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Murim Choi
Murim Choi
在 snu.ac.kr 的电子邮件经过验证 - 首页
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引用次数
引用次数
年份
Genetic studies of body mass index yield new insights for obesity biology
AE Locke, B Kahali, SI Berndt, AE Justice, TH Pers, FR Day, C Powell, ...
Nature 518 (7538), 197-206, 2015
47042015
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
23452012
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
18372009
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
16342015
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
14842011
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
13302012
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
10892011
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
9492013
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
8532013
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
7952015
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
6742011
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
6632012
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
6342014
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
6222010
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
6172013
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
5132013
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
5072014
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
4922009
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
4002012
Characterization of the mutational landscape of anaplastic thyroid cancer via whole-exome sequencing
JW Kunstman, CC Juhlin, G Goh, TC Brown, A Stenman, JM Healy, ...
Human molecular genetics 24 (8), 2318-2329, 2015
3582015
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