Serra Kim
Directorate-General for Interpretation(BE)Color (United States)(US)
Publications by Year
Research Areas
Genomics and Rare Diseases, Genetic Associations and Epidemiology, Cancer Genomics and Diagnostics, Lipoproteins and Cardiovascular Health, Diabetes, Cardiovascular Risks, and Lipoproteins
Most-Cited Works
- → The Clinical Genome Resource (ClinGen) Familial Hypercholesterolemia Variant Curation Expert Panel consensus guidelines for LDLR variant classification(2021)148 cited
- → LEAP: Using machine learning to support variant classification in a clinical setting(2020)39 cited
- → Harmonizing variant classification for return of results in the All of Us Research Program(2021)16 cited
- → Challenges and approaches to calibrating patient phenotype as evidence for cancer gene variant classification under ACMG/AMP guidelines(2024)7 cited
- → The Clinical Genome Resource (ClinGen) Familial Hypercholesterolemia Variant Curation Expert Panel consensus guidelines for LDLR variant classification(2021)3 cited
- RECOMMENDATIONS FOR LDLR VARIANT INTERPRETATION BY THE CLINGEN'S FAMILIAL HYPERCHOLESTEROLEMIA EXPERT PANEL(2020)