| Strong association of de novo copy number mutations with autism J Sebat, B Lakshmi, D Malhotra, J Troge, C Lese-Martin, T Walsh, ... Science 316 (5823), 445-449, 2007 | 3429 | 2007 |
| Risks of breast, ovarian, and contralateral breast cancer for BRCA1 and BRCA2 mutation carriers KB Kuchenbaecker, JL Hopper, DR Barnes, KA Phillips, TM Mooij, ... Jama 317 (23), 2402-2416, 2017 | 2677 | 2017 |
| Induced pluripotent stem cells generated from patients with ALS can be differentiated into motor neurons JT Dimos, KT Rodolfa, KK Niakan, LM Weisenthal, H Mitsumoto, W Chung, ... science 321 (5893), 1218-1221, 2008 | 2537 | 2008 |
| Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2. 0): a policy statement of the American College of Medical … SS Kalia, K Adelman, SJ Bale, WK Chung, C Eng, JP Evans, GE Herman, ... Genetics in medicine 19 (2), 249-255, 2017 | 1691 | 2017 |
| Phenotypes of Mouse diabetes and Rat fatty Due to Mutations in the OB (Leptin) Receptor SC Chua Jr, WK Chung, XS Wu-Peng, Y Zhang, SM Liu, L Tartaglia, ... Science 271 (5251), 994-996, 1996 | 1500 | 1996 |
| Clinical application of whole-exome sequencing across clinical indications K Retterer, J Juusola, MT Cho, P Vitazka, F Millan, F Gibellini, ... Genetics in Medicine 18 (7), 696-704, 2016 | 990 | 2016 |
| Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathways ET Cirulli, BN Lasseigne, S Petrovski, PC Sapp, PA Dion, CS Leblond, ... Science 347 (6229), 1436-1441, 2015 | 986 | 2015 |
| Pediatric pulmonary hypertension: guidelines from the American heart association and American thoracic society SH Abman, G Hansmann, SL Archer, DD Ivy, I Adatia, WK Chung, ... Circulation 132 (21), 2037-2099, 2015 | 982 | 2015 |
| De novo mutations in histone-modifying genes in congenital heart disease S Zaidi, M Choi, H Wakimoto, L Ma, J Jiang, JD Overton, ... Nature 498 (7453), 220-223, 2013 | 950 | 2013 |
| Diagnosis and management of spinal muscular atrophy: Part 1: Recommendations for diagnosis, rehabilitation, orthopedic and nutritional care E Mercuri, RS Finkel, F Muntoni, B Wirth, J Montes, M Main, ES Mazzone, ... Neuromuscular disorders 28 (2), 103-115, 2018 | 875 | 2018 |
| De novo mutations in congenital heart disease with neurodevelopmental and other congenital anomalies J Homsy, S Zaidi, Y Shen, JS Ware, KE Samocha, KJ Karczewski, ... Science 350 (6265), 1262-1266, 2015 | 753 | 2015 |
| Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands SC Jin, J Homsy, S Zaidi, Q Lu, S Morton, SR DePalma, X Zeng, H Qi, ... Nature genetics 49 (11), 1593-1601, 2017 | 713 | 2017 |
| Mapping the human genetic architecture of COVID-19 Writing group Writing group leaders Pathak Gita A. 6 Andrews Shea J. 7 Kanai ... Nature 600 (7889), 472-477, 2021 | 710 | 2021 |
| Genome-wide analyses identify KIF5A as a novel ALS gene A Nicolas, KP Kenna, AE Renton, N Ticozzi, F Faghri, R Chia, ... Neuron 97 (6), 1268-1283. e6, 2018 | 576 | 2018 |
| A novel channelopathy in pulmonary arterial hypertension L Ma, D Roman-Campos, ED Austin, M Eyries, KS Sampson, F Soubrier, ... New England Journal of Medicine 369 (4), 351-361, 2013 | 570 | 2013 |
| Association of type and location of BRCA1 and BRCA2 mutations with risk of breast and ovarian cancer TR Rebbeck, N Mitra, F Wan, OM Sinilnikova, S Healey, L McGuffog, ... Jama 313 (13), 1347-1361, 2015 | 546 | 2015 |
| Observational study of spinal muscular atrophy type I and implications for clinical trials RS Finkel, MP McDermott, P Kaufmann, BT Darras, WK Chung, ... Neurology 83 (9), 810-817, 2014 | 546 | 2014 |
| Genetics and genomics of pulmonary arterial hypertension RD Machado, O Eickelberg, CG Elliott, MW Geraci, M Hanaoka, JE Loyd, ... Journal of the American College of Cardiology 54 (1_Supplement_S), S32-S42, 2009 | 511 | 2009 |
| Genetic basis for congenital heart disease: revisited: a scientific statement from the American Heart Association ME Pierpont, M Brueckner, WK Chung, V Garg, RV Lacro, AL McGuire, ... Circulation 138 (21), e653-e711, 2018 | 478 | 2018 |
| Meta-analysis and multidisciplinary consensus statement: exome sequencing is a first-tier clinical diagnostic test for individuals with neurodevelopmental disorders S Srivastava, JA Love-Nichols, KA Dies, DH Ledbetter, CL Martin, ... Genetics in Medicine 21 (11), 2413-2421, 2019 | 447 | 2019 |
