Beom Hee Lee

Diagnostic yield and clinical utility of whole exome sequencing using an automated variant prioritization system, <scp>EVIDENCE</scp>

Go Hun Seo, Tae Ho Kim, In Hee Choi et al. · Clinical Genetics · 2020 · 169 citations · Full text

Life Sciences, Genetics, Genomic Data Analysis +15

Spectrum of Mutations in Noonan Syndrome and Their Correlation with Phenotypes

Beom Hee Lee, Jae‐Min Kim, Hye Young Jin et al. · The Journal of Pediatrics · 2011 · 96 citations

Life Sciences, Genetics, Molecular Genetics +10

Atypical Hemolytic Uremic Syndrome Associated With Complement Factor H Autoantibodies and CFHR1/CFHR3 Deficiency

Beom Hee Lee, Soo Heon Kwak, Jae Il Shin et al. · Pediatric Research · 2009 · 87 citations · Full text

Life Sciences, Immunology, Nephrology +16

Diagnostic yield of targeted gene panel sequencing to identify the genetic etiology of disorders of sex development

Ja Hye Kim, Eungu Kang, Sun Hee Heo et al. · Molecular and Cellular Endocrinology · 2017 · 78 citations

Life Sciences, Genetics, Molecular Genetics +17

Variable phenotype of Pierson syndrome

Hyun Jin Choi, Beom Hee Lee, Ju Hyung Kang et al. · Pediatric Nephrology · 2008 · 77 citations · Full text

Life Sciences, Genetics, Neurology +10