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| De novo mutations revealed by whole-exome sequencing are strongly associated with autism SJ Sanders, MT Murtha, AR Gupta, JD Murdoch, MJ Raubeson, ... Nature 485 (7397), 237-241, 2012 | 2325 | 2012 |
| Genetic diagnosis by whole exome capture and massively parallel DNA sequencing M Choi, UI Scholl, W Ji, T Liu, IR Tikhonova, P Zumbo, A Nayir, ... Proceedings of the National Academy of Sciences 106 (45), 19096-19101, 2009 | 1820 | 2009 |
| New genetic loci link adipose and insulin biology to body fat distribution D Shungin, TW Winkler, DC Croteau-Chonka, T Ferreira, AE Locke, ... Nature 518 (7538), 187-196, 2015 | 1592 | 2015 |
| Multiple recurrent de novo CNVs, including duplications of the 7q11. 23 Williams syndrome region, are strongly associated with autism SJ Sanders, AG Ercan-Sencicek, V Hus, R Luo, MT Murtha, ... Neuron 70 (5), 863-885, 2011 | 1469 | 2011 |
| Exome sequencing identifies recurrent somatic RAC1 mutations in melanoma M Krauthammer, Y Kong, BH Ha, P Evans, A Bacchiocchi, JP McCusker, ... Nature genetics 44 (9), 1006-1014, 2012 | 1320 | 2012 |
| K+ channel mutations in adrenal aldosterone-producing adenomas and hereditary hypertension M Choi, UI Scholl, P Yue, P Björklund, B Zhao, C Nelson-Williams, W Ji, ... Science 331 (6018), 768-772, 2011 | 1080 | 2011 |
| 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 |
| Genomic Analysis of Non-NF2 Meningiomas Reveals Mutations in TRAF7, KLF4, AKT1, and SMO VE Clark, EZ Erson-Omay, A Serin, J Yin, J Cotney, K Özduman, T Avşar, ... Science 339 (6123), 1077-1080, 2013 | 835 | 2013 |
| Co-occurring Genomic Alterations Define Major Subsets of KRAS-Mutant Lung Adenocarcinoma with Distinct Biology, Immune Profiles, and Therapeutic … F Skoulidis, LA Byers, L Diao, VA Papadimitrakopoulou, P Tong, J Izzo, ... Cancer discovery 5 (8), 860-877, 2015 | 776 | 2015 |
| Genome-wide association study identifies susceptibility loci for IgA nephropathy AG Gharavi, K Kiryluk, M Choi, Y Li, P Hou, J Xie, S Sanna-Cherchi, ... Nature genetics 43 (4), 321-327, 2011 | 666 | 2011 |
| Mutations in kelch-like 3 and cullin 3 cause hypertension and electrolyte abnormalities LM Boyden, M Choi, KA Choate, CJ Nelson-Williams, A Farhi, HR Toka, ... Nature 482 (7383), 98-102, 2012 | 648 | 2012 |
| Discovery of new risk loci for IgA nephropathy implicates genes involved in immunity against intestinal pathogens K Kiryluk, Y Li, F Scolari, S Sanna-Cherchi, M Choi, M Verbitsky, D Fasel, ... Nature genetics 46 (11), 1187-1196, 2014 | 623 | 2014 |
| Whole-exome sequencing identifies recessive WDR62 mutations in severe brain malformations K Bilgüvar, AK Öztürk, A Louvi, KY Kwan, M Choi, B Tatlı, D Yalnızoğlu, ... Nature 467 (7312), 207-210, 2010 | 616 | 2010 |
| Somatic and germline CACNA1D calcium channel mutations in aldosterone-producing adenomas and primary aldosteronism UI Scholl, G Goh, G Stölting, RC De Oliveira, M Choi, JD Overton, ... Nature genetics 45 (9), 1050-1054, 2013 | 610 | 2013 |
| Recessive mutations in DGKE cause atypical hemolytic-uremic syndrome M Lemaire, V Frémeaux-Bacchi, F Schaefer, M Choi, WH Tang, ... Nature genetics 45 (5), 531-536, 2013 | 516 | 2013 |
| Mutation of NLRC4 causes a syndrome of enterocolitis and autoinflammation N Romberg, K Al Moussawi, C Nelson-Williams, AL Stiegler, E Loring, ... Nature genetics 46 (10), 1135-1139, 2014 | 495 | 2014 |
| Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance (SeSAME syndrome) caused by mutations in KCNJ10 UI Scholl, M Choi, T Liu, VT Ramaekers, MG Häusler, J Grimmer, ... Proceedings of the National Academy of Sciences 106 (14), 5842-5847, 2009 | 482 | 2009 |
| Geographic differences in genetic susceptibility to IgA nephropathy: GWAS replication study and geospatial risk analysis K Kiryluk, Y Li, S Sanna-Cherchi, M Rohanizadegan, H Suzuki, F Eitner, ... PLoS genetics 8 (6), e1002765, 2012 | 392 | 2012 |
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Richard P. LiftonPresident, Rockefeller UniversityVerified email at rockefeller.edu
