Ja‐Hyun Jang

Clinical Implication of Highly Sensitive Detection of the BRAF V600E Mutation in Fine-Needle Aspirations of Thyroid Nodules: A Comparative Analysis of Three Molecular Assays in 4585 Consecutive Cases in a BRAF V600E Mutation-Prevalent Area

Seung‐Tae Lee, Sun Wook Kim, Chang‐Seok Ki et al. · The Journal of Clinical Endocrinology & Metabolism · 2012 · 96 citations · Full text

Analysis of the C9orf72 hexanucleotide repeat expansion in Korean patients with familial and sporadic amyotrophic lateral sclerosis

Ja‐Hyun Jang, Min‐Jung Kwon, Won Jun Choi et al. · Neurobiology of Aging · 2012 · 73 citations

Neurodegenerative Diseases, Amyotrophic Lateral Sclerosis, Mendelian Disorder +8

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

Carrier frequency of Wilson’s disease in the Korean population: a DNA-based approach

Ja‐Hyun Jang, Taeheon Lee, Sunghee Bang et al. · Journal of Human Genetics · 2017 · 59 citations

Carrier Frequency, Disease Susceptibility, Disease Mechanism +10

Familial Xp22.33‐Xp22.12 deletion delineated by chromosomal microarray analysis causes proportionate short stature

Sung Yoon Cho, Chang‐Seok Ki, Ja‐Hyun Jang et al. · American Journal of Medical Genetics Part A · 2012 · 49 citations