Beom Hee Lee
Ulsan College(KR)Asan Medical Center(KR)University of Ulsan(KR)
Publications by Year
Research Areas
Lysosomal Storage Disorders Research, Metabolism and Genetic Disorders, Genomics and Rare Diseases, Genetics and Neurodevelopmental Disorders, Robotic Path Planning Algorithms
Most-Cited Works
- → Diagnostic yield and clinical utility of whole exome sequencing using an automated variant prioritization system, EVIDENCE(2020)164 cited
- → Spectrum of Mutations in Noonan Syndrome and Their Correlation with Phenotypes(2011)95 cited
- → Atypical Hemolytic Uremic Syndrome Associated With Complement Factor H Autoantibodies and CFHR1/CFHR3 Deficiency(2009)87 cited
- → A review of the literature on common CYP17A1 mutations in adults with 17-hydroxylase/17,20-lyase deficiency, a case series of such mutations among Koreans and functional characteristics of a novel mutation(2013)76 cited
- → Variable phenotype of Pierson syndrome(2008)76 cited
- → Diagnostic yield of targeted gene panel sequencing to identify the genetic etiology of disorders of sex development(2017)74 cited