Murim Choi

Overview

Best Publications

• De novo mutations revealed by whole-exome sequencing are strongly associated with autism

  Stephan J. Sanders;Michael T. Murtha;Abha R. Gupta;John D. Murdoch

  2443
  Citations

• Genetic diagnosis by whole exome capture and massively parallel DNA sequencing

  Murim Choi;Ute I. Scholl;Weizhen Ji;Tiewen Liu

  1715
  Citations

• Genetic studies of body mass index yield new insights for obesity biology

  Adam E. Locke;Bratati Kahali;Sonja I. Berndt;Anne E. Justice

  1689
  Citations

• Multiple Recurrent De Novo CNVs, Including Duplications of the 7q11.23 Williams Syndrome Region, Are Strongly Associated with Autism

  Stephan J. Sanders;A. Gulhan Ercan-Sencicek;Vanessa Hus;Rui Luo

  1500
  Citations

• Exome sequencing identifies recurrent somatic RAC1 mutations in melanoma.

  Michael Krauthammer;Yong Lin Kong;Byung Hak Ha;Perry Evans

  1330
  Citations

• K+ Channel Mutations in Adrenal Aldosterone-Producing Adenomas and Hereditary Hypertension

  Murim Choi;Ute I. Scholl;Peng Yue;Peyman Björklund;Peyman Björklund

  1073
  Citations

• De novo mutations in histone-modifying genes in congenital heart disease

  Samir Zaidi;Murim Choi;Hiroko Wakimoto;Lijiang Ma

  966
  Citations

• Genomic Analysis of Non-NF2 Meningiomas Reveals Mutations in TRAF7, KLF4, AKT1, and SMO

  Victoria E. Clark;E. Zeynep Erson-Omay;Akdes Serin;Jun Yin

  842
  Citations

• Co-occurring Genomic Alterations Define Major Subsets of KRAS-Mutant Lung Adenocarcinoma with Distinct Biology, Immune Profiles, and Therapeutic Vulnerabilities

  Ferdinandos Skoulidis;Lauren A. Byers;Lixia Diao;Vassiliki A. Papadimitrakopoulou

  782
  Citations

• Genome-wide association study identifies susceptibility loci for IgA nephropathy

  Ali G Gharavi;Krzysztof Kiryluk;Murim Choi;Yifu Li

  699
  Citations

• Discovery of new risk loci for IgA nephropathy implicates genes involved in immunity against intestinal pathogens

  Krzysztof Kiryluk;Yifu Li;Francesco Scolari;Simone Sanna-Cherchi

  679
  Citations

• Mutations in kelch-like 3 and cullin 3 cause hypertension and electrolyte abnormalities

  Lynn M. Boyden;Murim Choi;Keith A. Choate;Carol J. Nelson-Williams

  639
  Citations

• Somatic and germline CACNA1D calcium channel mutations in aldosterone-producing adenomas and primary aldosteronism

  Ute I Scholl;Gerald Goh;Gabriel Stölting;Regina Campos de Oliveira

  613
  Citations

• Whole-exome sequencing identifies recessive WDR62 mutations in severe brain malformations

  Kaya Bilgüvar;Ali Kemal Oztürk;Angeliki Louvi;Kenneth Y Kwan

  610
  Citations

• Mutation of NLRC4 causes a syndrome of enterocolitis and autoinflammation

  Neil Romberg;Khatoun Al Moussawi;Carol Nelson-Williams;Amy L Stiegler

  543
  Citations

• Recessive mutations in DGKE cause atypical hemolytic-uremic syndrome

  Mathieu Lemaire;Véronique Frémeaux-Bacchi;Franz Schaefer;Murim Choi

  528
  Citations

• Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance (SeSAME syndrome) caused by mutations in KCNJ10

  Ute I. Scholl;Murim Choi;Tiewen Liu;Vincent T. Ramaekers

  476
  Citations

• Geographic Differences in Genetic Susceptibility to IgA Nephropathy: GWAS Replication Study and Geospatial Risk Analysis

  Krzysztof Kiryluk;Yifu Li;Simone Sanna-Cherchi;Simone Sanna-Cherchi;Mersedeh Rohanizadegan

  401
  Citations

• ADCK4 mutations promote steroid-resistant nephrotic syndrome through CoQ10 biosynthesis disruption

  Shazia Ashraf;Heon Yung Gee;Stephanie Woerner;Stephanie Woerner;Letian X. Xie

  369
  Citations

• Characterization of the mutational landscape of anaplastic thyroid cancer via whole exome sequencing

  John W. Kunstman;C. Christofer Juhlin;Gerald Goh;Taylor C. Brown

  349
  Citations