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 mutationYoo‐Mi Kim, Han‐Wook Yoo, Jung Hun Ohn et al.|Metabolism|2013Cited by 76
High Frequency of <b><i>DUOX2</i></b> Mutations in Transient or Permanent Congenital Hypothyroidism with Eutopic Thyroid GlandsHye Young Jin, Han‐Wook Yoo, Gu-Hwan Kim et al.|Hormone Research in Paediatrics|2014Cited by 60
Clinical outcomes and the mutation spectrum of the OTC gene in patients with ornithine transcarbamylase deficiencyJin‐Ho Choi, Han‐Wook Yoo, Jung Min Ko et al.|Journal of Human Genetics|2015Cited by 49
Diagnostic performance of automated, streamlined, daily updated exome analysis in patients with neurodevelopmental delayGo Hun Seo, Baik‐Lin Eun, Jung Hye Byeon et al.|Molecular Medicine|2022Cited by 28
eP239: Diagnostic performance of automated streamlined, daily updated, exome analysis in patients with delayed developmentGo Hun Seo, Baik‐Lin Eun, Jung Hye Byeon et al.|Genetics in Medicine|2022Cited by 1