| Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the … S Richards, N Aziz, S Bale, D Bick, S Das, J Gastier-Foster, WW Grody, ... Genetics in medicine 17 (5), 405-423, 2015 | 28653 | 2015 |
| ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing RC Green, JS Berg, WW Grody, SS Kalia, BR Korf, CL Martin, AL McGuire, ... Genetics in medicine 15 (7), 565-574, 2013 | 2832 | 2013 |
| Guidelines for investigating causality of sequence variants in human disease DG MacArthur, TA Manolio, DP Dimmock, HL Rehm, J Shendure, ... Nature 508 (7497), 469-476, 2014 | 1449 | 2014 |
| ACMG Laboratory Quality Assurance Committee Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of … S Richards, N Aziz, S Bale, D Bick, S Das, J Gastier-Foster, WW Grody, ... Genet Med 17 (5), 405-424, 2015 | 1388 | 2015 |
| ClinGen—the clinical genome resource HL Rehm, JS Berg, LD Brooks, CD Bustamante, JP Evans, MJ Landrum, ... New England Journal of Medicine 372 (23), 2235-2242, 2015 | 1356 | 2015 |
| ACMG clinical laboratory standards for next-generation sequencing HL Rehm, SJ Bale, P Bayrak-Toydemir, JS Berg, KK Brown, JL Deignan, ... Genetics in medicine 15 (9), 733-747, 2013 | 1084 | 2013 |
| TRPA1 is a candidate for the mechanosensitive transduction channel of vertebrate hair cells DP Corey, J García-Añoveros, JR Holt, KY Kwan, SY Lin, MA Vollrath, ... Nature 432 (7018), 723-730, 2004 | 899 | 2004 |
| Genetic misdiagnoses and the potential for health disparities AK Manrai, BH Funke, HL Rehm, MS Olesen, BA Maron, P Szolovits, ... New England Journal of Medicine 375 (7), 655-665, 2016 | 769 | 2016 |
| GJB2 mutations and degree of hearing loss: a multicenter study RL Snoeckx, PLM Huygen, D Feldmann, S Marlin, F Denoyelle, ... The American Journal of Human Genetics 77 (6), 945-957, 2005 | 709 | 2005 |
| A brief history of human disease genetics M Claussnitzer, JH Cho, R Collins, NJ Cox, ET Dermitzakis, ME Hurles, ... Nature 577 (7789), 179-189, 2020 | 708 | 2020 |
| 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 | 700 | 2018 |
| Performance of ACMG-AMP variant-interpretation guidelines among nine laboratories in the clinical sequencing exploratory research consortium LM Amendola, GP Jarvik, MC Leo, HM McLaughlin, Y Akkari, MD Amaral, ... The American Journal of Human Genetics 98 (6), 1067-1076, 2016 | 654 | 2016 |
| Building the foundation for genomics in precision medicine SJ Aronson, HL Rehm Nature 526 (7573), 336-342, 2015 | 565 | 2015 |
| 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 | 535 | 2017 |
| Standardizing terms for clinical pharmacogenetic test results: consensus terms from the Clinical Pharmacogenetics Implementation Consortium (CPIC) KE Caudle, HM Dunnenberger, RR Freimuth, JF Peterson, JD Burlison, ... Genetics in Medicine 19 (2), 215-223, 2017 | 535 | 2017 |
| The Matchmaker Exchange: a platform for rare disease gene discovery AA Philippakis, DR Azzariti, S Beltran, AJ Brookes, CA Brownstein, ... Human mutation 36 (10), 915-921, 2015 | 524 | 2015 |
| Assuring the quality of next-generation sequencing in clinical laboratory practice AS Gargis, L Kalman, MW Berry, DP Bick, DP Dimmock, T Hambuch, F Lu, ... Nature biotechnology 30 (11), 1033-1036, 2012 | 522 | 2012 |
| A genomic mutational constraint map using variation in 76,156 human genomes S Chen, LC Francioli, JK Goodrich, RL Collins, M Kanai, Q Wang, J Alföldi, ... Nature 625 (7993), 92-100, 2024 | 513 | 2024 |
| Shared genetic causes of cardiac hypertrophy in children and adults H Morita, HL Rehm, A Menesses, B McDonough, AE Roberts, ... New England Journal of Medicine 358 (18), 1899-1908, 2008 | 499 | 2008 |
| Disease-targeted sequencing: a cornerstone in the clinic HL Rehm Nature reviews genetics 14 (4), 295-300, 2013 | 481 | 2013 |
