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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 | 2345 | 2012 |
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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 | 1634 | 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 | 1484 | 2011 |
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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 | 1089 | 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 | 949 | 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 | 853 | 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 | 795 | 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 | 674 | 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 | 663 | 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 | 634 | 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 | 622 | 2010 |
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