Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signaling GI Rice, Y del Toro Duany, EM Jenkinson, GMA Forte, BH Anderson, ... Nature genetics 46 (5), 503-509, 2014 | 635 | 2014 |
Diagnosis and management of mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society S Parikh, A Goldstein, MK Koenig, F Scaglia, GM Enns, R Saneto, ... Genetics in Medicine 17 (9), 689-701, 2015 | 621 | 2015 |
The national institutes of health undiagnosed diseases program: insights into rare diseases WA Gahl, TC Markello, C Toro, KF Fajardo, M Sincan, F Gill, ... Genetics in medicine 14 (1), 51-59, 2012 | 332 | 2012 |
Patient care standards for primary mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society S Parikh, A Goldstein, A Karaa, MK Koenig, I Anselm, C Brunel-Guitton, ... Genetics in Medicine 19 (12), 1380-1380, 2017 | 306 | 2017 |
Autosomal recessive phosphoglucomutase 3 (PGM3) mutations link glycosylation defects to atopy, immune deficiency, autoimmunity, and neurocognitive impairment Y Zhang, X Yu, M Ichikawa, JJ Lyons, S Datta, IT Lamborn, H Jing, ES Kim, ... Journal of Allergy and Clinical Immunology 133 (5), 1400-1409. e5, 2014 | 261 | 2014 |
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 | 193 | 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 | 175 | 2017 |
Prospective phenotyping of NGLY1-CDDG, the first congenital disorder of deglycosylation C Lam, C Ferreira, D Krasnewich, C Toro, L Latham, WM Zein, T Lehky, ... Genetics in Medicine 19 (2), 160-168, 2017 | 160 | 2017 |
Glycosylation, hypogammaglobulinemia, and resistance to viral infections MA Sadat, S Moir, TW Chun, P Lusso, G Kaplan, L Wolfe, MJ Memoli, ... New England Journal of Medicine 370 (17), 1615-1625, 2014 | 152 | 2014 |
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 | 122 | 2017 |
Mutations in the human SC4MOL gene encoding a methyl sterol oxidase cause psoriasiform dermatitis, microcephaly, and developmental delay M He, LE Kratz, JJ Michel, AN Vallejo, L Ferris, RI Kelley, JJ Hoover, ... The Journal of clinical investigation 121 (3), 976-984, 2011 | 114 | 2011 |
Computational evaluation of exome sequence data using human and model organism phenotypes improves diagnostic efficiency WP Bone, NL Washington, OJ Buske, DR Adams, J Davis, D Draper, ... Genetics in Medicine 18 (6), 608-617, 2016 | 112 | 2016 |
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 | 108 | 2018 |
Defective glycosylation and multisystem abnormalities characterize the primary immunodeficiency XMEN disease JC Ravell, M Matsuda-Lennikov, SD Chauvin, J Zou, M Biancalana, ... The Journal of clinical investigation 130 (1), 507-522, 2020 | 93 | 2020 |
Mitochondrial Disease Sequence Data Resource (MSeqDR): a global grass-roots consortium to facilitate deposition, curation, annotation, and integrated analysis of genomic data … MJ Falk, L Shen, M Gonzalez, J Leipzig, MT Lott, APM Stassen, ... Molecular genetics and metabolism 114 (3), 388-396, 2015 | 93 | 2015 |
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 | 90 | 2019 |
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 | 85 | 2018 |
Biallelic mutations in CAD, impair de novo pyrimidine biosynthesis and decrease glycosylation precursors BG Ng, LA Wolfe, M Ichikawa, T Markello, M He, CJ Tifft, WA Gahl, ... Human molecular genetics 24 (11), 3050-3057, 2015 | 82 | 2015 |
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 | 81 | 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 | 81 | 2019 |