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For: 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]
Number Citing Articles
1 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]
2 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]
3 McConkie-Rosell A, Schoch K, Sullivan J, Cope H, Spillmann R, Palmer CGS, Pena L, Jiang YH, Daniels N, Walley N, Tan KG, Hooper SR, Shashi V; Undiagnosed Diseases Network. The genome empowerment scale: An assessment of parental empowerment in families with undiagnosed disease. Clin Genet 2019;96:521-31. [PMID: 31448412 DOI: 10.1111/cge.13635] [Cited by in Crossref: 4] [Cited by in F6Publishing: 3] [Article Influence: 1.3] [Reference Citation Analysis]
4 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]
5 Kuiper JM, Borry P, Vears DF, Van Hoyweghen I. The social shaping of a diagnosis in Next Generation Sequencing. New Genetics and Society 2021;40:425-48. [DOI: 10.1080/14636778.2020.1853514] [Reference Citation Analysis]
6 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]
7 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]
8 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]
9 Barp A, Mosca L, Sansone VA. Facilitations and Hurdles of Genetic Testing in Neuromuscular Disorders. Diagnostics (Basel) 2021;11:701. [PMID: 33919863 DOI: 10.3390/diagnostics11040701] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 1.0] [Reference Citation Analysis]
10 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]
11 Schoch K, Tan QK, Stong N, Deak KL, McConkie-Rosell A, McDonald MT, Goldstein DB, Jiang YH, Shashi V; Undiagnosed Diseases Network. Alternative transcripts in variant interpretation: the potential for missed diagnoses and misdiagnoses. Genet Med 2020;22:1269-75. [PMID: 32366967 DOI: 10.1038/s41436-020-0781-x] [Cited by in Crossref: 3] [Cited by in F6Publishing: 3] [Article Influence: 1.5] [Reference Citation Analysis]
12 Merrill SL, Guthrie KJ. Is it Time for Genomic Counseling? Retrofitting Genetic Counseling for the Era of Genomic Medicine. Curr Genet Med Rep 2015;3:57-64. [DOI: 10.1007/s40142-015-0068-8] [Cited by in Crossref: 6] [Article Influence: 0.9] [Reference Citation Analysis]
13 Mallawaarachchi A, Collins F. Testing the Complex Child: CGH Array, WES, Clinical Exome, WGS. Curr Pediatr Rep 2016;4:155-63. [DOI: 10.1007/s40124-016-0111-6] [Reference Citation Analysis]
14 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]
15 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]
16 Krenn M, Tomschik M, Rath J, Cetin H, Grisold A, Zulehner G, Milenkovic I, Stogmann E, Zimprich A, Strom TM, Meitinger T, Wagner M, Zimprich F. Genotype-guided diagnostic reassessment after exome sequencing in neuromuscular disorders: experiences with a two-step approach. Eur J Neurol 2020;27:51-61. [PMID: 31407473 DOI: 10.1111/ene.14033] [Cited by in Crossref: 4] [Cited by in F6Publishing: 3] [Article Influence: 1.3] [Reference Citation Analysis]
17 Stivers T, Timmermans S. The Actionability of Exome sequencing testing results. Sociol Health Illn 2017;39:1542-56. [DOI: 10.1111/1467-9566.12614] [Cited by in Crossref: 16] [Cited by in F6Publishing: 12] [Article Influence: 3.2] [Reference Citation Analysis]
18 Groopman EE, Rasouly HM, Gharavi AG. Genomic medicine for kidney disease. Nat Rev Nephrol 2018;14:83-104. [PMID: 29307893 DOI: 10.1038/nrneph.2017.167] [Cited by in Crossref: 50] [Cited by in F6Publishing: 44] [Article Influence: 12.5] [Reference Citation Analysis]
19 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]
20 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]
21 Elliott AM. Genetic Counseling and Genome Sequencing in Pediatric Rare Disease. Cold Spring Harb Perspect Med 2020;10:a036632. [PMID: 31501267 DOI: 10.1101/cshperspect.a036632] [Cited by in Crossref: 2] [Cited by in F6Publishing: 1] [Article Influence: 1.0] [Reference Citation Analysis]
22 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]
23 Baldridge D, Heeley J, Vineyard M, Manwaring L, Toler TL, Fassi E, Fiala E, Brown S, Goss CW, Willing M, Grange DK, Kozel BA, Shinawi M. The Exome Clinic and the role of medical genetics expertise in the interpretation of exome sequencing results. Genet Med 2017;19:1040-8. [PMID: 28252636 DOI: 10.1038/gim.2016.224] [Cited by in Crossref: 51] [Cited by in F6Publishing: 43] [Article Influence: 10.2] [Reference Citation Analysis]
24 Stanwyck LK, Place EM, Comander J, Huckfeldt RM, Sobrin L. Predictive value of genetic testing for inherited retinal diseases in patients with suspected atypical autoimmune retinopathy. Am J Ophthalmol Case Rep 2019;15:100461. [PMID: 31193260 DOI: 10.1016/j.ajoc.2019.100461] [Cited by in Crossref: 4] [Cited by in F6Publishing: 2] [Article Influence: 1.3] [Reference Citation Analysis]
25 Sullivan JA, Stong N, Baugh EH, McDonald MT, Takeuchi A, Shashi V. A pathogenic variant in the SETBP1 hotspot results in a forme-fruste Schinzel-Giedion syndrome. Am J Med Genet A 2020;182:1947-51. [PMID: 32445275 DOI: 10.1002/ajmg.a.61630] [Cited by in Crossref: 2] [Cited by in F6Publishing: 2] [Article Influence: 1.0] [Reference Citation Analysis]
26 Bertier G, Hétu M, Joly Y. Unsolved challenges of clinical whole-exome sequencing: a systematic literature review of end-users' views. BMC Med Genomics 2016;9:52. [PMID: 27514372 DOI: 10.1186/s12920-016-0213-6] [Cited by in Crossref: 34] [Cited by in F6Publishing: 33] [Article Influence: 5.7] [Reference Citation Analysis]
27 Wang X, Shen X, Fang F, Ding CH, Zhang H, Cao ZH, An DY. Phenotype-Driven Virtual Panel Is an Effective Method to Analyze WES Data of Neurological Disease. Front Pharmacol 2018;9:1529. [PMID: 30687093 DOI: 10.3389/fphar.2018.01529] [Cited by in Crossref: 8] [Cited by in F6Publishing: 8] [Article Influence: 2.7] [Reference Citation Analysis]
28 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]
29 Loddo I, Romano C. Inflammatory Bowel Disease: Genetics, Epigenetics, and Pathogenesis. Front Immunol. 2015;6:551. [PMID: 26579126 DOI: 10.3389/fimmu.2015.00551] [Cited by in Crossref: 166] [Cited by in F6Publishing: 142] [Article Influence: 23.7] [Reference Citation Analysis]
30 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]
31 Bertier G, Sénécal K, Borry P, Vears DF. Unsolved challenges in pediatric whole-exome sequencing: A literature analysis. Crit Rev Clin Lab Sci 2017;54:134-42. [PMID: 28132577 DOI: 10.1080/10408363.2016.1275516] [Cited by in Crossref: 16] [Cited by in F6Publishing: 12] [Article Influence: 3.2] [Reference Citation Analysis]
32 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]
33 Li X, Nusbaum R, Smith-Hicks C, Jamal L, Dixon S, Mahida S. Caregivers' perception of and experience with variants of uncertain significance from whole exome sequencing for children with undiagnosed conditions. J Genet Couns 2019;28:304-12. [PMID: 30680845 DOI: 10.1002/jgc4.1093] [Cited by in Crossref: 8] [Cited by in F6Publishing: 8] [Article Influence: 2.7] [Reference Citation Analysis]
34 Ślęczkowska M, Almomani R, Marchi M, de Greef BTA, Sopacua M, Hoeijmakers JGJ, Lindsey P, Salvi E, Bönhof GJ, Ziegler D, Malik RA, Waxman SG, Lauria G, Faber CG, Smeets HJM, Gerrits MM. Peripheral Ion Channel Gene Screening in Painful- and Painless-Diabetic Neuropathy. IJMS 2022;23:7190. [DOI: 10.3390/ijms23137190] [Reference Citation Analysis]
35 Adam S, Friedman JM. Controversy and debate on clinical genomics sequencing-paper 2: clinical genome-wide sequencing: don't throw out the baby with the bathwater! J Clin Epidemiol 2017;92:7-10. [PMID: 28916491 DOI: 10.1016/j.jclinepi.2017.08.020] [Reference Citation Analysis]
36 Maxwell KN, Hart SN, Vijai J, Schrader KA, Slavin TP, Thomas T, Wubbenhorst B, Ravichandran V, Moore RM, Hu C, Guidugli L, Wenz B, Domchek SM, Robson ME, Szabo C, Neuhausen SL, Weitzel JN, Offit K, Couch FJ, Nathanson KL. Evaluation of ACMG-Guideline-Based Variant Classification of Cancer Susceptibility and Non-Cancer-Associated Genes in Families Affected by Breast Cancer. Am J Hum Genet 2016;98:801-17. [PMID: 27153395 DOI: 10.1016/j.ajhg.2016.02.024] [Cited by in Crossref: 84] [Cited by in F6Publishing: 82] [Article Influence: 14.0] [Reference Citation Analysis]
37 Macklin S, Laney D, Lisi E, Atherton A, Smith E. The Psychosocial Impact of Carrying a Debated Variant in the GLA Gene. J Genet Counsel 2018;27:217-24. [DOI: 10.1007/s10897-017-0139-y] [Cited by in Crossref: 8] [Cited by in F6Publishing: 6] [Article Influence: 1.6] [Reference Citation Analysis]