Ja Hyun Jang

Targeted Next-Generation Sequencing of Korean Patients With Developmental Delay and/or Intellectual Disability

Ji Yoon Han, Ja Hyun Jang, Joonhong Park et al. · Frontiers in Pediatrics · 2018 · 58 citations · Full text

The first patient with sporadic X-linked intellectual disability with de novo ZDHHC9 mutation identified by targeted next-generation sequencing

Ji Yoon Han, In Goo Lee, So–Youn Shin et al. · European Journal of Medical Genetics · 2017 · 21 citations

Mendelian Disorder, Genetic Disorder, Medicine +11

A Novel Inherited Mutation of <i>SCN8A</i> in a Korean Family with Benign Familial Infantile Epilepsy Using Diagnostic Exome Sequencing.

Ji Yoon Han, Ja Hyun Jang, In Goo Lee et al. · PubMed · 2017 · 17 citations

Diagnostic exome sequencing identifies a heterozygous MBD5 frameshift mutation in a family with intellectual disability and epilepsy

Ji Yoon Han, In Goo Lee, Woori Jang et al. · European Journal of Medical Genetics · 2017 · 10 citations

Mendelian Disorder, Genetic Disorder, Genetics +6