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 · 161 citations · Full text

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 · 94 citations

Allelic Variant, Mendelian Disorder, Genetic Disorder +8

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

Glomerulonephritis, Autoimmune Disease, Allergy +10

Variable phenotype of Pierson syndrome

Hyun Jin Choi, Beom Hee Lee, Ju Hyung Kang et al. · Pediatric Nephrology · 2008 · 76 citations · Full text

Down Syndrome, Mendelian Disorder, Genetic Disorder +4

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 · 73 citations

Infertility, Developmental Biology, Mendelian Disorder +12