Youngmee Sul

Ataxia-Pancytopenia Syndrome Is Caused by Missense Mutations in SAMD9L

Dong-Hui Chen, Jennifer E. Below, Akiko Shimamura et al. · The American Journal of Human Genetics · 2016 · 174 citations · Full text

Genetic Disorder, Genetics, Ataxia-pancytopenia Syndrome Is +3

Integrated intracellular organization and its variations in human iPS cells

Matheus P. Viana, Jianxu Chen, Theo Knijnenburg et al. · Nature · 2023 · 128 citations · Full text

CMT2C with vocal cord paresis associated with short stature and mutations in the <i>TRPV4</i> gene

D.-H. Chen, Youngmee Sul, MaryAnn Weiss et al. · Neurology · 2010 · 85 citations · Full text

Alpha-defensin-dependent enhancement of enteric viral infection

Sarah S. Wilson, Beth A. Bromme, Mayumi K. Holly et al. · PLoS Pathogens · 2017 · 55 citations · Full text

Mucosal Immunology, Microbial Pathogens, Pathogenesis +14

Two Novel Mutations in<i>ABHD12</i>: Expansion of the Mutation Spectrum in PHARC and Assessment of Their Functional Effects

Dong-Hui Chen, Alipi V. Naydenov, Jacqueline L. Blankman et al. · Human Mutation · 2013 · 50 citations · Full text

Short Stature, Genetics, Molecular Biology +25