COSMIC: high‐resolution cancer genetics using the catalogue of somatic mutations in cancer SA Forbes, D Beare, N Bindal, S Bamford, S Ward, CG Cole, M Jia, C Kok, ... Current protocols in human genetics 91 (1), 10.11. 1-10.11. 37, 2016 | 886 | 2016 |
Use of exome sequencing for infants in intensive care units: ascertainment of severe single-gene disorders and effect on medical management L Meng, M Pammi, A Saronwala, P Magoulas, AR Ghazi, F Vetrini, ... JAMA pediatrics 171 (12), e173438-e173438, 2017 | 426 | 2017 |
Identification of rare-disease genes using blood transcriptome sequencing and large control cohorts L Frésard, C Smail, NM Ferraro, NA Teran, X Li, KS Smith, D Bonner, ... Nature medicine 25 (6), 911-919, 2019 | 284 | 2019 |
MARRVEL: integration of human and model organism genetic resources to facilitate functional annotation of the human genome J Wang, R Al-Ouran, Y Hu, SY Kim, YW Wan, MF Wangler, S Yamamoto, ... The American Journal of Human Genetics 100 (6), 843-853, 2017 | 183 | 2017 |
The undiagnosed diseases network: accelerating discovery about health and disease RB Ramoni, JJ Mulvihill, DR Adams, P Allard, EA Ashley, JA Bernstein, ... The American Journal of Human Genetics 100 (2), 185-192, 2017 | 160 | 2017 |
Heterozygous truncating variants in POMP escape nonsense-mediated decay and cause a unique immune dysregulatory syndrome MC Poli, F Ebstein, SK Nicholas, MM de Guzman, LR Forbes, IK Chinn, ... The American Journal of Human Genetics 102 (6), 1126-1142, 2018 | 152 | 2018 |
Recurrent muscle weakness with rhabdomyolysis, metabolic crises, and cardiac arrhythmia due to bi-allelic TANGO2 mutations SR Lalani, P Liu, JA Rosenfeld, LB Watkin, T Chiang, MS Leduc, W Zhu, ... The American Journal of Human Genetics 98 (2), 347-357, 2016 | 127 | 2016 |
A syndromic neurodevelopmental disorder caused by de novo variants in EBF3 HT Chao, M Davids, E Burke, JG Pappas, JA Rosenfeld, AJ McCarty, ... The American Journal of Human Genetics 100 (1), 128-137, 2017 | 116 | 2017 |
Mutations in PURA cause profound neonatal hypotonia, seizures, and encephalopathy in 5q31. 3 microdeletion syndrome SR Lalani, J Zhang, CP Schaaf, CW Brown, P Magoulas, ACH Tsai, ... The American Journal of Human Genetics 95 (5), 579-583, 2014 | 110 | 2014 |
IRF2BPL is associated with neurological phenotypes PC Marcogliese, V Shashi, RC Spillmann, N Stong, JA Rosenfeld, ... The American Journal of Human Genetics 103 (2), 245-260, 2018 | 98 | 2018 |
De novo GMNN mutations cause autosomal-dominant primordial dwarfism associated with Meier-Gorlin syndrome LC Burrage, WL Charng, MK Eldomery, JR Willer, EE Davis, ... The American Journal of Human Genetics 97 (6), 904-913, 2015 | 83 | 2015 |
ClinPhen extracts and prioritizes patient phenotypes directly from medical records to expedite genetic disease diagnosis CA Deisseroth, J Birgmeier, EE Bodle, JN Kohler, DR Matalon, ... Genetics in Medicine 21 (7), 1585-1593, 2019 | 82 | 2019 |
A comprehensive iterative approach is highly effective in diagnosing individuals who are exome negative V Shashi, K Schoch, R Spillmann, H Cope, QKG Tan, N Walley, L Pena, ... Genetics in Medicine 21 (1), 161-172, 2019 | 80 | 2019 |
Expanding the spectrum of BAF-related disorders: de novo variants in SMARCC2 cause a syndrome with intellectual disability and developmental delay K Machol, J Rousseau, S Ehresmann, T Garcia, TTM Nguyen, ... The American Journal of Human Genetics 104 (1), 164-178, 2019 | 78 | 2019 |
Bi-allelic mutations in PKD1L1 are associated with laterality defects in humans F Vetrini, LCA D’Alessandro, ZC Akdemir, A Braxton, MS Azamian, ... The American Journal of Human Genetics 99 (4), 886-893, 2016 | 77 | 2016 |
Biallelic mutations in ATP5F1D, which encodes a subunit of ATP synthase, cause a metabolic disorder M Oláhová, WH Yoon, K Thompson, S Jangam, L Fernandez, ... The American Journal of Human Genetics 102 (3), 494-504, 2018 | 74 | 2018 |
Limitations of exome sequencing in detecting rare and undiagnosed diseases KJ Burdick, JD Cogan, LC Rives, AK Robertson, ME Koziura, E Brokamp, ... American Journal of Medical genetics Part A 182 (6), 1400-1406, 2020 | 73 | 2020 |
De novo variants in the ATPase module of MORC2 cause a neurodevelopmental disorder with growth retardation and variable craniofacial dysmorphism MJG Sacoto, IA Tchasovnikarova, E Torti, C Forster, EH Andrew, I Anselm, ... The American Journal of Human Genetics 107 (2), 352-363, 2020 | 71 | 2020 |
De novo truncating variants in ASXL2 are associated with a unique and recognizable clinical phenotype V Shashi, LDM Pena, K Kim, B Burton, M Hempel, K Schoch, ... The American Journal of Human Genetics 99 (4), 991-999, 2016 | 71 | 2016 |
Lysosomal storage and albinism due to effects of a de novo CLCN7 variant on lysosomal acidification ER Nicoli, MR Weston, M Hackbarth, A Becerril, A Larson, WM Zein, ... The American Journal of Human Genetics 104 (6), 1127-1138, 2019 | 70 | 2019 |