Department of Biomedical Sciences, SNU
KOR

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Faculty

Choi, murim

Ph.D. / Associate professor
Functional Genomics lab
TEL +82-2-740-8912
E-MAIL murimchoi@snu.ac.kr
WEBSITE https://www.snugenomics.com/

Research

Research Field
Our main scientific goal is to uncover the genetic mechanisms of human diseases using contemporary approaches, such as single-cell sequencing, genome-wide library construction and systems biology techniques on human, animal and cell models.
Pure Link
https://snucm.elsevierpure.com/en/persons/murim-choi
Keyword
Functional genomics, human genetics, genetics of human diseases, developmental biology
Intensive Major
# Omics Medicine

Education

  • 1998 Seoul National University, BS
  • 2000 Seoul National University, MS
  • 2006 Duke University, PhD

Career

  • 2007 Yale University, Postdoctoral researcher
  • 2013- Seoul National University, Assistant/Associate professor

Publication

  1. Somatic uniparental disomy mitigates the most damaging EFL1 allele combination in Shwachman-Diamond syndrome. Blood (2021) 21:2117-2128
  2. Disease-specific eQTL screening reveals an anti-fibrotic effect of AGXT2 in non-alcoholic fatty liver disease. J Hepatol (2021) 75:514-523
  3. GABBR2 mutations determine phenotype in rett syndrome and epileptic encephalopathy. Ann Neurol (2017) 82:466-478
  4. Tofacitinib relieves symptoms of stimulator of interferon genes (STING)-associated vasculopathy with onset in infancy caused by 2 de novo variants in TMEM173. J Allergy Clin Immunol (2017) 139:1396-1399
  5. Abatacept alleviates severe autoimmune symptoms in a patient carrying a de novo variant in CTLA-4. J Allergy Clin Immunol (2016) 137:327-330
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