D, Jhangiani SN, Gambin T, Coban Akdemir Z, Gonzaga-Jauregui C, Erdin S, Bayram Y, Campbell IM, Hunter JV, Atik MM, Van Esch H, Yuan B, Wiszniewski W, Isikay S, Yesil G, Yuregir OO, Tug Bozdogan S, Aslan H, Aydin H, Tos T, Aksoy A, De Vivo DC, Jain P, Geckinli BB, Sezer O, Gul D, Durmaz B, Cogulu O, Ozkinay F, Topcu V, Candan S, Cebi AH, Ikbal M, Yilmaz Gulec E, Gezdirici A, Koparir E, Ekici F, Coskun S, Cicek S, Karaer K, Koparir A, Duz MB, Kirat E, Fenercioglu E, Ulucan H, Seven M, Guran T, Elcioglu N, Yildirim MS, Aktas D, Alikaşifoğlu M, Ture M, Yakut T, Overton JD, Yuksel A, Ozen M, Muzny DM, Adams DR, Boerwinkle E, Chung WK, Gibbs RA, Lupski JR. Genes that Affect Brain Structure and Function Identified by Rare Variant Analyses of Mendelian Neurologic Disease. Neuron 2015;88:499-513. [PMID: 26539891 DOI: 10.1016/j.neuron.2015.09.048] [Cited by in Crossref: 138] [Cited by in F6Publishing: 133] [Article Influence: 23.0] [Reference Citation Analysis]
392 Ormond KE, O'daniel JM, Kalia SS. Secondary findings: How did we get here, and where are we going? J Genet Couns 2019;28:326-33. [DOI: 10.1002/jgc4.1098] [Cited by in Crossref: 17] [Cited by in F6Publishing: 14] [Article Influence: 5.7] [Reference Citation Analysis]
393 Kessler MD, Yerges-Armstrong L, Taub MA, Shetty AC, Maloney K, Jeng LJB, Ruczinski I, Levin AM, Williams LK, Beaty TH, Mathias RA, Barnes KC, O'Connor TD; Consortium on Asthma among African-ancestry Populations in the Americas (CAAPA). Challenges and disparities in the application of personalized genomic medicine to populations with African ancestry. Nat Commun 2016;7:12521. [PMID: 27725664 DOI: 10.1038/ncomms12521] [Cited by in Crossref: 45] [Cited by in F6Publishing: 31] [Article Influence: 7.5] [Reference Citation Analysis]
394 Parivesh A, Barseghyan H, Délot E, Vilain E. Translating genomics to the clinical diagnosis of disorders/differences of sex development. Curr Top Dev Biol 2019;134:317-75. [PMID: 30999980 DOI: 10.1016/bs.ctdb.2019.01.005] [Cited by in Crossref: 9] [Cited by in F6Publishing: 8] [Article Influence: 3.0] [Reference Citation Analysis]
395 Bruel AL, Nambot S, Quéré V, Vitobello A, Thevenon J, Assoum M, Moutton S, Houcinat N, Lehalle D, Jean-Marçais N, Chevarin M, Jouan T, Poë C, Callier P, Tisserand E, Philippe C, Them FTM, Duffourd Y, Faivre L, Thauvin-Robinet C; Orphanomix Physician’s Group. Increased diagnostic and new genes identification outcome using research reanalysis of singleton exome sequencing. Eur J Hum Genet 2019;27:1519-31. [PMID: 31231135 DOI: 10.1038/s41431-019-0442-1] [Cited by in Crossref: 12] [Cited by in F6Publishing: 11] [Article Influence: 4.0] [Reference Citation Analysis]
396 Al-Murshedi F, Meftah D, Scott P. Underdiagnoses resulting from variant misinterpretation: Time for systematic reanalysis of whole exome data? Eur J Med Genet 2019;62:39-43. [PMID: 29709712 DOI: 10.1016/j.ejmg.2018.04.016] [Cited by in Crossref: 9] [Cited by in F6Publishing: 7] [Article Influence: 2.3] [Reference Citation Analysis]
397 Hiatt SM, Neu MB, Ramaker RC, Hardigan AA, Prokop JW, Hancarova M, Prchalova D, Havlovicova M, Prchal J, Stranecky V, Yim DKC, Powis Z, Keren B, Nava C, Mignot C, Rio M, Revah-Politi A, Hemati P, Stong N, Iglesias AD, Suchy SF, Willaert R, Wentzensen IM, Wheeler PG, Brick L, Kozenko M, Hurst ACE, Wheless JW, Lacassie Y, Myers RM, Barsh GS, Sedlacek Z, Cooper GM. De novo mutations in the GTP/GDP-binding region of RALA, a RAS-like small GTPase, cause intellectual disability and developmental delay. PLoS Genet 2018;14:e1007671. [PMID: 30500825 DOI: 10.1371/journal.pgen.1007671] [Cited by in Crossref: 6] [Cited by in F6Publishing: 6] [Article Influence: 1.5] [Reference Citation Analysis]
398 Kiyota K, Yoshiura KI, Houbara R, Miyahara H, Korematsu S, Ihara K. Auto-immune disorders in a child with PIK3CD variant and 22q13 deletion. Eur J Med Genet 2018;61:631-3. [PMID: 29673649 DOI: 10.1016/j.ejmg.2018.04.008] [Cited by in Crossref: 4] [Cited by in F6Publishing: 4] [Article Influence: 1.0] [Reference Citation Analysis]
399 Guo W, Nie Y, Yan Z, Zhu X, Wang Y, Guan S, Kuo Y, Zhang W, Zhi X, Wei Y, Yan L, Qiao J. Genetic testing and PGD for unexplained recurrent fetal malformations with MAGEL2 gene mutation. Sci China Life Sci 2019;62:886-94. [PMID: 31152388 DOI: 10.1007/s11427-019-9541-0] [Cited by in Crossref: 3] [Cited by in F6Publishing: 3] [Article Influence: 1.0] [Reference Citation Analysis]
400 Ellingford JM, Campbell C, Barton S, Bhaskar S, Gupta S, Taylor RL, Sergouniotis PI, Horn B, Lamb JA, Michaelides M, Webster AR, Newman WG, Panda B, Ramsden SC, Black GC. Validation of copy number variation analysis for next-generation sequencing diagnostics. Eur J Hum Genet 2017;25:719-24. [PMID: 28378820 DOI: 10.1038/ejhg.2017.42] [Cited by in Crossref: 56] [Cited by in F6Publishing: 50] [Article Influence: 11.2] [Reference Citation Analysis]
401 Kwak SH, Chae J, Choi S, Kim MJ, Choi M, Chae JH, Cho EH, Hwang TJ, Jang SS, Kim JI, Park KS, Bang YJ. Findings of a 1303 Korean whole-exome sequencing study. Exp Mol Med 2017;49:e356. [PMID: 28706299 DOI: 10.1038/emm.2017.142] [Cited by in Crossref: 22] [Cited by in F6Publishing: 20] [Article Influence: 4.4] [Reference Citation Analysis]
402 Yang N, Wu N, Dong S, Zhang L, Zhao Y, Chen W, Du R, Song C, Ren X, Liu J, Pehlivan D, Liu Z, Rao J, Wang C, Zhao S, Breman AM, Xue H, Sun H, Shen J, Zhang S, Posey JE, Xu H, Jin L, Zhang J, Liu P, Sanna-Cherchi S, Qiu G, Wu Z, Lupski JR, Zhang F. Human and mouse studies establish TBX6 in Mendelian CAKUT and as a potential driver of kidney defects associated with the 16p11.2 microdeletion syndrome. Kidney Int 2020;98:1020-30. [PMID: 32450157 DOI: 10.1016/j.kint.2020.04.045] [Cited by in Crossref: 3] [Cited by in F6Publishing: 2] [Article Influence: 1.5] [Reference Citation Analysis]
403 Chen CH, Bournat JC, Wilken N, Rosenfeld JA, Zhang J, Seth A, Jorgez CJ. Variants in ALX4 and their association with genitourinary defects. Andrology 2020;8:1243-55. [PMID: 32385972 DOI: 10.1111/andr.12815] [Reference Citation Analysis]
404 Pagnamenta AT, Howard MF, Wisniewski E, Popitsch N, Knight SJ, Keays DA, Quaghebeur G, Cox H, Cox P, Balla T, Taylor JC, Kini U. Germline recessive mutations in PI4KA are associated with perisylvian polymicrogyria, cerebellar hypoplasia and arthrogryposis. Hum Mol Genet 2015;24:3732-41. [PMID: 25855803 DOI: 10.1093/hmg/ddv117] [Cited by in Crossref: 37] [Cited by in F6Publishing: 33] [Article Influence: 5.3] [Reference Citation Analysis]
405 Kritioti E, Theodosiou A, Parpaite T, Alexandrou A, Nicolaou N, Papaevripidou I, Séjourné N, Coste B, Christophidou-Anastasiadou V, Tanteles GA, Sismani C. Unravelling the genetic causes of multiple malformation syndromes: A whole exome sequencing study of the Cypriot population. PLoS One 2021;16:e0253562. [PMID: 34324503 DOI: 10.1371/journal.pone.0253562] [Reference Citation Analysis]
406 Garone C, Minczuk M, Stenton SL, Prokisch H. Advancing genomic approaches to the molecular diagnosis of mitochondrial disease. Essays in Biochemistry 2018;62:399-408. [DOI: 10.1042/ebc20170110] [Cited by in Crossref: 35] [Cited by in F6Publishing: 19] [Article Influence: 8.8] [Reference Citation Analysis]
407 Charron JG, Hernandez A, Bilinovich SM, Vogt DL, Bedinger LA, Seaver LH, Williams M, Devries S, Campbell DB, Bupp CP, Prokop JW. N-methyl-d-aspartate (NMDA) receptor genetics: The power of paralog homology and protein dynamics in defining dominant genetic variants. Am J Med Genet A 2021. [PMID: 34726335 DOI: 10.1002/ajmg.a.62554] [Reference Citation Analysis]
408 Pagnamenta AT, Murakami Y, Taylor JM, Anzilotti C, Howard MF, Miller V, Johnson DS, Tadros S, Mansour S, Temple IK, Firth R, Rosser E, Harrison RE, Kerr B, Popitsch N, Kinoshita T, Taylor JC, Kini U; DDD Study. Analysis of exome data for 4293 trios suggests GPI-anchor biogenesis defects are a rare cause of developmental disorders. Eur J Hum Genet 2017;25:669-79. [PMID: 28327575 DOI: 10.1038/ejhg.2017.32] [Cited by in Crossref: 44] [Cited by in F6Publishing: 38] [Article Influence: 8.8] [Reference Citation Analysis]
409 Harnish JM, Deal SL, Chao HT, Wangler MF, Yamamoto S. In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila. J Vis Exp 2019. [PMID: 31498321 DOI: 10.3791/59658] [Cited by in Crossref: 10] [Cited by in F6Publishing: 10] [Article Influence: 3.3] [Reference Citation Analysis]
410 Bashamboo A, McElreavey K. The role of next generation sequencing in understanding male and female sexual development: clinical implications. Expert Rev Endocrinol Metab 2016;11:433-43. [PMID: 30058910 DOI: 10.1080/17446651.2016.1220299] [Cited by in Crossref: 3] [Cited by in F6Publishing: 3] [Article Influence: 0.5] [Reference Citation Analysis]
411 Issa MY, Chechlacz Z, Stanley V, George RD, McEvoy-Venneri J, Belandres D, Elbendary HM, Gaber KR, Nabil A, Abdel-Hamid MS, Zaki MS, Gleeson JG. Molecular diagnosis in recessive pediatric neurogenetic disease can help reduce disease recurrence in families. BMC Med Genomics 2020;13:68. [PMID: 32404165 DOI: 10.1186/s12920-020-0714-1] [Cited by in Crossref: 2] [Cited by in F6Publishing: 1] [Article Influence: 1.0] [Reference Citation Analysis]
412 G C C L Cardenas R, D Linhares N, L Ferreira R, Pena SDJ. Mendel,MD: A user-friendly open-source web tool for analyzing WES and WGS in the diagnosis of patients with Mendelian disorders. PLoS Comput Biol 2017;13:e1005520. [PMID: 28594829 DOI: 10.1371/journal.pcbi.1005520] [Cited by in Crossref: 3] [Cited by in F6Publishing: 4] [Article Influence: 0.6] [Reference Citation Analysis]
413 Qi Y, Zheng Y, Li Z, Liu Z, Xiong L. Genetic Studies of Tic Disorders and Tourette Syndrome. Methods Mol Biol 2019;2011:547-71. [PMID: 31273721 DOI: 10.1007/978-1-4939-9554-7_32] [Cited by in Crossref: 9] [Cited by in F6Publishing: 9] [Article Influence: 4.5] [Reference Citation Analysis]
414 Eratne D, Schneider A, Lynch E, Martyn M, Velakoulis D, Fahey M, Kwan P, Leventer R, Rafehi H, Chong B, Stark Z, Lunke S, Phelan DG, O'Keefe M, Siemering K, West K, Sexton A, Jarmolowicz A, Taylor JA, Schultz J, Purvis R, Uebergang E, Chalinor H, Creighton B, Gelfand N, Saks T, Prawer Y, Smagarinsky Y, Pan T, Goranitis I, Ademi Z, Gaff C, Huq A, Walsh M, James PA, Krzesinski EI, Wallis M, Stutterd CA, Bahlo M, Delatycki MB, Berkovic SF. The clinical utility of exome sequencing and extended bioinformatic analyses in adolescents and adults with a broad range of neurological phenotypes: an Australian perspective. J Neurol Sci 2021;420:117260. [PMID: 33310205 DOI: 10.1016/j.jns.2020.117260] [Cited by in Crossref: 2] [Cited by in F6Publishing: 2] [Article Influence: 1.0] [Reference Citation Analysis]
415 Yang H, Douglas G, Monaghan KG, Retterer K, Cho MT, Escobar LF, Tucker ME, Stoler J, Rodan LH, Stein D, Marks W, Enns GM, Platt J, Cox R, Wheeler PG, Crain C, Calhoun A, Tryon R, Richard G, Vitazka P, Chung WK. De novo truncating variants in the AHDC1 gene encoding the AT-hook DNA-binding motif-containing protein 1 are associated with intellectual disability and developmental delay. Cold Spring Harb Mol Case Stud 2015;1:a000562. [PMID: 27148574 DOI: 10.1101/mcs.a000562] [Cited by in Crossref: 15] [Cited by in F6Publishing: 14] [Article Influence: 2.5] [Reference Citation Analysis]
416 Everett JN, Mody RJ, Stoffel EM, Chinnaiyan AM. Incorporating genetic counseling into clinical care for children and adolescents with cancer. Future Oncol 2016;12:883-6. [PMID: 26888175 DOI: 10.2217/fon-2015-0022] [Cited by in Crossref: 6] [Cited by in F6Publishing: 6] [Article Influence: 1.0] [Reference Citation Analysis]
417 Nagappa M, Bindu PS, Sinha S, Mathuranath PS, Taly AB. Exome sequencing in adult neurology practice: Challenges and rewards in a mixed resource setting. Clinical Neurology and Neurosurgery 2018;174:48-56. [DOI: 10.1016/j.clineuro.2018.09.012] [Cited by in Crossref: 5] [Cited by in F6Publishing: 5] [Article Influence: 1.3] [Reference Citation Analysis]
418 Hartley T, Wagner JD, Warman-Chardon J, Tétreault M, Brady L, Baker S, Tarnopolsky M, Bourque PR, Parboosingh JS, Smith C, McInnes B, Innes AM, Bernier F, Curry CJ, Yoon G, Horvath GA, Bareke E, Gillespie M, Majewski J, Bulman DE, Dyment DA, Boycott KM; FORGE Canada Consortium., Care4Rare Canada Consortium. Whole-exome sequencing is a valuable diagnostic tool for inherited peripheral neuropathies: Outcomes from a cohort of 50 families. Clin Genet 2018;93:301-9. [PMID: 28708278 DOI: 10.1111/cge.13101] [Cited by in Crossref: 29] [Cited by in F6Publishing: 30] [Article Influence: 5.8] [Reference Citation Analysis]
419 Eldomery MK, Coban-Akdemir Z, Harel T, Rosenfeld JA, Gambin T, Stray-Pedersen A, Küry S, Mercier S, Lessel D, Denecke J, Wiszniewski W, Penney S, Liu P, Bi W, Lalani SR, Schaaf CP, Wangler MF, Bacino CA, Lewis RA, Potocki L, Graham BH, Belmont JW, Scaglia F, Orange JS, Jhangiani SN, Chiang T, Doddapaneni H, Hu J, Muzny DM, Xia F, Beaudet AL, Boerwinkle E, Eng CM, Plon SE, Sutton VR, Gibbs RA, Posey JE, Yang Y, Lupski JR. Lessons learned from additional research analyses of unsolved clinical exome cases. Genome Med 2017;9:26. [PMID: 28327206 DOI: 10.1186/s13073-017-0412-6] [Cited by in Crossref: 114] [Cited by in F6Publishing: 106] [Article Influence: 22.8] [Reference Citation Analysis]
420 Li Y, Salfelder A, Schwab KO, Grünert SC, Velten T, Lütjohann D, Villavicencio-Lorini P, Matysiak-Scholze U, Zabel B, Köttgen A, Lausch E. Against all odds: blended phenotypes of three single-gene defects. Eur J Hum Genet 2016;24:1274-9. [PMID: 26813946 DOI: 10.1038/ejhg.2015.285] [Cited by in Crossref: 19] [Cited by in F6Publishing: 20] [Article Influence: 3.2] [Reference Citation Analysis]
421 Wynn J, Lewis K, Amendola LM, Bernhardt BA, Biswas S, Joshi M, McMullen C, Scollon S. Clinical providers' experiences with returning results from genomic sequencing: an interview study. BMC Med Genomics 2018;11:45. [PMID: 29739461 DOI: 10.1186/s12920-018-0360-z] [Cited by in Crossref: 34] [Cited by in F6Publishing: 33] [Article Influence: 8.5] [Reference Citation Analysis]
422 Boycott K, Hartley T, Adam S, Bernier F, Chong K, Fernandez BA, Friedman JM, Geraghty MT, Hume S, Knoppers BM, Laberge AM, Majewski J, Mendoza-Londono R, Meyn MS, Michaud JL, Nelson TN, Richer J, Sadikovic B, Skidmore DL, Stockley T, Taylor S, van Karnebeek C, Zawati MH, Lauzon J, Armour CM; Canadian College of Medical Geneticists. The clinical application of genome-wide sequencing for monogenic diseases in Canada: Position Statement of the Canadian College of Medical Geneticists. J Med Genet 2015;52:431-7. [PMID: 25951830 DOI: 10.1136/jmedgenet-2015-103144] [Cited by in Crossref: 120] [Cited by in F6Publishing: 113] [Article Influence: 17.1] [Reference Citation Analysis]
423 Bastos PAD, Barbosa R. The tip of the iceberg for diagnostic dilemmas: Performance of current diagnostics and future complementary screening approaches. Eur J Med Genet 2020;63:104089. [PMID: 33069933 DOI: 10.1016/j.ejmg.2020.104089] [Reference Citation Analysis]
424 García-Acero M, Acosta J. Whole-Exome Sequencing Identifies a de novo AHDC1 Mutation in a Colombian Patient with Xia-Gibbs Syndrome. Mol Syndromol 2017;8:308-12. [PMID: 29230160 DOI: 10.1159/000479357] [Cited by in Crossref: 12] [Cited by in F6Publishing: 11] [Article Influence: 2.4] [Reference Citation Analysis]
425 Splinter K, Adams DR, Bacino CA, Bellen HJ, Bernstein JA, Cheatle-Jarvela AM, Eng CM, Esteves C, Gahl WA, Hamid R, Jacob HJ, Kikani B, Koeller DM, Kohane IS, Lee BH, Loscalzo J, Luo X, McCray AT, Metz TO, Mulvihill JJ, Nelson SF, Palmer CGS, Phillips JA 3rd, Pick L, Postlethwait JH, Reuter C, Shashi V, Sweetser DA, Tifft CJ, Walley NM, Wangler MF, Westerfield M, Wheeler MT, Wise AL, Worthey EA, Yamamoto S, Ashley EA; Undiagnosed Diseases Network. Effect of Genetic Diagnosis on Patients with Previously Undiagnosed Disease. N Engl J Med 2018;379:2131-9. [PMID: 30304647 DOI: 10.1056/NEJMoa1714458] [Cited by in Crossref: 121] [Cited by in F6Publishing: 67] [Article Influence: 30.3] [Reference Citation Analysis]
426 Yamaguchi-Kabata Y, Yasuda J, Tanabe O, Suzuki Y, Kawame H, Fuse N, Nagasaki M, Kawai Y, Kojima K, Katsuoka F, Saito S, Danjoh I, Motoike IN, Yamashita R, Koshiba S, Saigusa D, Tamiya G, Kure S, Yaegashi N, Kawaguchi Y, Nagami F, Kuriyama S, Sugawara J, Minegishi N, Hozawa A, Ogishima S, Kiyomoto H, Takai-Igarashi T, Kinoshita K, Yamamoto M; ToMMo Study Group. Evaluation of reported pathogenic variants and their frequencies in a Japanese population based on a whole-genome reference panel of 2049 individuals. J Hum Genet 2018;63:213-30. [PMID: 29192238 DOI: 10.1038/s10038-017-0347-1] [Cited by in Crossref: 20] [Cited by in F6Publishing: 20] [Article Influence: 4.0] [Reference Citation Analysis]
427 Boycott KM, Dyment DA, Innes AM. Unsolved recognizable patterns of human malformation: Challenges and opportunities. Am J Med Genet C Semin Med Genet 2018;178:382-6. [PMID: 30580485 DOI: 10.1002/ajmg.c.31665] [Cited by in Crossref: 7] [Cited by in F6Publishing: 5] [Article Influence: 2.3] [Reference Citation Analysis]
428 Gonzalez-Mantilla AJ, Moreno-De-Luca A, Ledbetter DH, Martin CL. A Cross-Disorder Method to Identify Novel Candidate Genes for Developmental Brain Disorders. JAMA Psychiatry 2016;73:275-83. [PMID: 26817790 DOI: 10.1001/jamapsychiatry.2015.2692] [Cited by in Crossref: 71] [Cited by in F6Publishing: 55] [Article Influence: 11.8] [Reference Citation Analysis]
429 Bahena P, Daftarian N, Maroofian R, Linares P, Villalobos D, Mirrahimi M, Rad A, Doll J, Hofrichter MAH, Koparir A, Röder T, Han S, Sabbaghi H, Ahmadieh H, Behboudi H, Villanueva-Mendoza C, Cortés-Gonzalez V, Zamora-Ortiz R, Kohl S, Kuehlewein L, Darvish H, Alehabib E, Arenas-Sordo ML, Suri F, Vona B, Haaf T. Unraveling the genetic complexities of combined retinal dystrophy and hearing impairment. Hum Genet 2021. [PMID: 34148116 DOI: 10.1007/s00439-021-02303-1] [Cited by in F6Publishing: 1] [Reference Citation Analysis]
430 Hartin SN, Means JC, Alaimo JT, Younger ST. Expediting rare disease diagnosis: a call to bridge the gap between clinical and functional genomics. Mol Med 2020;26:117. [PMID: 33238891 DOI: 10.1186/s10020-020-00244-5] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 0.5] [Reference Citation Analysis]
431 Wolf SM, Thyagarajan B, Fogel BL. The need to develop a patient-centered precision medicine model for adults with chronic disability. Expert Rev Mol Diagn 2017;17:415-8. [PMID: 28325089 DOI: 10.1080/14737159.2017.1309976] [Cited by in Crossref: 5] [Cited by in F6Publishing: 4] [Article Influence: 1.0] [Reference Citation Analysis]
432 Papadimitriou S, Gazzo A, Versbraegen N, Nachtegael C, Aerts J, Moreau Y, Van Dooren S, Nowé A, Smits G, Lenaerts T. Predicting disease-causing variant combinations. Proc Natl Acad Sci U S A 2019;116:11878-87. [PMID: 31127050 DOI: 10.1073/pnas.1815601116] [Cited by in Crossref: 10] [Cited by in F6Publishing: 18] [Article Influence: 3.3] [Reference Citation Analysis]
433 Shirts BH, Pritchard CC, Walsh T. Family-Specific Variants and the Limits of Human Genetics. Trends Mol Med 2016;22:925-34. [PMID: 27742414 DOI: 10.1016/j.molmed.2016.09.007] [Cited by in Crossref: 18] [Cited by in F6Publishing: 13] [Article Influence: 3.0] [Reference Citation Analysis]
434 Mullegama SV, Jensik P, Li C, Dorrani N, Kantarci S, Blumberg B, Grody WW, Strom SP; UCLA Clinical Genomics Center. Coupling clinical exome sequencing with functional characterization studies to diagnose a patient with familial Mediterranean fever and MED13L haploinsufficiency syndromes. Clin Case Rep 2017;5:833-40. [PMID: 28588821 DOI: 10.1002/ccr3.904] [Cited by in Crossref: 3] [Cited by in F6Publishing: 2] [Article Influence: 0.6] [Reference Citation Analysis]
435 Veltman JA, Lupski JR. From genes to genomes in the clinic. Genome Med 2015;7:78. [PMID: 26221187 DOI: 10.1186/s13073-015-0200-0] [Cited by in Crossref: 12] [Cited by in F6Publishing: 10] [Article Influence: 1.7] [Reference Citation Analysis]
436 Schmidlen T, Schwartz M, DiLoreto K, Kirchner HL, Sturm AC. Patient assessment of chatbots for the scalable delivery of genetic counseling. J Genet Couns 2019;28:1166-77. [PMID: 31549758 DOI: 10.1002/jgc4.1169] [Cited by in Crossref: 38] [Cited by in F6Publishing: 27] [Article Influence: 12.7] [Reference Citation Analysis]
437 Borch LA, Parboosingh J, Thomas MA, Veale P. Re-evaluating the first-tier status of fragile X testing in neurodevelopmental disorders. Genet Med 2020;22:1036-9. [PMID: 32152462 DOI: 10.1038/s41436-020-0773-x] [Cited by in Crossref: 8] [Cited by in F6Publishing: 7] [Article Influence: 4.0] [Reference Citation Analysis]
438 Rosenfeld JA, Xiao R, Bekheirnia MR, Kanani F, Parker MJ, Koenig MK, van Haeringen A, Ruivenkamp C, Rosmaninho-Salgado J, Almeida PM, Sá J, Pinto Basto J, Palen E, Oetjens KF, Burrage LC, Xia F, Liu P, Eng CM, Yang Y, Posey JE, Lee BH; Undiagnosed Diseases Network. Heterozygous variants in SPTBN1 cause intellectual disability and autism. Am J Med Genet A 2021;185:2037-45. [PMID: 33847457 DOI: 10.1002/ajmg.a.62201] [Reference Citation Analysis]
439 Prokop JW, May T, Strong K, Bilinovich SM, Bupp C, Rajasekaran S, Worthey EA, Lazar J. Genome sequencing in the clinic: the past, present, and future of genomic medicine. Physiol Genomics. 2018;50:563-579. [PMID: 29727589 DOI: 10.1152/physiolgenomics.00046.2018] [Cited by in Crossref: 26] [Cited by in F6Publishing: 19] [Article Influence: 6.5] [Reference Citation Analysis]
440 Daum H, Meiner V, Elpeleg O, Harel T; collaborating authors. Fetal exome sequencing: yield and limitations in a tertiary referral center. Ultrasound Obstet Gynecol 2019;53:80-6. [PMID: 29947050 DOI: 10.1002/uog.19168] [Cited by in Crossref: 22] [Cited by in F6Publishing: 21] [Article Influence: 7.3] [Reference Citation Analysis]
441 Schwarze K, Buchanan J, Taylor JC, Wordsworth S. Are whole-exome and whole-genome sequencing approaches cost-effective? A systematic review of the literature. Genet Med 2018;20:1122-30. [PMID: 29446766 DOI: 10.1038/gim.2017.247] [Cited by in Crossref: 197] [Cited by in F6Publishing: 171] [Article Influence: 49.3] [Reference Citation Analysis]
442 Wang J, Wang Z, An Y, Wu C, Xu Y, Fu Q, Shen Y, Zhang Q. Exome sequencing reveals a novel PTHLH mutation in a Chinese pedigree with brachydactyly type E and short stature. Clin Chim Acta 2015;446:9-14. [PMID: 25801215 DOI: 10.1016/j.cca.2015.03.019] [Cited by in Crossref: 18] [Cited by in F6Publishing: 13] [Article Influence: 2.6] [Reference Citation Analysis]
443 Gaither JBS, Lammi GE, Li JL, Gordon DM, Kuck HC, Kelly BJ, Fitch JR, White P. Synonymous variants that disrupt messenger RNA structure are significantly constrained in the human population. Gigascience 2021;10:giab023. [PMID: 33822938 DOI: 10.1093/gigascience/giab023] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 1.0] [Reference Citation Analysis]
444 Caskey JR, Wiseman RW, Karl JA, Baker DA, Lee T, Maddox RJ, Raveendran M, Harris RA, Hu J, Muzny DM, Rogers J, O'Connor DH. MHC genotyping from rhesus macaque exome sequences. Immunogenetics 2019;71:531-44. [PMID: 31321455 DOI: 10.1007/s00251-019-01125-w] [Cited by in Crossref: 8] [Cited by in F6Publishing: 6] [Article Influence: 2.7] [Reference Citation Analysis]
445 Grochowski CM, Krepischi ACV, Eisfeldt J, Du H, Bertola DR, Oliveira D, Costa SS, Lupski JR, Lindstrand A, Carvalho CMB. Chromoanagenesis Event Underlies a de novo Pericentric and Multiple Paracentric Inversions in a Single Chromosome Causing Coffin-Siris Syndrome. Front Genet 2021;12:708348. [PMID: 34512724 DOI: 10.3389/fgene.2021.708348] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 1.0] [Reference Citation Analysis]
446 Mueller T, Jerrentrup A, Bauer MJ, Fritsch HW, Schaefer JR. Characteristics of patients contacting a center for undiagnosed and rare diseases. Orphanet J Rare Dis 2016;11:81. [PMID: 27328799 DOI: 10.1186/s13023-016-0467-2] [Cited by in Crossref: 7] [Cited by in F6Publishing: 3] [Article Influence: 1.2] [Reference Citation Analysis]
447 Schoch K, Meng L, Szelinger S, Bearden DR, Stray-Pedersen A, Busk OL, Stong N, Liston E, Cohn RD, Scaglia F, Rosenfeld JA, Tarpinian J, Skraban CM, Deardorff MA, Friedman JN, Akdemir ZC, Walley N, Mikati MA, Kranz PG, Jasien J, McConkie-Rosell A, McDonald M, Wechsler SB, Freemark M, Kansagra S, Freedman S, Bali D, Millan F, Bale S, Nelson SF, Lee H, Dorrani N, Goldstein DB, Xiao R, Yang Y, Posey JE, Martinez-Agosto JA, Lupski JR, Wangler MF, Shashi V; UCLA Clinical Genomics Center., Undiagnosed Diseases Network. A Recurrent De Novo Variant in NACC1 Causes a Syndrome Characterized by Infantile Epilepsy, Cataracts, and Profound Developmental Delay. Am J Hum Genet 2017;100:343-51. [PMID: 28132692 DOI: 10.1016/j.ajhg.2016.12.013] [Cited by in Crossref: 23] [Cited by in F6Publishing: 19] [Article Influence: 4.6] [Reference Citation Analysis]
448 Seo GH, Kim T, Choi IH, Park JY, Lee J, Kim S, Won DG, Oh A, Lee Y, Choi J, Lee H, Kang HG, Cho HY, Cho MH, Kim YJ, Yoon YH, Eun BL, Desnick RJ, Keum C, Lee BH. Diagnostic yield and clinical utility of whole exome sequencing using an automated variant prioritization system, EVIDENCE. Clin Genet 2020;98:562-70. [PMID: 32901917 DOI: 10.1111/cge.13848] [Cited by in Crossref: 10] [Cited by in F6Publishing: 6] [Article Influence: 5.0] [Reference Citation Analysis]
449 Lord J, McMullan DJ, Eberhardt RY, Rinck G, Hamilton SJ, Quinlan-Jones E, Prigmore E, Keelagher R, Best SK, Carey GK, Mellis R, Robart S, Berry IR, Chandler KE, Cilliers D, Cresswell L, Edwards SL, Gardiner C, Henderson A, Holden ST, Homfray T, Lester T, Lewis RA, Newbury-Ecob R, Prescott K, Quarrell OW, Ramsden SC, Roberts E, Tapon D, Tooley MJ, Vasudevan PC, Weber AP, Wellesley DG, Westwood P, White H, Parker M, Williams D, Jenkins L, Scott RH, Kilby MD, Chitty LS, Hurles ME, Maher ER; Prenatal Assessment of Genomes and Exomes Consortium. Prenatal exome sequencing analysis in fetal structural anomalies detected by ultrasonography (PAGE): a cohort study. Lancet 2019;393:747-57. [PMID: 30712880 DOI: 10.1016/S0140-6736(18)31940-8] [Cited by in Crossref: 182] [Cited by in F6Publishing: 62] [Article Influence: 60.7] [Reference Citation Analysis]
450 Ramirez-Montaño D, Pachajoa H. Wiedemann-Steiner syndrome with a novel pathogenic variant in KMT2A: a case report. Colomb Med (Cali) 2019;50:40-5. [PMID: 31168168 DOI: 10.25100/cm.v50i1.3555] [Cited by in Crossref: 6] [Cited by in F6Publishing: 5] [Article Influence: 2.0] [Reference Citation Analysis]
451 Joshi C, Kolbe DL, Mansilla MA, Mason SO, Smith RJ, Campbell CA. Reducing the Cost of the Diagnostic Odyssey in Early Onset Epileptic Encephalopathies. Biomed Res Int 2016;2016:6421039. [PMID: 27243033 DOI: 10.1155/2016/6421039] [Cited by in Crossref: 30] [Cited by in F6Publishing: 30] [Article Influence: 5.0] [Reference Citation Analysis]
452 Zhong Y, Xu F, Wu J, Schubert J, Li MM. Application of Next Generation Sequencing in Laboratory Medicine. Ann Lab Med 2021;41:25-43. [PMID: 32829577 DOI: 10.3343/alm.2021.41.1.25] [Cited by in Crossref: 8] [Cited by in F6Publishing: 8] [Article Influence: 4.0] [Reference Citation Analysis]
453 Stavropoulos DJ, Merico D, Jobling R, Bowdin S, Monfared N, Thiruvahindrapuram B, Nalpathamkalam T, Pellecchia G, Yuen RKC, Szego MJ, Hayeems RZ, Shaul RZ, Brudno M, Girdea M, Frey B, Alipanahi B, Ahmed S, Babul-Hirji R, Porras RB, Carter MT, Chad L, Chaudhry A, Chitayat D, Doust SJ, Cytrynbaum C, Dupuis L, Ejaz R, Fishman L, Guerin A, Hashemi B, Helal M, Hewson S, Inbar-Feigenberg M, Kannu P, Karp N, Kim R, Kronick J, Liston E, MacDonald H, Mercimek-Mahmutoglu S, Mendoza-Londono R, Nasr E, Nimmo G, Parkinson N, Quercia N, Raiman J, Roifman M, Schulze A, Shugar A, Shuman C, Sinajon P, Siriwardena K, Weksberg R, Yoon G, Carew C, Erickson R, Leach RA, Klein R, Ray PN, Meyn MS, Scherer SW, Cohn RD, Marshall CR. Whole Genome Sequencing Expands Diagnostic Utility and Improves Clinical Management in Pediatric Medicine. NPJ Genom Med 2016;1:15012. [PMID: 28567303 DOI: 10.1038/npjgenmed.2015.12] [Cited by in Crossref: 177] [Cited by in F6Publishing: 155] [Article Influence: 29.5] [Reference Citation Analysis]
454 Xue H, Peng J, Shang X. Predicting disease-related phenotypes using an integrated phenotype similarity measurement based on HPO. BMC Syst Biol 2019;13:34. [PMID: 30953559 DOI: 10.1186/s12918-019-0697-8] [Cited by in Crossref: 6] [Cited by in F6Publishing: 4] [Article Influence: 2.0] [Reference Citation Analysis]
455 Anazi S, Maddirevula S, Faqeih E, Alsedairy H, Alzahrani F, Shamseldin HE, Patel N, Hashem M, Ibrahim N, Abdulwahab F, Ewida N, Alsaif HS, Al Sharif H, Alamoudi W, Kentab A, Bashiri FA, Alnaser M, AlWadei AH, Alfadhel M, Eyaid W, Hashem A, Al Asmari A, Saleh MM, AlSaman A, Alhasan KA, Alsughayir M, Al Shammari M, Mahmoud A, Al-Hassnan ZN, Al-Husain M, Osama Khalil R, Abd El Meguid N, Masri A, Ali R, Ben-Omran T, El Fishway P, Hashish A, Ercan Sencicek A, State M, Alazami AM, Salih MA, Altassan N, Arold ST, Abouelhoda M, Wakil SM, Monies D, Shaheen R, Alkuraya FS. Clinical genomics expands the morbid genome of intellectual disability and offers a high diagnostic yield. Mol Psychiatry 2017;22:615-24. [PMID: 27431290 DOI: 10.1038/mp.2016.113] [Cited by in Crossref: 120] [Cited by in F6Publishing: 105] [Article Influence: 20.0] [Reference Citation Analysis]
456 Vissers LE, Veltman JA. Standardized phenotyping enhances Mendelian disease gene identification. Nat Genet 2015;47:1222-4. [PMID: 26506899 DOI: 10.1038/ng.3425] [Cited by in Crossref: 11] [Cited by in F6Publishing: 8] [Article Influence: 1.8] [Reference Citation Analysis]
457 Chinn IK, Sanders RP, Stray-Pedersen A, Coban-Akdemir ZH, Kim VH, Dadi H, Roifman CM, Quigg T, Lupski JR, Orange JS, Hanson IC. Novel Combined Immune Deficiency and Radiation Sensitivity Blended Phenotype in an Adult with Biallelic Variations in ZAP70 and RNF168. Front Immunol 2017;8:576. [PMID: 28603521 DOI: 10.3389/fimmu.2017.00576] [Cited by in Crossref: 12] [Cited by in F6Publishing: 9] [Article Influence: 2.4] [Reference Citation Analysis]
458 Akle S, Chun S, Jordan DM, Cassa CA. Mitigating false-positive associations in rare disease gene discovery. Hum Mutat 2015;36:998-1003. [PMID: 26378430 DOI: 10.1002/humu.22847] [Cited by in Crossref: 14] [Cited by in F6Publishing: 10] [Article Influence: 2.3] [Reference Citation Analysis]
459 Stenton SL, Kremer LS, Kopajtich R, Ludwig C, Prokisch H. The diagnosis of inborn errors of metabolism by an integrative “multi‐omics” approach: A perspective encompassing genomics, transcriptomics, and proteomics. Jrnl of Inher Metab Disea 2020;43:25-35. [DOI: 10.1002/jimd.12130] [Cited by in Crossref: 16] [Cited by in F6Publishing: 16] [Article Influence: 5.3] [Reference Citation Analysis]
460 Tabor HK, Jamal SM, Yu JH, Crouch JM, Shankar AG, Dent KM, Anderson N, Miller DA, Futral BT, Bamshad MJ. My46: a Web-based tool for self-guided management of genomic test results in research and clinical settings. Genet Med 2017;19:467-75. [PMID: 27632689 DOI: 10.1038/gim.2016.133] [Cited by in Crossref: 22] [Cited by in F6Publishing: 18] [Article Influence: 3.7] [Reference Citation Analysis]
461 Stapleton M, Arunkumar N, Kubaski F, Mason RW, Tadao O, Tomatsu S. Clinical presentation and diagnosis of mucopolysaccharidoses. Mol Genet Metab 2018;125:4-17. [PMID: 30057281 DOI: 10.1016/j.ymgme.2018.01.003] [Cited by in Crossref: 30] [Cited by in F6Publishing: 21] [Article Influence: 7.5] [Reference Citation Analysis]
462 Hiatt SM, Amaral MD, Bowling KM, Finnila CR, Thompson ML, Gray DE, Lawlor JMJ, Cochran JN, Bebin EM, Brothers KB, East KM, Kelley WV, Lamb NE, Levy SE, Lose EJ, Neu MB, Rich CA, Simmons S, Myers RM, Barsh GS, Cooper GM. Systematic reanalysis of genomic data improves quality of variant interpretation. Clin Genet 2018;94:174-8. [PMID: 29652076 DOI: 10.1111/cge.13259] [Cited by in Crossref: 16] [Cited by in F6Publishing: 15] [Article Influence: 4.0] [Reference Citation Analysis]
463 Wangler MF, Yamamoto S, Chao HT, Posey JE, Westerfield M, Postlethwait J, Hieter P, Boycott KM, Campeau PM, Bellen HJ; Members of the Undiagnosed Diseases Network (UDN). Model Organisms Facilitate Rare Disease Diagnosis and Therapeutic Research. Genetics 2017;207:9-27. [PMID: 28874452 DOI: 10.1534/genetics.117.203067] [Cited by in Crossref: 100] [Cited by in F6Publishing: 78] [Article Influence: 20.0] [Reference Citation Analysis]
464 Bossi G, Errichiello E, Zuffardi O, Marone P, Monzillo V, Barbarini D, Vergori A, Bassi LA, Rispoli GA, De Amici M, Zecca M. Disseminated Mycobacterium Avium Infection in a Child with Complete Interferon-γ Receptor 1 Deficiency due to Compound Heterozygosis of IFNGR1 for a Subpolymorphic Copy Number Variation and a Novel Splice-Site Variant. J Pediatr Genet 2020;9:186-92. [PMID: 32714620 DOI: 10.1055/s-0039-1700803] [Cited by in Crossref: 2] [Cited by in F6Publishing: 2] [Article Influence: 0.7] [Reference Citation Analysis]
465 Giudicessi JR, Kullo IJ, Ackerman MJ. Precision Cardiovascular Medicine: State of Genetic Testing. Mayo Clin Proc 2017;92:642-62. [PMID: 28385198 DOI: 10.1016/j.mayocp.2017.01.015] [Cited by in Crossref: 39] [Cited by in F6Publishing: 32] [Article Influence: 7.8] [Reference Citation Analysis]
466 Kingsmore SF, Henderson A, Owen MJ, Clark MM, Hansen C, Dimmock D, Chambers CD, Jeliffe-Pawlowski LL, Hobbs C. Measurement of genetic diseases as a cause of mortality in infants receiving whole genome sequencing. NPJ Genom Med 2020;5:49. [PMID: 33154820 DOI: 10.1038/s41525-020-00155-8] [Cited by in Crossref: 3] [Cited by in F6Publishing: 2] [Article Influence: 1.5] [Reference Citation Analysis]
467 de Bruin C, Dauber A. Insights from exome sequencing for endocrine disorders. Nat Rev Endocrinol 2015;11:455-64. [PMID: 25963271 DOI: 10.1038/nrendo.2015.72] [Cited by in Crossref: 24] [Cited by in F6Publishing: 20] [Article Influence: 3.4] [Reference Citation Analysis]
468 Lee BH, Reijnders MRF, Abubakare O, Tuttle E, Lape B, Minks KQ, Stodgell C, Bennetto L, Kwon J, Fong CT, Gripp KW, Marsh ED, Smith WE, Huq AM, Coury SA, Tan WH, Solis O, Mehta RI, Leventer RJ, Baralle D, Hunt D, Paciorkowski AR. Expanding the neurodevelopmental phenotype of PURA syndrome. Am J Med Genet A 2018;176:56-67. [PMID: 29150892 DOI: 10.1002/ajmg.a.38521] [Cited by in Crossref: 10] [Cited by in F6Publishing: 9] [Article Influence: 2.0] [Reference Citation Analysis]
469 Liu J, Wu N, Yang N, Takeda K, Chen W, Li W, Du R, Liu S, Zhou Y, Zhang L, Liu Z, Zuo Y, Zhao S, Blank R, Pehlivan D, Dong S, Zhang J, Shen J, Si N, Wang Y, Liu G, Li S, Zhao Y, Zhao H, Chen Y, Zhao Y, Song X, Hu J, Lin M, Tian Y, Yuan B, Yu K, Niu Y, Yu B, Li X, Chen J, Yan Z, Zhu Q, Meng X, Chen X, Su J, Zhao X, Wang X, Ming Y, Li X, Raggio CL, Zhang B, Weng X, Zhang S, Zhang X, Watanabe K, Matsumoto M, Jin L, Shen Y, Sobreira NL, Posey JE, Giampietro PF, Valle D, Liu P, Wu Z, Ikegawa S, Lupski JR, Zhang F, Qiu G; Deciphering Disorders Involving Scoliosis and COmorbidities (DISCO) study., Japan Early Onset Scoliosis Research Group., Baylor-Hopkins Center for Mendelian Genomics. TBX6-associated congenital scoliosis (TACS) as a clinically distinguishable subtype of congenital scoliosis: further evidence supporting the compound inheritance and TBX6 gene dosage model. Genet Med 2019;21:1548-58. [PMID: 30636772 DOI: 10.1038/s41436-018-0377-x] [Cited by in Crossref: 30] [Cited by in F6Publishing: 26] [Article Influence: 10.0] [Reference Citation Analysis]
470 Smith ED, Blanco K, Sajan SA, Hunter JM, Shinde DN, Wayburn B, Rossi M, Huang J, Stevens CA, Muss C, Alcaraz W, Hagman KDF, Tang S, Radtke K. A retrospective review of multiple findings in diagnostic exome sequencing: half are distinct and half are overlapping diagnoses. Genet Med 2019;21:2199-207. [PMID: 30894705 DOI: 10.1038/s41436-019-0477-2] [Cited by in Crossref: 20] [Cited by in F6Publishing: 14] [Article Influence: 6.7] [Reference Citation Analysis]
471 Best S, Wou K, Vora N, Van der Veyver IB, Wapner R, Chitty LS. Promises, pitfalls and practicalities of prenatal whole exome sequencing. Prenat Diagn 2018;38:10-9. [PMID: 28654730 DOI: 10.1002/pd.5102] [Cited by in Crossref: 145] [Cited by in F6Publishing: 124] [Article Influence: 29.0] [Reference Citation Analysis]
472 Sadat R, Emrick L. Genetic Testing and Counseling and Child Neurology. Neurol Clin 2021;39:705-17. [PMID: 34215382 DOI: 10.1016/j.ncl.2021.05.003] [Reference Citation Analysis]
473 Reid ES, Papandreou A, Drury S, Boustred C, Yue WW, Wedatilake Y, Beesley C, Jacques TS, Anderson G, Abulhoul L, Broomfield A, Cleary M, Grunewald S, Varadkar SM, Lench N, Rahman S, Gissen P, Clayton PT, Mills PB. Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. Brain 2016;139:2844-54. [PMID: 27604308 DOI: 10.1093/brain/aww221] [Cited by in Crossref: 22] [Cited by in F6Publishing: 19] [Article Influence: 4.4] [Reference Citation Analysis]
474 Bassett AS, Lowther C, Merico D, Costain G, Chow EWC, van Amelsvoort T, McDonald-McGinn D, Gur RE, Swillen A, Van den Bree M, Murphy K, Gothelf D, Bearden CE, Eliez S, Kates W, Philip N, Sashi V, Campbell L, Vorstman J, Cubells J, Repetto GM, Simon T, Boot E, Heung T, Evers R, Vingerhoets C, van Duin E, Zackai E, Vergaelen E, Devriendt K, Vermeesch JR, Owen M, Murphy C, Michaelovosky E, Kushan L, Schneider M, Fremont W, Busa T, Hooper S, McCabe K, Duijff S, Isaev K, Pellecchia G, Wei J, Gazzellone MJ, Scherer SW, Emanuel BS, Guo T, Morrow BE, Marshall CR; International 22q11.2DS Brain and Behavior Consortium. Rare Genome-Wide Copy Number Variation and Expression of Schizophrenia in 22q11.2 Deletion Syndrome. Am J Psychiatry 2017;174:1054-63. [PMID: 28750581 DOI: 10.1176/appi.ajp.2017.16121417] [Cited by in Crossref: 49] [Cited by in F6Publishing: 39] [Article Influence: 9.8] [Reference Citation Analysis]
475 Wang J, Xiang J, Chen L, Luo H, Xu X, Li N, Cui C, Xu J, Song N, Peng J, Peng Z. Molecular diagnosis of non-syndromic hearing loss patients using a stepwise approach. Sci Rep 2021;11:4036. [PMID: 33597575 DOI: 10.1038/s41598-021-83493-6] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 1.0] [Reference Citation Analysis]
476 Ross JP, Dion PA, Rouleau GA. Exome sequencing in genetic disease: recent advances and considerations. F1000Res 2020;9:F1000 Faculty Rev-336. [PMID: 32431803 DOI: 10.12688/f1000research.19444.1] [Cited by in Crossref: 5] [Cited by in F6Publishing: 4] [Article Influence: 2.5] [Reference Citation Analysis]
477 Daoud H, Luco SM, Li R, Bareke E, Beaulieu C, Jarinova O, Carson N, Nikkel SM, Graham GE, Richer J, Armour C, Bulman DE, Chakraborty P, Geraghty M, Lines MA, Lacaze-Masmonteil T, Majewski J, Boycott KM, Dyment DA. Next-generation sequencing for diagnosis of rare diseases in the neonatal intensive care unit. CMAJ 2016;188:E254-60. [PMID: 27241786 DOI: 10.1503/cmaj.150823] [Cited by in Crossref: 52] [Cited by in F6Publishing: 49] [Article Influence: 8.7] [Reference Citation Analysis]
478 Halverson CM, Clift KE, McCormick JB. Was it worth it? Patients' perspectives on the perceived value of genomic-based individualized medicine. J Community Genet 2016;7:145-52. [PMID: 26860291 DOI: 10.1007/s12687-016-0260-x] [Cited by in Crossref: 26] [Cited by in F6Publishing: 23] [Article Influence: 4.3] [Reference Citation Analysis]
479 Chen H, Zhou X, Wang J, Wang X, Liu L, Wu S, Li T, Chen S, Yang J, Sham PC, Zhu G, Zhang X, Wang B. Exome Sequencing and Gene Prioritization Correct Misdiagnosis in a Chinese Kindred with Familial Amyloid Polyneuropathy. Sci Rep 2016;6:26362. [PMID: 27212199 DOI: 10.1038/srep26362] [Cited by in Crossref: 4] [Cited by in F6Publishing: 4] [Article Influence: 0.7] [Reference Citation Analysis]
480 Hoell C, Aufox S, Nashawaty N, Myers MF, Smith ME. Comprehension and personal value of negative non-diagnostic genetic panel testing. J Genet Couns 2021;30:418-27. [PMID: 32945059 DOI: 10.1002/jgc4.1327] [Cited by in F6Publishing: 1] [Reference Citation Analysis]
481 Farwell Hagman KD, Shinde DN, Mroske C, Smith E, Radtke K, Shahmirzadi L, El-Khechen D, Powis Z, Chao EC, Alcaraz WA, Helbig KL, Sajan SA, Rossi M, Lu HM, Huether R, Li S, Wu S, Nuñes ME, Tang S. Candidate-gene criteria for clinical reporting: diagnostic exome sequencing identifies altered candidate genes among 8% of patients with undiagnosed diseases. Genet Med 2017;19:224-35. [PMID: 27513193 DOI: 10.1038/gim.2016.95] [Cited by in Crossref: 32] [Cited by in F6Publishing: 30] [Article Influence: 5.3] [Reference Citation Analysis]
482 Jorge A. Whole Exome Sequencing in the Investigation of Growth Disorders, Including Patients with Primary IGF-1 Deficiency. Horm Res Paediatr 2017;88:421-2. [DOI: 10.1159/000481792] [Cited by in Crossref: 1] [Article Influence: 0.2] [Reference Citation Analysis]
483 O'Daniel JM, McLaughlin HM, Amendola LM, Bale SJ, Berg JS, Bick D, Bowling KM, Chao EC, Chung WK, Conlin LK, Cooper GM, Das S, Deignan JL, Dorschner MO, Evans JP, Ghazani AA, Goddard KA, Gornick M, Farwell Hagman KD, Hambuch T, Hegde M, Hindorff LA, Holm IA, Jarvik GP, Knight Johnson A, Mighion L, Morra M, Plon SE, Punj S, Richards CS, Santani A, Shirts BH, Spinner NB, Tang S, Weck KE, Wolf SM, Yang Y, Rehm HL. A survey of current practices for genomic sequencing test interpretation and reporting processes in US laboratories. Genet Med 2017;19:575-82. [PMID: 27811861 DOI: 10.1038/gim.2016.152] [Cited by in Crossref: 53] [Cited by in F6Publishing: 44] [Article Influence: 8.8] [Reference Citation Analysis]
484 Westphal DS, Leszinski GS, Rieger‐fackeldey E, Graf E, Weirich G, Meitinger T, Ostermayer E, Oberhoffer R, Wagner M. Lessons from exome sequencing in prenatally diagnosed heart defects: A basis for prenatal testing. Clin Genet 2019;95:582-9. [DOI: 10.1111/cge.13536] [Cited by in Crossref: 12] [Cited by in F6Publishing: 8] [Article Influence: 4.0] [Reference Citation Analysis]
485 Vears DF, Sénécal K, Borry P. Genetic health professionals' experiences returning results from diagnostic genomic sequencing to patients. Jrnl of Gene Coun 2020;29:807-15. [DOI: 10.1002/jgc4.1209] [Cited by in Crossref: 3] [Cited by in F6Publishing: 3] [Article Influence: 1.0] [Reference Citation Analysis]
486 Sadat R, Barca E, Masand R, Donti TR, Naini A, De Vivo DC, DiMauro S, Hanchard NA, Graham BH. Functional cellular analyses reveal energy metabolism defect and mitochondrial DNA depletion in a case of mitochondrial aconitase deficiency. Mol Genet Metab 2016;118:28-34. [PMID: 26992325 DOI: 10.1016/j.ymgme.2016.03.004] [Cited by in Crossref: 24] [Cited by in F6Publishing: 23] [Article Influence: 4.0] [Reference Citation Analysis]
487 Peng J, Xue H, Hui W, Lu J, Chen B, Jiang Q, Shang X, Wang Y. An online tool for measuring and visualizing phenotype similarities using HPO. BMC Genomics 2018;19:571. [PMID: 30367579 DOI: 10.1186/s12864-018-4927-z] [Cited by in Crossref: 3] [Article Influence: 0.8] [Reference Citation Analysis]
488 Zhang F, Lupski JR. Non-coding genetic variants in human disease. Hum Mol Genet 2015;24:R102-10. [PMID: 26152199 DOI: 10.1093/hmg/ddv259] [Cited by in Crossref: 269] [Cited by in F6Publishing: 204] [Article Influence: 38.4] [Reference Citation Analysis]
489 Emrick LT, DiCarlo SM. The Expanding Role of Genetics in Cerebral Palsy. Phys Med Rehabil Clin N Am 2020;31:15-24. [PMID: 31760988 DOI: 10.1016/j.pmr.2019.09.006] [Cited by in Crossref: 2] [Cited by in F6Publishing: 2] [Article Influence: 1.0] [Reference Citation Analysis]
490 Braun DA, Schueler M, Halbritter J, Gee HY, Porath JD, Lawson JA, Airik R, Shril S, Allen SJ, Stein D, Al Kindy A, Beck BB, Cengiz N, Moorani KN, Ozaltin F, Hashmi S, Sayer JA, Bockenhauer D, Soliman NA, Otto EA, Lifton RP, Hildebrandt F. Whole exome sequencing identifies causative mutations in the majority of consanguineous or familial cases with childhood-onset increased renal echogenicity. Kidney Int 2016;89:468-75. [PMID: 26489029 DOI: 10.1038/ki.2015.317] [Cited by in Crossref: 50] [Cited by in F6Publishing: 46] [Article Influence: 10.0] [Reference Citation Analysis]
491 Tanaka AJ, Cho MT, Millan F, Juusola J, Retterer K, Joshi C, Niyazov D, Garnica A, Gratz E, Deardorff M, Wilkins A, Ortiz-Gonzalez X, Mathews K, Panzer K, Brilstra E, van Gassen KL, Volker-Touw CM, van Binsbergen E, Sobreira N, Hamosh A, McKnight D, Monaghan KG, Chung WK. Mutations in SPATA5 Are Associated with Microcephaly, Intellectual Disability, Seizures, and Hearing Loss. Am J Hum Genet 2015;97:457-64. [PMID: 26299366 DOI: 10.1016/j.ajhg.2015.07.014] [Cited by in Crossref: 110] [Cited by in F6Publishing: 103] [Article Influence: 15.7] [Reference Citation Analysis]
492 Sobreira NL, Valle D. Lessons learned from the search for genes responsible for rare Mendelian disorders. Mol Genet Genomic Med 2016;4:371-5. [PMID: 27468413 DOI: 10.1002/mgg3.233] [Cited by in Crossref: 6] [Cited by in F6Publishing: 5] [Article Influence: 1.0] [Reference Citation Analysis]
493 Shendure J, Balasubramanian S, Church GM, Gilbert W, Rogers J, Schloss JA, Waterston RH. DNA sequencing at 40: past, present and future. Nature 2017;550:345-53. [DOI: 10.1038/nature24286] [Cited by in Crossref: 411] [Cited by in F6Publishing: 274] [Article Influence: 82.2] [Reference Citation Analysis]
494 Vrijenhoek T, Middelburg EM, Monroe GR, van Gassen KLI, Geenen JW, Hövels AM, Knoers NV, van Amstel HKP, Frederix GWJ. Whole-exome sequencing in intellectual disability; cost before and after a diagnosis. Eur J Hum Genet 2018;26:1566-71. [PMID: 29959382 DOI: 10.1038/s41431-018-0203-6] [Cited by in Crossref: 23] [Cited by in F6Publishing: 22] [Article Influence: 5.8] [Reference Citation Analysis]
495 Delanne J, Bruel AL, Huet F, Moutton S, Nambot S, Grisval M, Houcinat N, Kuentz P, Sorlin A, Callier P, Jean-Marcais N, Mosca-Boidron AL, Mau-Them FT, Denommé-Pichon AS, Vitobello A, Lehalle D, El Chehadeh S, Francannet C, Lebrun M, Lambert L, Jacquemont ML, Gerard-Blanluet M, Alessandri JL, Willems M, Thevenon J, Chouchane M, Darmency V, Fatus-Fauconnier C, Gay S, Bournez M, Masurel A, Leguy V, Duffourd Y, Philippe C, Feillet F, Faivre L, Thauvin-Robinet C. The diagnostic rate of inherited metabolic disorders by exome sequencing in a cohort of 547 individuals with developmental disorders. Mol Genet Metab Rep 2021;29:100812. [PMID: 34712575 DOI: 10.1016/j.ymgmr.2021.100812] [Reference Citation Analysis]
496 Lam WW, Millichap JJ, Soares DC, Chin R, McLellan A, FitzPatrick DR, Elmslie F, Lees MM, Schaefer GB, Abbott CM; DDD study. Novel de novo EEF1A2 missense mutations causing epilepsy and intellectual disability. Mol Genet Genomic Med 2016;4:465-74. [PMID: 27441201 DOI: 10.1002/mgg3.219] [Cited by in Crossref: 28] [Cited by in F6Publishing: 22] [Article Influence: 4.7] [Reference Citation Analysis]
497 Kingsmore SF. Newborn testing and screening by whole-genome sequencing. Genet Med 2016;18:214-6. [DOI: 10.1038/gim.2015.172] [Cited by in Crossref: 20] [Cited by in F6Publishing: 17] [Article Influence: 2.9] [Reference Citation Analysis]
498 Hamilton A, Tétreault M, Dyment DA, Zou R, Kernohan K, Geraghty MT, Hartley T, Boycott KM; FORGE Canada Consortium., Care4Rare Canada Consortium. Concordance between whole-exome sequencing and clinical Sanger sequencing: implications for patient care. Mol Genet Genomic Med 2016;4:504-12. [PMID: 27652278 DOI: 10.1002/mgg3.223] [Cited by in Crossref: 18] [Cited by in F6Publishing: 18] [Article Influence: 3.0] [Reference Citation Analysis]
499 Sanderson SC, Linderman MD, Suckiel SA, Diaz GA, Zinberg RE, Ferryman K, Wasserstein M, Kasarskis A, Schadt EE. Motivations, concerns and preferences of personal genome sequencing research participants: Baseline findings from the HealthSeq project. Eur J Hum Genet 2016;24:14-20. [PMID: 26036856 DOI: 10.1038/ejhg.2015.118] [Cited by in Crossref: 53] [Cited by in F6Publishing: 42] [Article Influence: 7.6] [Reference Citation Analysis]
500 Elmas M, Gogus B. Success of Face Analysis Technology in Rare Genetic Diseases Diagnosed by Whole-Exome Sequencing: A Single-Center Experience. Mol Syndromol 2020;11:4-14. [PMID: 32256296 DOI: 10.1159/000505800] [Cited by in Crossref: 8] [Cited by in F6Publishing: 2] [Article Influence: 4.0] [Reference Citation Analysis]
501 Oliver GR, Zimmermann MT, Klee EW, Urrutia RA. "The molecule's the thing:" the promise of molecular modeling and dynamic simulations in aiding the prioritization and interpretation of genomic testing results. F1000Res 2016;5:766. [PMID: 27408685 DOI: 10.12688/f1000research.8600.3] [Cited by in Crossref: 2] [Cited by in F6Publishing: 3] [Article Influence: 0.3] [Reference Citation Analysis]
502 Shibao CA, Joos K, Phillips JA 3rd, Cogan J, Newman JH, Hamid R, Meiler J, Capra J, Sheehan J, Vetrini F, Yang Y, Black B, Diedrich A, Roberston D, Biaggioni I. Familial Autonomic Ganglionopathy Caused by Rare CHRNA3 Genetic Variants. Neurology 2021;97:e145-55. [PMID: 33947782 DOI: 10.1212/WNL.0000000000012143] [Cited by in Crossref: 2] [Cited by in F6Publishing: 1] [Article Influence: 2.0] [Reference Citation Analysis]
503 Werner-lin A, Zaspel L, Carlson M, Mueller R, Walser SA, Desai R, Bernhardt BA. Gratitude, protective buffering, and cognitive dissonance: How families respond to pediatric whole exome sequencing in the absence of actionable results. Am J Med Genet 2018;176:578-88. [DOI: 10.1002/ajmg.a.38613] [Cited by in Crossref: 12] [Cited by in F6Publishing: 10] [Article Influence: 3.0] [Reference Citation Analysis]
504 Fu F, Li R, Li Y, Nie ZQ, Lei T, Wang D, Yang X, Han J, Pan M, Zhen L, Ou Y, Li J, Li FT, Jing X, Li D, Liao C. Whole exome sequencing as a diagnostic adjunct to clinical testing in fetuses with structural abnormalities. Ultrasound Obstet Gynecol 2018;51:493-502. [PMID: 28976722 DOI: 10.1002/uog.18915] [Cited by in Crossref: 56] [Cited by in F6Publishing: 49] [Article Influence: 14.0] [Reference Citation Analysis]
505 Güneş N, Taşdemir E, Jeffery H, Yetik H, Ostergaard P, Tüysüz B. A Novel Mutation of KIF11 in a Child with 22q11.2 Deletion Syndrome Associated with MCLMR. Mol Syndromol 2019;9:266-70. [PMID: 30733662 DOI: 10.1159/000491568] [Cited by in Crossref: 3] [Cited by in F6Publishing: 3] [Article Influence: 0.8] [Reference Citation Analysis]
506 McGee RB, Nichols KE. Introduction to cancer genetic susceptibility syndromes. Hematology Am Soc Hematol Educ Program 2016;2016:293-301. [PMID: 27913494 DOI: 10.1182/asheducation-2016.1.293] [Cited by in Crossref: 9] [Cited by in F6Publishing: 7] [Article Influence: 1.8] [Reference Citation Analysis]
507 Pratella D, Ait-El-Mkadem Saadi S, Bannwarth S, Paquis-Fluckinger V, Bottini S. A Survey of Autoencoder Algorithms to Pave the Diagnosis of Rare Diseases. Int J Mol Sci 2021;22:10891. [PMID: 34639231 DOI: 10.3390/ijms221910891] [Reference Citation Analysis]
508 Collett-solberg PF, Jorge AA, Boguszewski MC, Miller BS, Choong CSY, Cohen P, Hoffman AR, Luo X, Radovick S, Saenger P. Growth hormone therapy in children; research and practice – A review. Growth Hormone & IGF Research 2019;44:20-32. [DOI: 10.1016/j.ghir.2018.12.004] [Cited by in Crossref: 16] [Cited by in F6Publishing: 17] [Article Influence: 5.3] [Reference Citation Analysis]
509 Han JY, Lee IG. Genetic tests by next-generation sequencing in children with developmental delay and/or intellectual disability. Clin Exp Pediatr 2020;63:195-202. [PMID: 32024334 DOI: 10.3345/kjp.2019.00808] [Cited by in Crossref: 9] [Cited by in F6Publishing: 9] [Article Influence: 3.0] [Reference Citation Analysis]
510 Ge X, Gong H, Dumas K, Litwin J, Phillips JJ, Waisfisz Q, Weiss MM, Hendriks Y, Stuurman KE, Nelson SF, Grody WW, Lee H, Kwok PY, Shieh JT. Missense-depleted regions in population exomes implicate ras superfamily nucleotide-binding protein alteration in patients with brain malformation. NPJ Genom Med 2016;1:16036. [PMID: 28868155 DOI: 10.1038/npjgenmed.2016.36] [Cited by in Crossref: 21] [Cited by in F6Publishing: 21] [Article Influence: 3.5] [Reference Citation Analysis]
511 Belbin GM, Odgis J, Sorokin EP, Yee MC, Kohli S, Glicksberg BS, Gignoux CR, Wojcik GL, Van Vleck T, Jeff JM, Linderman M, Schurmann C, Ruderfer D, Cai X, Merkelson A, Justice AE, Young KL, Graff M, North KE, Peters U, James R, Hindorff L, Kornreich R, Edelmann L, Gottesman O, Stahl EE, Cho JH, Loos RJ, Bottinger EP, Nadkarni GN, Abul-Husn NS, Kenny EE. Genetic identification of a common collagen disease in puerto ricans via identity-by-descent mapping in a health system. Elife 2017;6:e25060. [PMID: 28895531 DOI: 10.7554/eLife.25060] [Cited by in Crossref: 46] [Cited by in F6Publishing: 23] [Article Influence: 9.2] [Reference Citation Analysis]
512 Weckselblatt B, Rudd MK. Human Structural Variation: Mechanisms of Chromosome Rearrangements. Trends Genet 2015;31:587-99. [PMID: 26209074 DOI: 10.1016/j.tig.2015.05.010] [Cited by in Crossref: 101] [Cited by in F6Publishing: 90] [Article Influence: 14.4] [Reference Citation Analysis]
513 O'Donnell-Luria AH, Miller DT. A Clinician's perspective on clinical exome sequencing. Hum Genet 2016;135:643-54. [PMID: 27126233 DOI: 10.1007/s00439-016-1662-x] [Cited by in Crossref: 26] [Cited by in F6Publishing: 21] [Article Influence: 4.3] [Reference Citation Analysis]
514 Chatron N, Thibault L, Lespinasse J, Labalme A, Schluth-Bolard C, Till M, Edery P, Touraine R, des Portes V, Lesca G, Sanlaville D. Genetic Counselling Pitfall: Co-Occurrence of an 11.8-Mb Xp22 Duplication and an Xp21.2 Duplication Disrupting IL1RAPL1. Mol Syndromol 2017;8:325-30. [PMID: 29230163 DOI: 10.1159/000479455] [Cited by in Crossref: 4] [Cited by in F6Publishing: 2] [Article Influence: 0.8] [Reference Citation Analysis]
515 Kanzi AM, San JE, Chimukangara B, Wilkinson E, Fish M, Ramsuran V, de Oliveira T. Next Generation Sequencing and Bioinformatics Analysis of Family Genetic Inheritance. Front Genet 2020;11:544162. [PMID: 33193618 DOI: 10.3389/fgene.2020.544162] [Cited by in Crossref: 2] [Cited by in F6Publishing: 2] [Article Influence: 1.0] [Reference Citation Analysis]
516 Murdock DR, Dai H, Burrage LC, Rosenfeld JA, Ketkar S, Müller MF, Yépez VA, Gagneur J, Liu P, Chen S, Jain M, Zapata G, Bacino CA, Chao HT, Moretti P, Craigen WJ, Hanchard NA, Lee B; Undiagnosed Diseases Network. Transcriptome-directed analysis for Mendelian disease diagnosis overcomes limitations of conventional genomic testing. J Clin Invest 2021;131:141500. [PMID: 33001864 DOI: 10.1172/JCI141500] [Cited by in Crossref: 14] [Cited by in F6Publishing: 5] [Article Influence: 14.0] [Reference Citation Analysis]
517 Niguidula N, Alamillo C, Shahmirzadi Mowlavi L, Powis Z, Cohen JS, Farwell Hagman KD. Clinical whole-exome sequencing results impact medical management. Mol Genet Genomic Med 2018;6:1068-78. [PMID: 30318729 DOI: 10.1002/mgg3.484] [Cited by in Crossref: 17] [Cited by in F6Publishing: 13] [Article Influence: 4.3] [Reference Citation Analysis]
518 Solomon BD, Lee T, Nguyen AD, Wolfsberg TG. A 2.5-year snapshot of Mendelian discovery. Mol Genet Genomic Med 2016;4:392-4. [PMID: 27468415 DOI: 10.1002/mgg3.221] [Cited by in Crossref: 6] [Cited by in F6Publishing: 7] [Article Influence: 1.0] [Reference Citation Analysis]
519 Vivante A, Hildebrandt F. Exploring the genetic basis of early-onset chronic kidney disease. Nat Rev Nephrol 2016;12:133-46. [PMID: 26750453 DOI: 10.1038/nrneph.2015.205] [Cited by in Crossref: 163] [Cited by in F6Publishing: 129] [Article Influence: 27.2] [Reference Citation Analysis]
520 Ruaud L, Mignot C, Guët A, Ohl C, Nava C, Héron D, Keren B, Depienne C, Benoit V, Maystadt I, Lederer D, Amsallem D, Piard J. DYRK1A mutations in two unrelated patients. European Journal of Medical Genetics 2015;58:168-74. [DOI: 10.1016/j.ejmg.2014.12.014] [Cited by in Crossref: 18] [Cited by in F6Publishing: 17] [Article Influence: 2.6] [Reference Citation Analysis]
521 Povysil G, Petrovski S, Hostyk J, Aggarwal V, Allen AS, Goldstein DB. Rare-variant collapsing analyses for complex traits: guidelines and applications. Nat Rev Genet 2019;20:747-59. [PMID: 31605095 DOI: 10.1038/s41576-019-0177-4] [Cited by in Crossref: 50] [Cited by in F6Publishing: 36] [Article Influence: 16.7] [Reference Citation Analysis]
522 Donti TR, Cappuccio G, Hubert L, Neira J, Atwal PS, Miller MJ, Cardon AL, Sutton VR, Porter BE, Baumer FM, Wangler MF, Sun Q, Emrick LT, Elsea SH. Diagnosis of adenylosuccinate lyase deficiency by metabolomic profiling in plasma reveals a phenotypic spectrum. Mol Genet Metab Rep 2016;8:61-6. [PMID: 27504266 DOI: 10.1016/j.ymgmr.2016.07.007] [Cited by in Crossref: 34] [Cited by in F6Publishing: 34] [Article Influence: 5.7] [Reference Citation Analysis]
523 Saykin AJ, Shen L, Yao X, Kim S, Nho K, Risacher SL, Ramanan VK, Foroud TM, Faber KM, Sarwar N, Munsie LM, Hu X, Soares HD, Potkin SG, Thompson PM, Kauwe JS, Kaddurah-Daouk R, Green RC, Toga AW, Weiner MW; Alzheimer's Disease Neuroimaging Initiative. Genetic studies of quantitative MCI and AD phenotypes in ADNI: Progress, opportunities, and plans. Alzheimers Dement 2015;11:792-814. [PMID: 26194313 DOI: 10.1016/j.jalz.2015.05.009] [Cited by in Crossref: 148] [Cited by in F6Publishing: 129] [Article Influence: 24.7] [Reference Citation Analysis]
524 Tanaka AJ, Bai R, Cho MT, Anyane-Yeboa K, Ahimaz P, Wilson AL, Kendall F, Hay B, Moss T, Nardini M, Bauer M, Retterer K, Juusola J, Chung WK. De novo mutations in PURA are associated with hypotonia and developmental delay. Cold Spring Harb Mol Case Stud 2015;1:a000356. [PMID: 27148565 DOI: 10.1101/mcs.a000356] [Cited by in Crossref: 26] [Cited by in F6Publishing: 23] [Article Influence: 4.3] [Reference Citation Analysis]
525 Aggarwal S, Das Bhowmik A, Tandon A, Dalal A. Exome sequencing reveals blended phenotype of double heterozygous FBN1 and FBN2 variants in a fetus. European Journal of Medical Genetics 2018;61:399-402. [DOI: 10.1016/j.ejmg.2018.02.009] [Cited by in Crossref: 5] [Cited by in F6Publishing: 4] [Article Influence: 1.3] [Reference Citation Analysis]
526 Krusche P, Trigg L, Boutros PC, Mason CE, De La Vega FM, Moore BL, Gonzalez-Porta M, Eberle MA, Tezak Z, Lababidi S, Truty R, Asimenos G, Funke B, Fleharty M, Chapman BA, Salit M, Zook JM; Global Alliance for Genomics and Health Benchmarking Team. Best practices for benchmarking germline small-variant calls in human genomes. Nat Biotechnol 2019;37:555-60. [PMID: 30858580 DOI: 10.1038/s41587-019-0054-x] [Cited by in Crossref: 107] [Cited by in F6Publishing: 67] [Article Influence: 35.7] [Reference Citation Analysis]
527 Petracchi F, Sisterna S, Igarzabal L, Wilkins-Haug L. Fetal cardiac abnormalities: Genetic etiologies to be considered. Prenat Diagn 2019;39:758-80. [PMID: 31087396 DOI: 10.1002/pd.5480] [Cited by in Crossref: 4] [Cited by in F6Publishing: 3] [Article Influence: 1.3] [Reference Citation Analysis]
528 Bick D, Fraser PC, Gutzeit MF, Harris JM, Hambuch TM, Helbling DC, Jacob HJ, Kersten JN, Leuthner SR, May T, North PE, Prisco SZ, Schuler BA, Shimoyama M, Strong KA, Van Why SK, Veith R, Verbsky J, Weborg AM Jr, Wilk BM, Willoughby RE Jr, Worthey EA, Dimmock DP. Successful Application of Whole Genome Sequencing in a Medical Genetics Clinic. J Pediatr Genet 2017;6:61-76. [PMID: 28496993 DOI: 10.1055/s-0036-1593968] [Cited by in Crossref: 3] [Cited by in F6Publishing: 27] [Article Influence: 0.5] [Reference Citation Analysis]
529 Ellingford JM, Barton S, Bhaskar S, O'Sullivan J, Williams SG, Lamb JA, Panda B, Sergouniotis PI, Gillespie RL, Daiger SP, Hall G, Gale T, Lloyd IC, Bishop PN, Ramsden SC, Black GCM. Molecular findings from 537 individuals with inherited retinal disease. J Med Genet 2016;53:761-7. [PMID: 27208204 DOI: 10.1136/jmedgenet-2016-103837] [Cited by in Crossref: 81] [Cited by in F6Publishing: 70] [Article Influence: 13.5] [Reference Citation Analysis]
530 Quaio CRDC, Moreira CM, Novo‐filho GM, Sacramento‐bobotis PR, Groenner Penna M, Perazzio SF, Dutra AP, Silva RA, Santos MNP, Arruda VYN, Freitas VG, Pereira VC, Pintao MC, Fornari ARDS, Buzolin AL, Oku AY, Burger M, Ramalho RF, Marco Antonio DS, Ferreira EN, Pereira OJE, Cantagalli VD, Trindade ACG, Sousa RRF, Reys Furuzawa C, Verzini F, Matalhana SD, Romano N, Paixão D, Olivati C, Spolador GM, Maciel GAR, Rocha VZ, Miguelez J, Carvalho MHB, Souza AWS, Andrade LEC, Chauffaille MDL, Perazzio ADSB, Catelani ALPM, Mitne‐neto M, Kim CA, Baratela WADR. Diagnostic power and clinical impact of exome sequencing in a cohort of 500 patients with rare diseases. Am J Med Genet 2020;184:955-64. [DOI: 10.1002/ajmg.c.31860] [Cited by in Crossref: 5] [Cited by in F6Publishing: 2] [Article Influence: 2.5] [Reference Citation Analysis]
531 Horga A, Manole A, Mitchell AL, Bugiardini E, Hargreaves IP, Mowafi W, Bettencourt C, Blakely EL, He L, Polke JM, Woodward CE, Dalla Rosa I, Shah S, Pittman AM, Quinlivan R, Reilly MM, Taylor RW, Holt IJ, Hanna MG, Pitceathly RDS, Spinazzola A, Houlden H. Uniparental isodisomy of chromosome 2 causing MRPL44-related multisystem mitochondrial disease. Mol Biol Rep 2021;48:2093-104. [PMID: 33742325 DOI: 10.1007/s11033-021-06188-1] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 1.0] [Reference Citation Analysis]
532 Cristofoli F, De Keersmaecker B, De Catte L, Vermeesch JR, Van Esch H. Novel STIL Compound Heterozygous Mutations Cause Severe Fetal Microcephaly and Centriolar Lengthening. Mol Syndromol 2017;8:282-93. [PMID: 29230157 DOI: 10.1159/000479666] [Cited by in Crossref: 10] [Cited by in F6Publishing: 8] [Article Influence: 2.0] [Reference Citation Analysis]
533 Boczek NJ, Kruisselbrink T, Cousin MA, Blackburn PR, Klee EW, Gavrilova RH, Lanpher BC. Multigenerational pedigree with STAR syndrome: A novel FAM58A variant and expansion of the phenotype. Am J Med Genet A 2017;173:1328-33. [PMID: 28322501 DOI: 10.1002/ajmg.a.38113] [Cited by in Crossref: 7] [Cited by in F6Publishing: 8] [Article Influence: 1.4] [Reference Citation Analysis]
534 Albuquerque EVA, Scalco RC, Jorge AAL. MANAGEMENT OF ENDOCRINE DISEASE: Diagnostic and therapeutic approach of tall stature. Eur J Endocrinol 2017;176:R339-53. [PMID: 28274950 DOI: 10.1530/EJE-16-1054] [Cited by in Crossref: 15] [Cited by in F6Publishing: 8] [Article Influence: 3.0] [Reference Citation Analysis]
535 Baynam G, Bowman F, Lister K, Walker CE, Pachter N, Goldblatt J, Boycott KM, Gahl WA, Kosaki K, Adachi T, Ishii K, Mahede T, McKenzie F, Townshend S, Slee J, Kiraly-Borri C, Vasudevan A, Hawkins A, Broley S, Schofield L, Verhoef H, Groza T, Zankl A, Robinson PN, Haendel M, Brudno M, Mattick JS, Dinger ME, Roscioli T, Cowley MJ, Olry A, Hanauer M, Alkuraya FS, Taruscio D, Posada de la Paz M, Lochmüller H, Bushby K, Thompson R, Hedley V, Lasko P, Mina K, Beilby J, Tifft C, Davis M, Laing NG, Julkowska D, Le Cam Y, Terry SF, Kaufmann P, Eerola I, Norstedt I, Rath A, Suematsu M, Groft SC, Austin CP, Draghia-Akli R, Weeramanthri TS, Molster C, Dawkins HJS. Improved Diagnosis and Care for Rare Diseases through Implementation of Precision Public Health Framework. Adv Exp Med Biol 2017;1031:55-94. [PMID: 29214566 DOI: 10.1007/978-3-319-67144-4_4] [Cited by in Crossref: 8] [Cited by in F6Publishing: 9] [Article Influence: 2.0] [Reference Citation Analysis]
536 Stojanovic JR, Miletic A, Peterlin B, Maver A, Mijovic M, Borlja N, Dimitrijevic B, Soldatovic I, Cuturilo G. Diagnostic and Clinical Utility of Clinical Exome Sequencing in Children With Moderate and Severe Global Developmental Delay / Intellectual Disability. J Child Neurol 2020;35:116-31. [PMID: 31623504 DOI: 10.1177/0883073819879835] [Cited by in Crossref: 10] [Cited by in F6Publishing: 8] [Article Influence: 3.3] [Reference Citation Analysis]
537 Lay E, Azamian MS, Denfield SW, Dreyer W, Spinner JA, Kearney D, Zhang L, Worley KC, Bi W, Lalani SR. LMOD2-related dilated cardiomyopathy presenting in late infancy. Am J Med Genet A 2022. [PMID: 35188328 DOI: 10.1002/ajmg.a.62699] [Reference Citation Analysis]
538 Kennedy AD, Wittmann BM, Evans AM, Miller LAD, Toal DR, Lonergan S, Elsea SH, Pappan KL. Metabolomics in the clinic: A review of the shared and unique features of untargeted metabolomics for clinical research and clinical testing. J Mass Spectrom 2018;53:1143-54. [PMID: 30242936 DOI: 10.1002/jms.4292] [Cited by in Crossref: 28] [Cited by in F6Publishing: 22] [Article Influence: 7.0] [Reference Citation Analysis]
539 Reichart G, Mayer J, Zehm C, Kirschstein T, Tokay T, Lange F, Baltrusch S, Tiedge M, Fuellen G, Ibrahim S, Köhling R. Mitochondrial complex IV mutation increases reactive oxygen species production and reduces lifespan in aged mice. Acta Physiol (Oxf) 2019;225:e13214. [PMID: 30376218 DOI: 10.1111/apha.13214] [Cited by in Crossref: 15] [Cited by in F6Publishing: 13] [Article Influence: 3.8] [Reference Citation Analysis]
540 Wang H, Qian Y, Lu Y, Qin Q, Lu G, Cheng G, Zhang P, Yang L, Wu B, Zhou W. Clinical utility of 24-h rapid trio-exome sequencing for critically ill infants. NPJ Genom Med 2020;5:20. [PMID: 32411386 DOI: 10.1038/s41525-020-0129-0] [Cited by in Crossref: 13] [Cited by in F6Publishing: 11] [Article Influence: 6.5] [Reference Citation Analysis]
541 McDonnell KJ, Gallanis GT, Heller KA, Melas M, Idos GE, Culver JO, Martin SE, Peng DH, Gruber SB. A novel BAP1 mutation is associated with melanocytic neoplasms and thyroid cancer. Cancer Genet 2016;209:75-81. [PMID: 26774355 DOI: 10.1016/j.cancergen.2015.12.007] [Cited by in Crossref: 17] [Cited by in F6Publishing: 14] [Article Influence: 2.4] [Reference Citation Analysis]
542 Ki CS. Recent Advances in the Clinical Application of Next-Generation Sequencing. Pediatr Gastroenterol Hepatol Nutr 2021;24:1-6. [PMID: 33505888 DOI: 10.5223/pghn.2021.24.1.1] [Cited by in Crossref: 2] [Cited by in F6Publishing: 2] [Article Influence: 2.0] [Reference Citation Analysis]
543 Ji J, Leung ML, Baker S, Deignan JL, Santani A. Clinical Exome Reanalysis: Current Practice and Beyond. Mol Diagn Ther 2021;25:529-36. [PMID: 34283395 DOI: 10.1007/s40291-021-00541-7] [Reference Citation Analysis]
544 Guo W, Lai Y, Yan Z, Wang Y, Nie Y, Guan S, Kuo Y, Zhang W, Zhu X, Peng M, Zhi X, Wei Y, Yan L, Qiao J. Trio-whole-exome sequencing and preimplantation genetic diagnosis for unexplained recurrent fetal malformations. Hum Mutat 2020;41:432-48. [PMID: 31680349 DOI: 10.1002/humu.23935] [Cited by in Crossref: 3] [Cited by in F6Publishing: 3] [Article Influence: 1.0] [Reference Citation Analysis]
545 Mallett A, Patel C, Maier B, McGaughran J, Gabbett M, Takasato M, Cameron A, Trnka P, Alexander SI, Rangan G, Tchan MC, Caruana G, John G, Quinlan C, McCarthy HJ, Hyland V, Hoy WE, Wolvetang E, Taft R, Simons C, Healy H, Little M. A protocol for the identification and validation of novel genetic causes of kidney disease. BMC Nephrol 2015;16:152. [PMID: 26374634 DOI: 10.1186/s12882-015-0148-8] [Cited by in Crossref: 7] [Cited by in F6Publishing: 6] [Article Influence: 1.0] [Reference Citation Analysis]
546 Qin L, Wang J, Tian X, Yu H, Truong C, Mitchell JJ, Wierenga KJ, Craigen WJ, Zhang VW, Wong LC. Detection and Quantification of Mosaic Mutations in Disease Genes by Next-Generation Sequencing. J Mol Diagn 2016;18:446-53. [PMID: 26944031 DOI: 10.1016/j.jmoldx.2016.01.002] [Cited by in Crossref: 52] [Cited by in F6Publishing: 44] [Article Influence: 8.7] [Reference Citation Analysis]
547 Smedley D, Jacobsen JO, Jäger M, Köhler S, Holtgrewe M, Schubach M, Siragusa E, Zemojtel T, Buske OJ, Washington NL, Bone WP, Haendel MA, Robinson PN. Next-generation diagnostics and disease-gene discovery with the Exomiser. Nat Protoc 2015;10:2004-15. [PMID: 26562621 DOI: 10.1038/nprot.2015.124] [Cited by in Crossref: 150] [Cited by in F6Publishing: 107] [Article Influence: 21.4] [Reference Citation Analysis]
548 Sobreira N, Schiettecatte F, Boehm C, Valle D, Hamosh A. New tools for Mendelian disease gene identification: PhenoDB variant analysis module; and GeneMatcher, a web-based tool for linking investigators with an interest in the same gene. Hum Mutat 2015;36:425-31. [PMID: 25684268 DOI: 10.1002/humu.22769] [Cited by in Crossref: 99] [Cited by in F6Publishing: 91] [Article Influence: 14.1] [Reference Citation Analysis]
549 Trujillano D, Bertoli-Avella AM, Kumar Kandaswamy K, Weiss ME, Köster J, Marais A, Paknia O, Schröder R, Garcia-Aznar JM, Werber M, Brandau O, Calvo Del Castillo M, Baldi C, Wessel K, Kishore S, Nahavandi N, Eyaid W, Al Rifai MT, Al-Rumayyan A, Al-Twaijri W, Alothaim A, Alhashem A, Al-Sannaa N, Al-Balwi M, Alfadhel M, Rolfs A, Abou Jamra R. Clinical exome sequencing: results from 2819 samples reflecting 1000 families. Eur J Hum Genet 2017;25:176-82. [PMID: 27848944 DOI: 10.1038/ejhg.2016.146] [Cited by in Crossref: 182] [Cited by in F6Publishing: 168] [Article Influence: 30.3] [Reference Citation Analysis]
550 Xue S, Yan H, Chen J, Li N, Wang J, Liu Y, Zhang H, Li S, Zhang W, Chen D, Chen M. Genetic Examination for Fetuses with Increased Fetal Nuchal Translucency by Genomic Technology. Cytogenet Genome Res 2020;160:57-62. [PMID: 32036363 DOI: 10.1159/000506095] [Cited by in Crossref: 5] [Cited by in F6Publishing: 4] [Article Influence: 2.5] [Reference Citation Analysis]
551 Alhamoudi KM, Bhat J, Nashabat M, Alharbi M, Alyafee Y, Asiri A, Umair M, Alfadhel M. A Missense Mutation in the UGDH Gene Is Associated With Developmental Delay and Axial Hypotonia. Front Pediatr 2020;8:71. [PMID: 32175296 DOI: 10.3389/fped.2020.00071] [Cited by in Crossref: 4] [Cited by in F6Publishing: 5] [Article Influence: 2.0] [Reference Citation Analysis]
552 Chen Z, Zheng Y, Yang Y, Huang Y, Zhao S, Zhao H, Yu C, Dong X, Zhang Y, Wang L, Zhao Z, Wang S, Yang Y, Ming Y, Su J, Qiu G, Wu Z, Zhang TJ, Wu N. PhenoApt leverages clinical expertise to prioritize candidate genes via machine learning. The American Journal of Human Genetics 2022. [DOI: 10.1016/j.ajhg.2021.12.008] [Reference Citation Analysis]
553 Amendola LM, Berg JS, Horowitz CR, Angelo F, Bensen JT, Biesecker BB, Biesecker LG, Cooper GM, East K, Filipski K, Fullerton SM, Gelb BD, Goddard KAB, Hailu B, Hart R, Hassmiller-Lich K, Joseph G, Kenny EE, Koenig BA, Knight S, Kwok PY, Lewis KL, McGuire AL, Norton ME, Ou J, Parsons DW, Powell BC, Risch N, Robinson M, Rini C, Scollon S, Slavotinek AM, Veenstra DL, Wasserstein MP, Wilfond BS, Hindorff LA, Plon SE, Jarvik GP; CSER consortium. The Clinical Sequencing Evidence-Generating Research Consortium: Integrating Genomic Sequencing in Diverse and Medically Underserved Populations. Am J Hum Genet 2018;103:319-27. [PMID: 30193136 DOI: 10.1016/j.ajhg.2018.08.007] [Cited by in Crossref: 53] [Cited by in F6Publishing: 47] [Article Influence: 17.7] [Reference Citation Analysis]
554 Stenton SL, Prokisch H. The Clinical Application of RNA Sequencing in Genetic Diagnosis of Mendelian Disorders. Advances in Molecular Pathology 2018;1:27-36. [DOI: 10.1016/j.yamp.2018.06.004] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 0.3] [Reference Citation Analysis]
555 Wynn J, Ottman R, Duong J, Wilson AL, Ahimaz P, Martinez J, Rabin R, Rosen E, Webster R, Au C, Cho MT, Egan C, Guzman E, Primiano M, Shaw JE, Sisson R, Klitzman RL, Appelbaum PS, Lichter-Konecki U, Anyane-Yeboa K, Iglesias A, Chung WK. Diagnostic exome sequencing in children: A survey of parental understanding, experience and psychological impact. Clin Genet 2018;93:1039-48. [PMID: 29266212 DOI: 10.1111/cge.13200] [Cited by in Crossref: 24] [Cited by in F6Publishing: 24] [Article Influence: 6.0] [Reference Citation Analysis]
556 Papuc SM, Abela L, Steindl K, Begemann A, Simmons TL, Schmitt B, Zweier M, Oneda B, Socher E, Crowther LM, Wohlrab G, Gogoll L, Poms M, Seiler M, Papik M, Baldinger R, Baumer A, Asadollahi R, Kroell-Seger J, Schmid R, Iff T, Schmitt-Mechelke T, Otten K, Hackenberg A, Addor MC, Klein A, Azzarello-Burri S, Sticht H, Joset P, Plecko B, Rauch A. The role of recessive inheritance in early-onset epileptic encephalopathies: a combined whole-exome sequencing and copy number study. Eur J Hum Genet 2019;27:408-21. [PMID: 30552426 DOI: 10.1038/s41431-018-0299-8] [Cited by in Crossref: 22] [Cited by in F6Publishing: 18] [Article Influence: 5.5] [Reference Citation Analysis]
557 Vora NL, Hui L. Next-generation sequencing and prenatal 'omics: advanced diagnostics and new insights into human development. Genet Med 2018;20:791-9. [PMID: 30032162 DOI: 10.1038/s41436-018-0087-4] [Cited by in Crossref: 13] [Cited by in F6Publishing: 7] [Article Influence: 3.3] [Reference Citation Analysis]
558 Evers C, Staufner C, Granzow M, Paramasivam N, Hinderhofer K, Kaufmann L, Fischer C, Thiel C, Opladen T, Kotzaeridou U, Wiemann S, Schlesner M, Eils R, Kölker S, Bartram CR, Hoffmann GF, Moog U. Impact of clinical exomes in neurodevelopmental and neurometabolic disorders. Molecular Genetics and Metabolism 2017;121:297-307. [DOI: 10.1016/j.ymgme.2017.06.014] [Cited by in Crossref: 29] [Cited by in F6Publishing: 25] [Article Influence: 5.8] [Reference Citation Analysis]
559 Gillentine MA, Schaaf CP, Patel A. The importance of phase analysis in multiexon copy number variation detected by aCGH in autosomal recessive disorder loci. Am J Med Genet A 2017;173:2485-8. [PMID: 28631888 DOI: 10.1002/ajmg.a.38328] [Cited by in Crossref: 6] [Cited by in F6Publishing: 2] [Article Influence: 1.2] [Reference Citation Analysis]
560 Mahfouz NA, Kizhakkedath P, Ibrahim A, El Naofal M, Ramaswamy S, Harilal D, Qutub Y, Uddin M, Taylor A, Alloub Z, AlBanna A, Abuhammour W, Fathalla B, Tayoun AA. Utility of clinical exome sequencing in a complex Emirati pediatric cohort. Comput Struct Biotechnol J 2020;18:1020-7. [PMID: 32382396 DOI: 10.1016/j.csbj.2020.04.013] [Cited by in Crossref: 6] [Cited by in F6Publishing: 4] [Article Influence: 3.0] [Reference Citation Analysis]
561 Powis Z, Farwell Hagman KD, Blanco K, Au M, Graham JM, Singh K, Gallant N, Randolph LM, Towne M, Hunter J, Shinde DN, Palmaer E, Schoenfeld B, Tang S. When moments matter: Finding answers with rapid exome sequencing. Mol Genet Genomic Med 2020;8:e1027. [PMID: 31872981 DOI: 10.1002/mgg3.1027] [Cited by in Crossref: 2] [Cited by in F6Publishing: 3] [Article Influence: 0.7] [Reference Citation Analysis]
562 Shamseldin HE, Maddirevula S, Faqeih E, Ibrahim N, Hashem M, Shaheen R, Alkuraya FS. Increasing the sensitivity of clinical exome sequencing through improved filtration strategy. Genet Med 2017;19:593-8. [PMID: 27711071 DOI: 10.1038/gim.2016.155] [Cited by in Crossref: 38] [Cited by in F6Publishing: 36] [Article Influence: 6.3] [Reference Citation Analysis]
563 Rosell AM, Pena LD, Schoch K, Spillmann R, Sullivan J, Hooper SR, Jiang YH, Mathey-Andrews N, Goldstein DB, Shashi V. Not the End of the Odyssey: Parental Perceptions of Whole Exome Sequencing (WES) in Pediatric Undiagnosed Disorders. J Genet Couns 2016;25:1019-31. [PMID: 26868367 DOI: 10.1007/s10897-016-9933-1] [Cited by in Crossref: 53] [Cited by in F6Publishing: 49] [Article Influence: 8.8] [Reference Citation Analysis]
564 Rego S, Dagan-Rosenfeld O, Zhou W, Sailani MR, Limcaoco P, Colbert E, Avina M, Wheeler J, Craig C, Salins D, Röst HL, Dunn J, McLaughlin T, Steinmetz LM, Bernstein JA, Snyder MP. High-frequency actionable pathogenic exome variants in an average-risk cohort. Cold Spring Harb Mol Case Stud 2018;4:a003178. [PMID: 30487145 DOI: 10.1101/mcs.a003178] [Cited by in Crossref: 15] [Cited by in F6Publishing: 10] [Article Influence: 3.8] [Reference Citation Analysis]
565 Shevchenko Y, Bale S. Clinical Versus Research Sequencing. Cold Spring Harb Perspect Med 2016;6:a025809. [PMID: 27638353 DOI: 10.1101/cshperspect.a025809] [Cited by in Crossref: 12] [Cited by in F6Publishing: 10] [Article Influence: 2.0] [Reference Citation Analysis]
566 Lupo PJ, Agopian AJ, Castillo H, Castillo J, Clayton GH, Dosa NP, Hopson B, Joseph DB, Rocque BG, Walker WO, Wiener JS, Mitchell LE. Genetic epidemiology of neural tube defects. J Pediatr Rehabil Med 2017;10:189-94. [PMID: 29125517 DOI: 10.3233/PRM-170456] [Cited by in Crossref: 8] [Cited by in F6Publishing: 4] [Article Influence: 2.0] [Reference Citation Analysis]
567 Stark Z, Tan TY, Chong B, Brett GR, Yap P, Walsh M, Yeung A, Peters H, Mordaunt D, Cowie S, Amor DJ, Savarirayan R, Mcgillivray G, Downie L, Ekert PG, Theda C, James PA, Yaplito-lee J, Ryan MM, Leventer RJ, Creed E, Macciocca I, Bell KM, Oshlack A, Sadedin S, Georgeson P, Anderson C, Thorne N, Gaff C, White SM; Melbourne Genomics Health Alliance. A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders. Genet Med 2016;18:1090-6. [DOI: 10.1038/gim.2016.1] [Cited by in Crossref: 213] [Cited by in F6Publishing: 184] [Article Influence: 35.5] [Reference Citation Analysis]
568 Lindstrand A, Frangakis S, Carvalho CM, Richardson EB, McFadden KA, Willer JR, Pehlivan D, Liu P, Pediaditakis IL, Sabo A, Lewis RA, Banin E, Lupski JR, Davis EE, Katsanis N. Copy-Number Variation Contributes to the Mutational Load of Bardet-Biedl Syndrome. Am J Hum Genet 2016;99:318-36. [PMID: 27486776 DOI: 10.1016/j.ajhg.2015.04.023] [Cited by in Crossref: 63] [Cited by in F6Publishing: 56] [Article Influence: 12.6] [Reference Citation Analysis]
569 Lee J, Ha S, Lee ST, Park SG, Shin S, Choi JR, Cheon KA. Next-Generation Sequencing in Korean Children With Autism Spectrum Disorder and Comorbid Epilepsy. Front Pharmacol 2020;11:585. [PMID: 32477112 DOI: 10.3389/fphar.2020.00585] [Cited by in Crossref: 3] [Cited by in F6Publishing: 2] [Article Influence: 1.5] [Reference Citation Analysis]
570 Smith HS, Swint JM, Lalani SR, Yamal JM, de Oliveira Otto MC, Castellanos S, Taylor A, Lee BH, Russell HV. Clinical Application of Genome and Exome Sequencing as a Diagnostic Tool for Pediatric Patients: a Scoping Review of the Literature. Genet Med 2019;21:3-16. [PMID: 29760485 DOI: 10.1038/s41436-018-0024-6] [Cited by in Crossref: 41] [Cited by in F6Publishing: 38] [Article Influence: 10.3] [Reference Citation Analysis]
571 Bosch DG, Boonstra FN, de Leeuw N, Pfundt R, Nillesen WM, de Ligt J, Gilissen C, Jhangiani S, Lupski JR, Cremers FP, de Vries BB. Novel genetic causes for cerebral visual impairment. Eur J Hum Genet 2016;24:660-5. [PMID: 26350515 DOI: 10.1038/ejhg.2015.186] [Cited by in Crossref: 80] [Cited by in F6Publishing: 74] [Article Influence: 11.4] [Reference Citation Analysis]
572 Lacoste C, Fabre A, Pécheux C, Lévy N, Krahn M, Malzac P, Bonello-palot N, Badens C, Bourgeois P. Le séquençage d’ADN à haut débit en pratique clinique. Archives de Pédiatrie 2017;24:373-83. [DOI: 10.1016/j.arcped.2017.01.008] [Cited by in Crossref: 2] [Cited by in F6Publishing: 3] [Article Influence: 0.4] [Reference Citation Analysis]
573 Oh SH, Baek J, Kim KM, Lee EJ, Jung Y, Lee YJ, Jin HS, Ye BD, Yang SK, Lee JK, Seo EJ, Lim HT, Lee I, Song K. Is Whole Exome Sequencing Clinically Practical in the Management of Pediatric Crohn's Disease? Gut Liver 2015;9:767-75. [PMID: 26503572 DOI: 10.5009/gnl15176] [Cited by in Crossref: 7] [Cited by in F6Publishing: 7] [Article Influence: 1.2] [Reference Citation Analysis]
574 Rehder C, Bean LJH, Bick D, Chao E, Chung W, Das S, O'Daniel J, Rehm H, Shashi V, Vincent LM; ACMG Laboratory Quality Assurance Committee. Next-generation sequencing for constitutional variants in the clinical laboratory, 2021 revision: a technical standard of the American College of Medical Genetics and Genomics (ACMG). Genet Med 2021;23:1399-415. [PMID: 33927380 DOI: 10.1038/s41436-021-01139-4] [Cited by in Crossref: 4] [Cited by in F6Publishing: 3] [Article Influence: 4.0] [Reference Citation Analysis]
575 Mao X, Li K, Tang B, Luo Y, Ding D, Zhao Y, Wang C, Zhou X, Liu Z, Zhang Y, Wang P, Xu Q, Sun Q, Xia K, Yan X, Jiang H, Lu S, Guo J. Novel mutations in ADSL for Adenylosuccinate Lyase Deficiency identified by the combination of Trio-WES and constantly updated guidelines. Sci Rep 2017;7:1625. [PMID: 28487569 DOI: 10.1038/s41598-017-01637-z] [Cited by in Crossref: 7] [Cited by in F6Publishing: 6] [Article Influence: 1.4] [Reference Citation Analysis]
576 Grozeva D, Carss K, Spasic-Boskovic O, Tejada MI, Gecz J, Shaw M, Corbett M, Haan E, Thompson E, Friend K, Hussain Z, Hackett A, Field M, Renieri A, Stevenson R, Schwartz C, Floyd JA, Bentham J, Cosgrove C, Keavney B, Bhattacharya S, Hurles M, Raymond FL; Italian X-linked Mental Retardation Project., UK10K Consortium., GOLD Consortium. Targeted Next-Generation Sequencing Analysis of 1,000 Individuals with Intellectual Disability. Hum Mutat 2015;36:1197-204. [PMID: 26350204 DOI: 10.1002/humu.22901] [Cited by in Crossref: 112] [Cited by in F6Publishing: 98] [Article Influence: 16.0] [Reference Citation Analysis]
577 Asiri A, Aloyouni E, Umair M, Alyafee Y, Al Tuwaijri A, Alhamoudi KM, Almuzzaini B, Al Baz A, Alwadaani D, Nashabat M, Alfadhel M. Mutated RAP1GDS1 causes a new syndrome of dysmorphic feature, intellectual disability & speech delay. Ann Clin Transl Neurol 2020;7:956-64. [PMID: 32431071 DOI: 10.1002/acn3.51059] [Cited by in Crossref: 3] [Cited by in F6Publishing: 4] [Article Influence: 1.5] [Reference Citation Analysis]
578 Yamamoto T, Imaizumi T, Yamamoto-shimojima K, Lu Y, Yanagishita T, Shimada S, Chong PF, Kira R, Ueda R, Ishiyama A, Takeshita E, Momosaki K, Ozasa S, Akiyama T, Kobayashi K, Oomatsu H, Kitahara H, Yamaguchi T, Imai K, Kurahashi H, Okumura A, Oguni H, Seto T, Okamoto N. Genomic backgrounds of Japanese patients with undiagnosed neurodevelopmental disorders. Brain and Development 2019;41:776-82. [DOI: 10.1016/j.braindev.2019.05.007] [Cited by in Crossref: 18] [Cited by in F6Publishing: 13] [Article Influence: 6.0] [Reference Citation Analysis]
579 Møller RS, Larsen LH, Johannesen KM, Talvik I, Talvik T, Vaher U, Miranda MJ, Farooq M, Nielsen JE, Svendsen LL, Kjelgaard DB, Linnet KM, Hao Q, Uldall P, Frangu M, Tommerup N, Baig SM, Abdullah U, Born AP, Gellert P, Nikanorova M, Olofsson K, Jepsen B, Marjanovic D, Al-Zehhawi LI, Peñalva SJ, Krag-Olsen B, Brusgaard K, Hjalgrim H, Rubboli G, Pal DK, Dahl HA. Gene Panel Testing in Epileptic Encephalopathies and Familial Epilepsies. Mol Syndromol 2016;7:210-9. [PMID: 27781031 DOI: 10.1159/000448369] [Cited by in Crossref: 64] [Cited by in F6Publishing: 57] [Article Influence: 10.7] [Reference Citation Analysis]
580 Carvalho CM, Pfundt R, King DA, Lindsay SJ, Zuccherato LW, Macville MV, Liu P, Johnson D, Stankiewicz P, Brown CW, Shaw CA, Hurles ME, Ira G, Hastings PJ, Brunner HG, Lupski JR; DDD Study. Absence of heterozygosity due to template switching during replicative rearrangements. Am J Hum Genet 2015;96:555-64. [PMID: 25799105 DOI: 10.1016/j.ajhg.2015.01.021] [Cited by in Crossref: 38] [Cited by in F6Publishing: 36] [Article Influence: 5.4] [Reference Citation Analysis]
581 Volk AE, Kubisch C. The rapid evolution of molecular genetic diagnostics in neuromuscular diseases. Curr Opin Neurol 2017;30:523-8. [PMID: 28665809 DOI: 10.1097/WCO.0000000000000478] [Cited by in Crossref: 24] [Cited by in F6Publishing: 11] [Article Influence: 6.0] [Reference Citation Analysis]
582 McConkie-Rosell A, Schoch K, Sullivan J, Spillmann RC, Cope H, Tan QK, Palmer CGS, Hooper SR, Shashi V; Undiagnosed Disease Network. Clinical application of a scale to assess genomic healthcare empowerment (GEmS): Process and illustrative case examples. J Genet Couns 2021. [PMID: 34115423 DOI: 10.1002/jgc4.1451] [Reference Citation Analysis]
583 Yates J, Gutiérrez-Sacristán A, Jouhet V, LeBlanc K, Esteves C, DeSain TN, Benik N, Stedman J, Palmer N, Mellon G, Kohane I, Avillach P; Undiagnosed Diseases Network. Finding commonalities in rare diseases through the undiagnosed diseases network. J Am Med Inform Assoc 2021;28:1694-702. [PMID: 34009343 DOI: 10.1093/jamia/ocab050] [Reference Citation Analysis]
584 Murray CR, Abel SN, McClure MB, Foster J 2nd, Walke MI, Jayakar P, Bademci G, Tekin M. Novel Causative Variants in DYRK1A, KARS, and KAT6A Associated with Intellectual Disability and Additional Phenotypic Features. J Pediatr Genet 2017;6:77-83. [PMID: 28496994 DOI: 10.1055/s-0037-1598639] [Cited by in Crossref: 16] [Cited by in F6Publishing: 18] [Article Influence: 3.2] [Reference Citation Analysis]
585 Guo H, Bettella E, Marcogliese PC, Zhao R, Andrews JC, Nowakowski TJ, Gillentine MA, Hoekzema K, Wang T, Wu H, Jangam S, Liu C, Ni H, Willemsen MH, van Bon BW, Rinne T, Stevens SJC, Kleefstra T, Brunner HG, Yntema HG, Long M, Zhao W, Hu Z, Colson C, Richard N, Schwartz CE, Romano C, Castiglia L, Bottitta M, Dhar SU, Erwin DJ, Emrick L, Keren B, Afenjar A, Zhu B, Bai B, Stankiewicz P, Herman K, Mercimek-Andrews S, Juusola J, Wilfert AB, Abou Jamra R, Büttner B, Mefford HC, Muir AM, Scheffer IE, Regan BM, Malone S, Gecz J, Cobben J, Weiss MM, Waisfisz Q, Bijlsma EK, Hoffer MJV, Ruivenkamp CAL, Sartori S, Xia F, Rosenfeld JA, Bernier RA, Wangler MF, Yamamoto S, Xia K, Stegmann APA, Bellen HJ, Murgia A, Eichler EE; University of Washington Center for Mendelian Genomics. Disruptive mutations in TANC2 define a neurodevelopmental syndrome associated with psychiatric disorders. Nat Commun 2019;10:4679. [PMID: 31616000 DOI: 10.1038/s41467-019-12435-8] [Cited by in Crossref: 14] [Cited by in F6Publishing: 12] [Article Influence: 4.7] [Reference Citation Analysis]
586 Spangenberg L, Graña M, Greif G, Suarez-Rivero JM, Krysztal K, Tapié A, Boidi M, Fraga V, Lemes A, Gueçaimburú R, Cerisola A, Sánchez-Alcázar JA, Robello C, Raggio V, Naya H. 3697G>A in MT-ND1 is a causative mutation in mitochondrial disease. Mitochondrion 2016;28:54-9. [PMID: 27017994 DOI: 10.1016/j.mito.2016.03.006] [Cited by in Crossref: 8] [Cited by in F6Publishing: 7] [Article Influence: 1.3] [Reference Citation Analysis]
587 Vaxillaire M, Froguel P. Monogenic diabetes: Implementation of translational genomic research towards precision medicine. J Diabetes 2016;8:782-95. [PMID: 27390143 DOI: 10.1111/1753-0407.12446] [Cited by in Crossref: 25] [Cited by in F6Publishing: 20] [Article Influence: 4.2] [Reference Citation Analysis]
588 Rojnueangnit K, Sirichongkolthong B, Wongwandee R, Khetkham T, Noojarern S, Khongkraparn A, Wattanasirichaigoon D. Identification of Gene Mutations in Primary Pediatric Cardiomyopathy by Whole Exome Sequencing. Pediatr Cardiol 2020;41:165-74. [PMID: 31712860 DOI: 10.1007/s00246-019-02240-x] [Cited by in Crossref: 2] [Cited by in F6Publishing: 2] [Article Influence: 0.7] [Reference Citation Analysis]
589 Pauper M, Kucuk E, Wenger AM, Chakraborty S, Baybayan P, Kwint M, van der Sanden B, Nelen MR, Derks R, Brunner HG, Hoischen A, Vissers LELM, Gilissen C. Long-read trio sequencing of individuals with unsolved intellectual disability. Eur J Hum Genet 2021;29:637-48. [PMID: 33257779 DOI: 10.1038/s41431-020-00770-0] [Cited by in Crossref: 5] [Cited by in F6Publishing: 1] [Article Influence: 2.5] [Reference Citation Analysis]
590 Shashi V, Pena LD, Kim K, Burton B, Hempel M, Schoch K, Walkiewicz M, McLaughlin HM, Cho M, Stong N, Hickey SE, Shuss CM, Freemark MS, Bellet JS, Keels MA, Bonner MJ, El-Dairi M, Butler M, Kranz PG, Stumpel CT, Klinkenberg S, Oberndorff K, Alawi M, Santer R, Petrovski S, Kuismin O, Korpi-Heikkilä S, Pietilainen O, Aarno P, Kurki MI, Hoischen A, Need AC, Goldstein DB, Kortüm F; Undiagnosed Diseases Network. De Novo Truncating Variants in ASXL2 Are Associated with a Unique and Recognizable Clinical Phenotype. Am J Hum Genet 2016;99:991-9. [PMID: 27693232 DOI: 10.1016/j.ajhg.2016.08.017] [Cited by in Crossref: 35] [Cited by in F6Publishing: 32] [Article Influence: 5.8] [Reference Citation Analysis]
591 Alfares A, Aloraini T, subaie LA, Alissa A, Qudsi AA, Alahmad A, Mutairi FA, Alswaid A, Alothaim A, Eyaid W, Albalwi M, Alturki S, Alfadhel M. Whole-genome sequencing offers additional but limited clinical utility compared with reanalysis of whole-exome sequencing. Genet Med 2018;20:1328-33. [DOI: 10.1038/gim.2018.41] [Cited by in Crossref: 60] [Cited by in F6Publishing: 53] [Article Influence: 15.0] [Reference Citation Analysis]
592 Mullegama SV, Klein SD, Nguyen DC, Kim A, Signer R, Fox M, Dorrani N, Hendershot A, Mardach R, Suddath R, Dipple K, Vilain E, Wong DA, Deignan JL, D. Cederbaum S, Grody WW, Martinez-agosto JA. Is it time to retire fragile X testing as a first-tier test for developmental delay, intellectual disability, and autism spectrum disorder? Genet Med 2017;19:1380-1380. [DOI: 10.1038/gim.2017.146] [Cited by in Crossref: 11] [Cited by in F6Publishing: 5] [Article Influence: 2.2] [Reference Citation Analysis]
593 Kingsmore SF, Petrikin J, Willig LK, Guest E. Emergency medical genomes: a breakthrough application of precision medicine. Genome Med 2015;7:82. [PMID: 26229553 DOI: 10.1186/s13073-015-0201-z] [Cited by in Crossref: 16] [Cited by in F6Publishing: 13] [Article Influence: 2.3] [Reference Citation Analysis]
594 Liu G, Yang Z, Chen W, Xu J, Mao L, Yu Q, Guo J, Xu H, Liu F, Sun Y, Huang H, Peng Z, Sun J, Li W, Yang P. Novel missense variant in TTN cosegregating with familial atrioventricular block. Eur J Med Genet 2020;63:103752. [PMID: 31470098 DOI: 10.1016/j.ejmg.2019.103752] [Cited by in Crossref: 2] [Cited by in F6Publishing: 1] [Article Influence: 0.7] [Reference Citation Analysis]
595 Smith ED, Radtke K, Rossi M, Shinde DN, Darabi S, El-Khechen D, Powis Z, Helbig K, Waller K, Grange DK, Tang S, Farwell Hagman KD. Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017;38:600-608. [PMID: 28106320 DOI: 10.1002/humu.23183] [Cited by in Crossref: 50] [Cited by in F6Publishing: 42] [Article Influence: 10.0] [Reference Citation Analysis]
596 Massaad MJ, Zhou J, Tsuchimoto D, Chou J, Jabara H, Janssen E, Glauzy S, Olson BG, Morbach H, Ohsumi TK, Schmitz K, Kyriacos M, Kane J, Torisu K, Nakabeppu Y, Notarangelo LD, Chouery E, Megarbane A, Kang PB, Al-Idrissi E, Aldhekri H, Meffre E, Mizui M, Tsokos GC, Manis JP, Al-Herz W, Wallace SS, Geha RS. Deficiency of base excision repair enzyme NEIL3 drives increased predisposition to autoimmunity. J Clin Invest 2016;126:4219-36. [PMID: 27760045 DOI: 10.1172/JCI85647] [Cited by in Crossref: 40] [Cited by in F6Publishing: 30] [Article Influence: 6.7] [Reference Citation Analysis]
597 Ortiz RA, Witte S, Gouw A, Sanfilippo A, Tsai R, Fumagalli D, Yu C, Lant K, Lipitz N, Shepphird J, Alvina FB, Cheng-Ho Lin J. Engaging a Community for Rare Genetic Disease: Best Practices and Education From Individual Crowdfunding Campaigns. Interact J Med Res 2018;7:e3. [PMID: 29402763 DOI: 10.2196/ijmr.7176] [Cited by in Crossref: 4] [Cited by in F6Publishing: 3] [Article Influence: 1.0] [Reference Citation Analysis]
598 Chao YH, Robak LA, Xia F, Koenig MK, Adesina A, Bacino CA, Scaglia F, Bellen HJ, Wangler MF. Missense variants in the middle domain of DNM1L in cases of infantile encephalopathy alter peroxisomes and mitochondria when assayed in Drosophila. Hum Mol Genet 2016;25:1846-56. [PMID: 26931468 DOI: 10.1093/hmg/ddw059] [Cited by in Crossref: 41] [Cited by in F6Publishing: 38] [Article Influence: 6.8] [Reference Citation Analysis]
599 Dewey FE, Murray MF, Overton JD, Habegger L, Leader JB, Fetterolf SN, O'Dushlaine C, Van Hout CV, Staples J, Gonzaga-Jauregui C, Metpally R, Pendergrass SA, Giovanni MA, Kirchner HL, Balasubramanian S, Abul-Husn NS, Hartzel DN, Lavage DR, Kost KA, Packer JS, Lopez AE, Penn J, Mukherjee S, Gosalia N, Kanagaraj M, Li AH, Mitnaul LJ, Adams LJ, Person TN, Praveen K, Marcketta A, Lebo MS, Austin-Tse CA, Mason-Suares HM, Bruse S, Mellis S, Phillips R, Stahl N, Murphy A, Economides A, Skelding KA, Still CD, Elmore JR, Borecki IB, Yancopoulos GD, Davis FD, Faucett WA, Gottesman O, Ritchie MD, Shuldiner AR, Reid JG, Ledbetter DH, Baras A, Carey DJ. Distribution and clinical impact of functional variants in 50,726 whole-exome sequences from the DiscovEHR study. Science 2016;354:aaf6814. [PMID: 28008009 DOI: 10.1126/science.aaf6814] [Cited by in Crossref: 298] [Cited by in F6Publishing: 245] [Article Influence: 59.6] [Reference Citation Analysis]
600 Mukherjee K, Patel PA, Rajan DS, LaConte LEW, Srivastava S. Survival of a male patient harboring CASK Arg27Ter mutation to adolescence. Mol Genet Genomic Med 2020;8:e1426. [PMID: 32696595 DOI: 10.1002/mgg3.1426] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 0.5] [Reference Citation Analysis]
601 Reble E, Gutierrez Salazar M, Zakoor KR, Khalouei S, Clausen M, Kodida R, Shickh S, Mighton C, Cohn I, Schrader KA, Kim RH, Lerner-Ellis J, Bombard Y. Beyond medically actionable results: an analytical pipeline for decreasing the burden of returning all clinically significant secondary findings. Hum Genet 2021;140:493-504. [PMID: 32892247 DOI: 10.1007/s00439-020-02220-9] [Cited by in Crossref: 2] [Cited by in F6Publishing: 3] [Article Influence: 1.0] [Reference Citation Analysis]
602 Ba W, Yan Y, Reijnders MR, Schuurs-Hoeijmakers JH, Feenstra I, Bongers EM, Bosch DG, De Leeuw N, Pfundt R, Gilissen C, De Vries PF, Veltman JA, Hoischen A, Mefford HC, Eichler EE, Vissers LE, Nadif Kasri N, De Vries BB. TRIO loss of function is associated with mild intellectual disability and affects dendritic branching and synapse function. Hum Mol Genet 2016;25:892-902. [PMID: 26721934 DOI: 10.1093/hmg/ddv618] [Cited by in Crossref: 50] [Cited by in F6Publishing: 47] [Article Influence: 7.1] [Reference Citation Analysis]
603 Christensen KD, Vassy JL, Jamal L, Lehmann LS, Slashinski MJ, Perry DL, Robinson JO, Blumenthal-Barby J, Feuerman LZ, Murray MF, Green RC, McGuire AL; MedSeq Project Team. Are physicians prepared for whole genome sequencing? a qualitative analysis. Clin Genet 2016;89:228-34. [PMID: 26080898 DOI: 10.1111/cge.12626] [Cited by in Crossref: 74] [Cited by in F6Publishing: 68] [Article Influence: 10.6] [Reference Citation Analysis]
604 van den Veyver IB, Eng CM. Genome-Wide Sequencing for Prenatal Detection of Fetal Single-Gene Disorders. Cold Spring Harb Perspect Med 2015;5:a023077. [PMID: 26253094 DOI: 10.1101/cshperspect.a023077] [Cited by in Crossref: 29] [Cited by in F6Publishing: 24] [Article Influence: 4.1] [Reference Citation Analysis]
605 Alkhunaizi E, Walkiewicz MA, Chitayat D. Mutation in the ADNP gene associated with Noonan syndrome features. Clinical Dysmorphology 2018;27:53-7. [DOI: 10.1097/mcd.0000000000000215] [Cited by in Crossref: 3] [Article Influence: 0.8] [Reference Citation Analysis]
606 Butler MG, Rafi SK, Hossain W, Stephan DA, Manzardo AM. Whole exome sequencing in females with autism implicates novel and candidate genes. Int J Mol Sci 2015;16:1312-35. [PMID: 25574603 DOI: 10.3390/ijms16011312] [Cited by in Crossref: 57] [Cited by in F6Publishing: 48] [Article Influence: 8.1] [Reference Citation Analysis]
607 Jelin AC, Vora N. Whole Exome Sequencing: Applications in Prenatal Genetics. Obstet Gynecol Clin North Am 2018;45:69-81. [PMID: 29428287 DOI: 10.1016/j.ogc.2017.10.003] [Cited by in Crossref: 24] [Cited by in F6Publishing: 21] [Article Influence: 6.0] [Reference Citation Analysis]
608 Krier JB, Green RC. Management of Incidental Findings in Clinical Genomic Sequencing. Curr Protoc Hum Genet 2015;87:9.23.1-9.23.16. [PMID: 26439717 DOI: 10.1002/0471142905.hg0923s87] [Cited by in Crossref: 3] [Cited by in F6Publishing: 4] [Article Influence: 0.4] [Reference Citation Analysis]
609 Berauer JP, Mezina AI, Okou DT, Sabo A, Muzny DM, Gibbs RA, Hegde MR, Chopra P, Cutler DJ, Perlmutter DH, Bull LN, Thompson RJ, Loomes KM, Spinner NB, Rajagopalan R, Guthery SL, Moore B, Yandell M, Harpavat S, Magee JC, Kamath BM, Molleston JP, Bezerra JA, Murray KF, Alonso EM, Rosenthal P, Squires RH, Wang KS, Finegold MJ, Russo P, Sherker AH, Sokol RJ, Karpen SJ; Childhood Liver Disease Research Network (ChiLDReN). Identification of Polycystic Kidney Disease 1 Like 1 Gene Variants in Children With Biliary Atresia Splenic Malformation Syndrome. Hepatology 2019;70:899-910. [PMID: 30664273 DOI: 10.1002/hep.30515] [Cited by in Crossref: 21] [Cited by in F6Publishing: 20] [Article Influence: 7.0] [Reference Citation Analysis]
610 Skinner D, Raspberry KA, King M. The nuanced negative: Meanings of a negative diagnostic result in clinical exome sequencing. Sociol Health Illn 2016;38:1303-17. [PMID: 27538589 DOI: 10.1111/1467-9566.12460] [Cited by in Crossref: 43] [Cited by in F6Publishing: 36] [Article Influence: 7.2] [Reference Citation Analysis]
611 Burdick KJ, Cogan JD, Rives LC, Robertson AK, Koziura ME, Brokamp E, Duncan L, Hannig V, Pfotenhauer J, Vanzo R, Paul MS, Bican A, Morgan T, Duis J, Newman JH, Hamid R, Phillips JA 3rd; Undiagnosed Diseases Network. Limitations of exome sequencing in detecting rare and undiagnosed diseases. Am J Med Genet A 2020;182:1400-6. [PMID: 32190976 DOI: 10.1002/ajmg.a.61558] [Cited by in Crossref: 4] [Cited by in F6Publishing: 4] [Article Influence: 2.0] [Reference Citation Analysis]
612 Schneider KW, Suttman A, McKinney C, Giller R, Dollerschell K, Nakano TA. Incorporating genetic counseling into the evaluation of pediatric bone marrow failure. J Genet Couns 2021. [PMID: 34570941 DOI: 10.1002/jgc4.1510] [Reference Citation Analysis]
613 Clark MM, Stark Z, Farnaes L, Tan TY, White SM, Dimmock D, Kingsmore SF. Meta-analysis of the diagnostic and clinical utility of genome and exome sequencing and chromosomal microarray in children with suspected genetic diseases. NPJ Genom Med 2018;3:16. [PMID: 30002876 DOI: 10.1038/s41525-018-0053-8] [Cited by in Crossref: 186] [Cited by in F6Publishing: 147] [Article Influence: 46.5] [Reference Citation Analysis]
614 Lacy JN, Ulirsch JC, Grace RF, Towne MC, Hale J, Mohandas N, Lux SE 4th, Agrawal PB, Sankaran VG. Exome sequencing results in successful diagnosis and treatment of a severe congenital anemia. Cold Spring Harb Mol Case Stud 2016;2:a000885. [PMID: 27551681 DOI: 10.1101/mcs.a000885] [Cited by in Crossref: 6] [Cited by in F6Publishing: 7] [Article Influence: 1.0] [Reference Citation Analysis]
615 Park J, Levin MG, Haggerty CM, Hartzel DN, Judy R, Kember RL, Reza N, Ritchie MD, Owens AT, Damrauer SM, Rader DJ; Regeneron Genetics Center. A genome-first approach to aggregating rare genetic variants in LMNA for association with electronic health record phenotypes. Genet Med 2020;22:102-11. [PMID: 31383942 DOI: 10.1038/s41436-019-0625-8] [Cited by in Crossref: 21] [Cited by in F6Publishing: 15] [Article Influence: 7.0] [Reference Citation Analysis]
616 Gulati A, Somlo S. Whole exome sequencing: a state-of-the-art approach for defining (and exploring!) genetic landscapes in pediatric nephrology. Pediatr Nephrol 2018;33:745-61. [PMID: 28660367 DOI: 10.1007/s00467-017-3698-0] [Cited by in Crossref: 5] [Cited by in F6Publishing: 5] [Article Influence: 1.0] [Reference Citation Analysis]
617 Santiago-Sim T, Burrage LC, Ebstein F, Tokita MJ, Miller M, Bi W, Braxton AA, Rosenfeld JA, Shahrour M, Lehmann A, Cogné B, Küry S, Besnard T, Isidor B, Bézieau S, Hazart I, Nagakura H, Immken LL, Littlejohn RO, Roeder E, Kara B, Hardies K, Weckhuysen S, May P, Lemke JR, Elpeleg O, Abu-Libdeh B, James KN, Silhavy JL, Issa MY, Zaki MS, Gleeson JG, Seavitt JR, Dickinson ME, Ljungberg MC, Wells S, Johnson SJ, Teboul L, Eng CM, Yang Y, Kloetzel PM, Heaney JD, Walkiewicz MA; EuroEPINOMICS RES Consortium Autosomal Recessive working group, S. Hande Caglayan. Biallelic Variants in OTUD6B Cause an Intellectual Disability Syndrome Associated with Seizures and Dysmorphic Features. Am J Hum Genet 2017;100:676-88. [PMID: 28343629 DOI: 10.1016/j.ajhg.2017.03.001] [Cited by in Crossref: 31] [Cited by in F6Publishing: 25] [Article Influence: 6.2] [Reference Citation Analysis]
618 Du N, Dong D, Sun L, Che L, Li X, Liu Y, Wang B. Identification of ACOT13 and PTGER2 as novel candidate genes of autosomal dominant polycystic kidney disease through whole exome sequencing. Eur J Med Res 2021;26:142. [PMID: 34886911 DOI: 10.1186/s40001-021-00613-8] [Reference Citation Analysis]
619 Brockman DG, Austin-Tse CA, Pelletier RC, Harley C, Patterson C, Head H, Leonard CE, O'Brien K, Mahanta LM, Lebo MS, Lu CY, Natarajan P, Khera AV, Aragam KG, Kathiresan S, Rehm HL, Udler MS. Randomized prospective evaluation of genome sequencing versus standard-of-care as a first molecular diagnostic test. Genet Med 2021. [PMID: 33976420 DOI: 10.1038/s41436-021-01193-y] [Reference Citation Analysis]
620 Schwartz MLB, McCormick CZ, Lazzeri AL, Lindbuchler DM, Hallquist MLG, Manickam K, Buchanan AH, Rahm AK, Giovanni MA, Frisbie L, Flansburg CN, Davis FD, Sturm AC, Nicastro C, Lebo MS, Mason-Suares H, Mahanta LM, Carey DJ, Williams JL, Williams MS, Ledbetter DH, Faucett WA, Murray MF. A Model for Genome-First Care: Returning Secondary Genomic Findings to Participants and Their Healthcare Providers in a Large Research Cohort. Am J Hum Genet 2018;103:328-37. [PMID: 30100086 DOI: 10.1016/j.ajhg.2018.07.009] [Cited by in Crossref: 69] [Cited by in F6Publishing: 53] [Article Influence: 17.3] [Reference Citation Analysis]
621 De Bernardi ML, Ivanovski I, Caraffi SG, Maini I, Street ME, Bayat A, Zollino M, Lepri FR, Gnazzo M, Errichiello E, Superti‐furga A, Garavelli L. Prominent and elongated coccyx, a new manifestation of KBG syndrome associated with novel mutation in ANKRD11. Am J Med Genet 2018;176:1991-5. [DOI: 10.1002/ajmg.a.40386] [Cited by in Crossref: 3] [Cited by in F6Publishing: 3] [Article Influence: 0.8] [Reference Citation Analysis]
622 Almlöf JC, Nystedt S, Mechtidou A, Leonard D, Eloranta ML, Grosso G, Sjöwall C, Bengtsson AA, Jönsen A, Gunnarsson I, Svenungsson E, Rönnblom L, Sandling JK, Syvänen AC. Contributions of de novo variants to systemic lupus erythematosus. Eur J Hum Genet 2021;29:184-93. [PMID: 32724065 DOI: 10.1038/s41431-020-0698-5] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 0.5] [Reference Citation Analysis]
623 Strauss KA, Gonzaga-Jauregui C, Brigatti KW, Williams KB, King AK, Van Hout C, Robinson DL, Young M, Praveen K, Heaps AD, Kuebler M, Baras A, Reid JG, Overton JD, Dewey FE, Jinks RN, Finnegan I, Mellis SJ, Shuldiner AR, Puffenberger EG. Genomic diagnostics within a medically underserved population: efficacy and implications. Genet Med 2018;20:31-41. [PMID: 28726809 DOI: 10.1038/gim.2017.76] [Cited by in Crossref: 28] [Cited by in F6Publishing: 23] [Article Influence: 5.6] [Reference Citation Analysis]
624 Halvardson J, Zhao JJ, Zaghlool A, Wentzel C, Georgii-Hemming P, Månsson E, Ederth Sävmarker H, Brandberg G, Soussi Zander C, Thuresson AC, Feuk L. Mutations in HECW2 are associated with intellectual disability and epilepsy. J Med Genet 2016;53:697-704. [PMID: 27334371 DOI: 10.1136/jmedgenet-2016-103814] [Cited by in Crossref: 34] [Cited by in F6Publishing: 32] [Article Influence: 5.7] [Reference Citation Analysis]
625 Nambot S, Gavrilov D, Thevenon J, Bruel A, Bainbridge M, Rio M, Goizet C, Rötig A, Jaeken J, Niu N, Xia F, Vital A, Houcinat N, Mochel F, Kuentz P, Lehalle D, Duffourd Y, Rivière J, Thauvin-robinet C, Beaudet A, Faivre L. Further delineation of a rare recessive encephalomyopathy linked to mutations in GFER thanks to data sharing of whole exome sequencing data: NAMBOT et al . Clin Genet 2017;92:188-98. [DOI: 10.1111/cge.12985] [Cited by in Crossref: 14] [Cited by in F6Publishing: 13] [Article Influence: 2.8] [Reference Citation Analysis]
626 Farrell M, Lichtenstein M, Crowley JJ, Filmyer DM, Lázaro-Muñoz G, Shaughnessy RA, Mackenzie IR, Hirsch-Reinshagen V, Stowe R, Evans JP, Berg JS, Szatkiewicz J, Josiassen RC, Sullivan PF. Developmental Delay, Treatment-Resistant Psychosis, and Early-Onset Dementia in a Man With 22q11 Deletion Syndrome and Huntington's Disease. Am J Psychiatry 2018;175:400-7. [PMID: 29712475 DOI: 10.1176/appi.ajp.2017.17060638] [Cited by in Crossref: 6] [Cited by in F6Publishing: 5] [Article Influence: 2.0] [Reference Citation Analysis]
627 Farouk Sait S, Walsh MF, Karajannis MA. Genetic syndromes predisposing to pediatric brain tumors. Neurooncol Pract 2021;8:375-90. [PMID: 34277017 DOI: 10.1093/nop/npab012] [Reference Citation Analysis]
628 Mallett AJ, McCarthy HJ, Ho G, Holman K, Farnsworth E, Patel C, Fletcher JT, Mallawaarachchi A, Quinlan C, Bennetts B, Alexander SI. Massively parallel sequencing and targeted exomes in familial kidney disease can diagnose underlying genetic disorders. Kidney Int 2017;92:1493-506. [PMID: 28844315 DOI: 10.1016/j.kint.2017.06.013] [Cited by in Crossref: 44] [Cited by in F6Publishing: 32] [Article Influence: 8.8] [Reference Citation Analysis]
629 Bhar S, Zhou F, Reineke LC, Morris DK, Khincha PP, Giri N, Mirabello L, Bergstrom K, Lemon LD, Williams CL, Toh Y, Elghetany MT, Lloyd RE, Alter BP, Savage SA, Bertuch AA. Expansion of germline RPS20 mutation phenotype to include Diamond-Blackfan anemia. Hum Mutat 2020;41:1918-30. [PMID: 32790018 DOI: 10.1002/humu.24092] [Cited by in Crossref: 3] [Cited by in F6Publishing: 1] [Article Influence: 1.5] [Reference Citation Analysis]
630 [DOI: 10.1101/074153] [Cited by in Crossref: 20] [Cited by in F6Publishing: 3] [Reference Citation Analysis]
631 Mwesigwa S, Moulds JM, Chen A, Flanagan J, Sheehan VA, George A, Hanchard NA. Whole-exome sequencing of sickle cell disease patients with hyperhemolysis syndrome suggests a role for rare variation in disease predisposition. Transfusion 2018;58:726-35. [PMID: 29210071 DOI: 10.1111/trf.14431] [Cited by in Crossref: 10] [Cited by in F6Publishing: 9] [Article Influence: 2.0] [Reference Citation Analysis]
632 Dragojlovic N, Elliott AM, Adam S, van Karnebeek C, Lehman A, Mwenifumbo JC, Nelson TN, du Souich C, Friedman JM, Lynd LD. The cost and diagnostic yield of exome sequencing for children with suspected genetic disorders: a benchmarking study. Genet Med 2018;20:1013-21. [PMID: 29300375 DOI: 10.1038/gim.2017.226] [Cited by in Crossref: 45] [Cited by in F6Publishing: 39] [Article Influence: 11.3] [Reference Citation Analysis]
633 Jagadeesh KA, Wenger AM, Berger MJ, Guturu H, Stenson PD, Cooper DN, Bernstein JA, Bejerano G. M-CAP eliminates a majority of variants of uncertain significance in clinical exomes at high sensitivity. Nat Genet 2016;48:1581-6. [PMID: 27776117 DOI: 10.1038/ng.3703] [Cited by in Crossref: 384] [Cited by in F6Publishing: 335] [Article Influence: 64.0] [Reference Citation Analysis]
634 Katsanis N. The continuum of causality in human genetic disorders. Genome Biol 2016;17:233. [PMID: 27855690 DOI: 10.1186/s13059-016-1107-9] [Cited by in Crossref: 77] [Cited by in F6Publishing: 61] [Article Influence: 12.8] [Reference Citation Analysis]
635 Petrovski S, Aggarwal V, Giordano JL, Stosic M, Wou K, Bier L, Spiegel E, Brennan K, Stong N, Jobanputra V, Ren Z, Zhu X, Mebane C, Nahum O, Wang Q, Kamalakaran S, Malone C, Anyane-Yeboa K, Miller R, Levy B, Goldstein DB, Wapner RJ. Whole-exome sequencing in the evaluation of fetal structural anomalies: a prospective cohort study. Lancet 2019;393:758-67. [PMID: 30712878 DOI: 10.1016/S0140-6736(18)32042-7] [Cited by in Crossref: 137] [Cited by in F6Publishing: 47] [Article Influence: 45.7] [Reference Citation Analysis]
636 Zhao A, Shen J, Ding Y, Sheng M, Zuo M, Lv H, Wang J, Shen Y, Wang H, Sun L. Long-read sequencing identified a novel nonsense and a de novo missense of PPA2 in trans in a Chinese patient with autosomal recessive infantile sudden cardiac failure. Clin Chim Acta 2021;519:163-71. [PMID: 33826954 DOI: 10.1016/j.cca.2021.03.029] [Cited by in Crossref: 1] [Article Influence: 1.0] [Reference Citation Analysis]
637 Jaganathan K, Kyriazopoulou Panagiotopoulou S, Mcrae JF, Darbandi SF, Knowles D, Li YI, Kosmicki JA, Arbelaez J, Cui W, Schwartz GB, Chow ED, Kanterakis E, Gao H, Kia A, Batzoglou S, Sanders SJ, Farh KK. Predicting Splicing from Primary Sequence with Deep Learning. Cell 2019;176:535-548.e24. [DOI: 10.1016/j.cell.2018.12.015] [Cited by in Crossref: 392] [Cited by in F6Publishing: 282] [Article Influence: 130.7] [Reference Citation Analysis]
638 Westerfield LE, Stover SR, Mathur VS, Nassef SA, Carter TG, Yang Y, Eng CM, Van den Veyver IB. Reproductive genetic counseling challenges associated with diagnostic exome sequencing in a large academic private reproductive genetic counseling practice. Prenat Diagn 2015;35:1022-9. [PMID: 26275793 DOI: 10.1002/pd.4674] [Cited by in Crossref: 37] [Cited by in F6Publishing: 29] [Article Influence: 5.3] [Reference Citation Analysis]
639 Dong J, Williams N, Cerrone M, Borck C, Wang D, Zhou B, Eng LS, Subbotina E, Um SY, Lin Y, Ruiter K, Rojas L, Coetzee WA, Sampson BA, Tang Y. Molecular autopsy: using the discovery of a novel de novo pathogenic variant in the KCNH2 gene to inform healthcare of surviving family. Heliyon 2018;4:e01015. [PMID: 30582040 DOI: 10.1016/j.heliyon.2018.e01015] [Cited by in Crossref: 2] [Cited by in F6Publishing: 2