| Polygenic prediction of weight and obesity trajectories from birth to adulthood AV Khera, M Chaffin, KH Wade, S Zahid, J Brancale, R Xia, M Distefano, ... Cell 177 (3), 587-596. e9, 2019 | 674 | 2019 |
| Total synthesis of a functional designer eukaryotic chromosome N Annaluru, H Muller, LA Mitchell, S Ramalingam, G Stracquadanio, ... science 344 (6179), 55-58, 2014 | 666 | 2014 |
| Recommendations for interpreting the loss of function PVS1 ACMG/AMP variant criterion AN Abou Tayoun, T Pesaran, MT DiStefano, A Oza, HL Rehm, ... Human mutation 39 (11), 1517-1524, 2018 | 641 | 2018 |
| Evaluating the clinical validity of gene-disease associations: an evidence-based framework developed by the clinical genome resource NT Strande, ER Riggs, AH Buchanan, O Ceyhan-Birsoy, M DiStefano, ... The American Journal of Human Genetics 100 (6), 895-906, 2017 | 488 | 2017 |
| Expert specification of the ACMG/AMP variant interpretation guidelines for genetic hearing loss AM Oza, MT DiStefano, SE Hemphill, BJ Cushman, AR Grant, RK Siegert, ... Human mutation 39 (11), 1593-1613, 2018 | 374 | 2018 |
| IL-1 signaling in obesity-induced hepatic lipogenesis and steatosis KA Negrin, RJ Roth Flach, MT DiStefano, A Matevossian, RH Friedline, ... PloS one 9 (9), e107265, 2014 | 179 | 2014 |
| ClinVar database of global familial hypercholesterolemia‐associated DNA variants MA Iacocca, JR Chora, A Carrié, T Freiberger, SE Leigh, JC Defesche, ... Human mutation 39 (11), 1631-1640, 2018 | 112 | 2018 |
| Endothelial protein kinase MAP4K4 promotes vascular inflammation and atherosclerosis RJ Roth Flach, A Skoura, A Matevossian, LV Danai, W Zheng, C Cortes, ... Nature communications 6 (1), 8995, 2015 | 104 | 2015 |
| ClinVar miner: demonstrating utility of a web‐based tool for viewing and filtering ClinVar data A Henrie, SE Hemphill, N Ruiz‐Schultz, B Cushman, MT DiStefano, ... Human mutation 39 (8), 1051-1060, 2018 | 98 | 2018 |
| The gene curation coalition: a global effort to harmonize gene–disease evidence resources MT DiStefano, S Goehringer, L Babb, FS Alkuraya, J Amberger, M Amin, ... Genetics in Medicine 24 (8), 1732-1742, 2022 | 81 | 2022 |
| ClinGen expert clinical validity curation of 164 hearing loss gene–disease pairs MT DiStefano, SE Hemphill, AM Oza, RK Siegert, AR Grant, MY Hughes, ... Genetics in Medicine 21 (10), 2239-2247, 2019 | 78 | 2019 |
| Consensus interpretation of the p.Met34Thr and p.Val37Ile variants in GJB2 by the ClinGen Hearing Loss Expert Panel J Shen, AM Oza, I Del Castillo, H Duzkale, T Matsunaga, A Pandya, ... Genetics in Medicine 21 (11), 2442-2452, 2019 | 76 | 2019 |
| The lipid droplet protein hypoxia-inducible gene 2 promotes hepatic triglyceride deposition by inhibiting lipolysis MT DiStefano, LV Danai, RJR Flach, A Chawla, DJ Pedersen, ... Journal of Biological Chemistry 290 (24), 15175-15184, 2015 | 65 | 2015 |
| Tenomodulin promotes human adipocyte differentiation and beneficial visceral adipose tissue expansion O Senol-Cosar, RJR Flach, M DiStefano, A Chawla, S Nicoloro, ... Nature communications 7 (1), 10686, 2016 | 63 | 2016 |
| β3-Adrenergic receptor stimulation induces E-selectin-mediated adipose tissue inflammation RJR Flach, A Matevossian, TE Akie, KA Negrin, MT Paul, MP Czech Journal of Biological Chemistry 288 (4), 2882-2892, 2013 | 62 | 2013 |
| Unique contribution of IRF-5-Ikaros axis to the B-cell IgG2a response CM Fang, S Roy, E Nielsen, M Paul, R Maul, A Paun, F Koentgen, ... Genes & Immunity 13 (5), 421-430, 2012 | 47 | 2012 |
| ClinGen Variant Curation Interface: a variant classification platform for the application of evidence criteria from ACMG/AMP guidelines CG Preston, MW Wright, R Madhavrao, SM Harrison, JL Goldstein, X Luo, ... Genome medicine 14 (1), 6, 2022 | 41 | 2022 |
| Adipocyte-specific Hypoxia-inducible gene 2 promotes fat deposition and diet-induced insulin resistance MT DiStefano, RJR Flach, O Senol-Cosar, LV Danai, JV Virbasius, ... Molecular metabolism 5 (12), 1149-1161, 2016 | 40 | 2016 |
| ClinGen Hearing Loss Clinical Domain Working Group Expert specification of the ACMG/AMP variant interpretation guidelines for genetic hearing loss AM Oza, MT DiStefano, SE Hemphill, BJ Cushman, AR Grant, RK Siegert, ... Hum. Mutat 39, 1593-1613, 2018 | 38 | 2018 |
| A survey assessing adoption of the ACMG-AMP guidelines for interpreting sequence variants and identification of areas for continued improvement A Niehaus, DR Azzariti, SM Harrison, MT DiStefano, SE Hemphill, ... Genetics in Medicine 21 (8), 1699-1701, 2019 | 37 | 2019 |