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For: Srivastava S, Cohen JS, Vernon H, Barañano K, McClellan R, Jamal L, Naidu S, Fatemi A. Clinical whole exome sequencing in child neurology practice. Ann Neurol 2014;76:473-83. [PMID: 25131622 DOI: 10.1002/ana.24251] [Cited by in Crossref: 163] [Cited by in F6Publishing: 144] [Article Influence: 20.4] [Reference Citation Analysis]
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7 Mintz M. Evolution in the Understanding of Autism Spectrum Disorder: Historical Perspective. Indian J Pediatr 2017;84:44-52. [PMID: 27053182 DOI: 10.1007/s12098-016-2080-8] [Cited by in Crossref: 9] [Cited by in F6Publishing: 4] [Article Influence: 1.5] [Reference Citation Analysis]
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11 Cuddapah VA, Dubbs HA, Adang L, Kugler SL, McCormick EM, Zolkipli-Cunningham Z, Ortiz-González XR, McCormack S, Zackai E, Licht DJ, Falk MJ, Marsh ED. Understanding the phenotypic spectrum of ASXL-related disease: Ten cases and a review of the literature. Am J Med Genet A 2021;185:1700-11. [PMID: 33751773 DOI: 10.1002/ajmg.a.62156] [Cited by in Crossref: 2] [Cited by in F6Publishing: 1] [Article Influence: 2.0] [Reference Citation Analysis]
12 Mu W, Schiess N, Orthmann-Murphy JL, El-Hattab AW. The utility of whole exome sequencing in diagnosing neurological disorders in adults from a highly consanguineous population. J Neurogenet 2019;33:21-6. [PMID: 30724636 DOI: 10.1080/01677063.2018.1555249] [Cited by in Crossref: 3] [Cited by in F6Publishing: 2] [Article Influence: 1.0] [Reference Citation Analysis]
13 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]
14 Urreizti R, Gürsoy S, Castilla-Vallmanya L, Cunill G, Rabionet R, Erçal D, Grinberg D, Balcells S. The ASXL1 mutation p.Gly646Trpfs*12 found in a Turkish boy with Bohring-Opitz Syndrome. Clin Case Rep 2018;6:1452-6. [PMID: 30147881 DOI: 10.1002/ccr3.1603] [Cited by in Crossref: 3] [Cited by in F6Publishing: 4] [Article Influence: 0.8] [Reference Citation Analysis]
15 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]
16 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]
17 Ebrahimi-fakhari D, Saffari A, Westenberger A, Klein C. The evolving spectrum of PRRT2 -associated paroxysmal diseases. Brain 2015;138:3476-95. [DOI: 10.1093/brain/awv317] [Cited by in Crossref: 132] [Cited by in F6Publishing: 117] [Article Influence: 18.9] [Reference Citation Analysis]
18 Bis-Brewer DM, Züchner S. Perspectives on the Genomics of HSP Beyond Mendelian Inheritance. Front Neurol 2018;9:958. [PMID: 30534106 DOI: 10.3389/fneur.2018.00958] [Cited by in Crossref: 13] [Cited by in F6Publishing: 11] [Article Influence: 3.3] [Reference Citation Analysis]
19 Chopra M, Gable DL, Love‐nichols J, Tsao A, Rockowitz S, Sliz P, Barkoudah E, Bastianelli L, Coulter D, Davidson E, Degusmao C, Fogelman D, Huth K, Marshall P, Nimec D, Sanders JS, Shore BJ, Snyder B, Stone SSD, Ubeda A, Watkins C, Berde C, Bolton J, Brownstein C, Costigan M, Ebrahimi‐fakhari D, Lai A, O'donnell‐luria A, Paciorkowski AR, Pinto A, Pugh J, Rodan L, Roe E, Swanson L, Zhang B, Kruer MC, Sahin M, Poduri A, Srivastava S. Mendelian etiologies identified with whole exome sequencing in cerebral palsy. Ann Clin Transl Neurol. [DOI: 10.1002/acn3.51506] [Reference Citation Analysis]
20 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]
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22 Cotta A, Alston CL, Baptista-Junior S, Paim JF, Carvalho E, Navarro MM, Appleton M, Ng YS, Valicek J, da-Cunha-Junior AL, Lima MI, de la Rocque Ferreira A, Takata RI, Hargreaves IP, Gorman GS, McFarland R, Pierre G, Taylor RW. Early-onset coenzyme Q10 deficiency associated with ataxia and respiratory chain dysfunction due to novel pathogenic COQ8A variants, including a large intragenic deletion. JIMD Rep 2020;54:45-53. [PMID: 32685350 DOI: 10.1002/jmd2.12107] [Cited by in Crossref: 2] [Article Influence: 1.0] [Reference Citation Analysis]
23 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]
24 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]
25 Rocha H, Sampaio M, Rocha R, Fernandes S, Leão M. MEF2C haploinsufficiency syndrome: Report of a new MEF2C mutation and review. European Journal of Medical Genetics 2016;59:478-82. [DOI: 10.1016/j.ejmg.2016.05.017] [Cited by in Crossref: 37] [Cited by in F6Publishing: 32] [Article Influence: 6.2] [Reference Citation Analysis]
26 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]
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28 Chennagiri N, White EJ, Frieden A, Lopez E, Lieber DS, Nikiforov A, Ross T, Batorsky R, Hansen S, Lip V, Luquette LJ, Mauceli E, Margulies D, Milos PM, Napolitano N, Nizzari MM, Yu T, Thompson JF. Orthogonal NGS for High Throughput Clinical Diagnostics. Sci Rep 2016;6:24650. [PMID: 27090146 DOI: 10.1038/srep24650] [Cited by in Crossref: 11] [Cited by in F6Publishing: 8] [Article Influence: 1.8] [Reference Citation Analysis]
29 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]
30 Shevell M. The evolution of our understanding of the conceptualization and genetics of cerebral palsy: Implications for genetic testing. Molecular Genetics and Metabolism 2020. [DOI: 10.1016/j.ymgme.2020.12.294] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 0.5] [Reference Citation Analysis]
31 Carey AS, Chung WK. Genomic Sequencing for Infants and Children in Intensive Care Units. Curr Pediatr Rep 2019;7:78-82. [DOI: 10.1007/s40124-019-00196-3] [Reference Citation Analysis]
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33 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]
34 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]
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40 Kirmiz M, Gillies TE, Dickson EJ, Trimmer JS. Neuronal ER-plasma membrane junctions organized by Kv2-VAP pairing recruit Nir proteins and affect phosphoinositide homeostasis. J Biol Chem 2019;294:17735-57. [PMID: 31594866 DOI: 10.1074/jbc.RA119.007635] [Cited by in Crossref: 10] [Cited by in F6Publishing: 6] [Article Influence: 3.3] [Reference Citation Analysis]
41 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]
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47 Griffin H, Pyle A, Chinnery PF. Increased yield of exome sequencing by off-target mitochondrial DNA analysis. Ann Neurol 2015;77:553. [PMID: 25611826 DOI: 10.1002/ana.24360] [Cited by in Crossref: 1] [Article Influence: 0.1] [Reference Citation Analysis]
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49 Meerschaut I, Rochefort D, Revençu N, Pètre J, Corsello C, Rouleau GA, Hamdan FF, Michaud JL, Morton J, Radley J, Ragge N, García-Miñaúr S, Lapunzina P, Bralo MP, Mori MÁ, Moortgat S, Benoit V, Mary S, Bockaert N, Oostra A, Vanakker O, Velinov M, de Ravel TJ, Mekahli D, Sebat J, Vaux KK, DiDonato N, Hanson-Kahn AK, Hudgins L, Dallapiccola B, Novelli A, Tarani L, Andrieux J, Parker MJ, Neas K, Ceulemans B, Schoonjans AS, Prchalova D, Havlovicova M, Hancarova M, Budisteanu M, Dheedene A, Menten B, Dion PA, Lederer D, Callewaert B. FOXP1-related intellectual disability syndrome: a recognisable entity. J Med Genet 2017;54:613-23. [PMID: 28735298 DOI: 10.1136/jmedgenet-2017-104579] [Cited by in Crossref: 28] [Cited by in F6Publishing: 23] [Article Influence: 5.6] [Reference Citation Analysis]
50 Rousseau M, Baumstarck K, Khaldi-cherif N, Felce A, Valkov M, Brisse C, Loundou A, Auquier P, Billette de villemeur T. Health issues in polyhandicapped patients according to age: Results of a large French cross-sectional study. Revue Neurologique 2020;176:370-9. [DOI: 10.1016/j.neurol.2019.10.006] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 0.5] [Reference Citation Analysis]
51 Friedman JM, van Essen P, van Karnebeek CDM. Cerebral palsy and related neuromotor disorders: Overview of genetic and genomic studies. Mol Genet Metab 2021:S1096-7192(21)00819-2. [PMID: 34872807 DOI: 10.1016/j.ymgme.2021.11.001] [Reference Citation Analysis]
52 Santos-Cortez RLP, Khan V, Khan FS, Mughal ZU, Chakchouk I, Lee K, Rasheed M, Hamza R, Acharya A, Ullah E, Saqib MAN, Abbe I, Ali G, Hassan MJ, Khan S, Azeem Z, Ullah I, Bamshad MJ, Nickerson DA, Schrauwen I, Ahmad W, Ansar M, Leal SM. Novel candidate genes and variants underlying autosomal recessive neurodevelopmental disorders with intellectual disability. Hum Genet 2018;137:735-52. [PMID: 30167849 DOI: 10.1007/s00439-018-1928-6] [Cited by in Crossref: 16] [Cited by in F6Publishing: 15] [Article Influence: 4.0] [Reference Citation Analysis]
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