J. Jang

H. Yoo, I. Hwang, Gu-Hwan Kim, 2018, Experimental and clinical endocrinology & diabetes : official journal, German Society of Endocrinology [and] German Diabetes Association.

The First Case of an Infant with Familial A20 Haploinsufficiency in Korea

Ji Yeon Song, Ji Yeon Song, H. Kim, 2020, Journal of Korean medical science.

Two novel mutations in TTN of a patient with congenital myopathy: A case report

Joon Young Jang, Ju Seok Ryu, J. Ryu, 2019, Molecular genetics & genomic medicine.

The first Korean case with Floating-Harbor syndrome with a novel SRCAP mutation diagnosed by targeted exome sequencing

J. Ha, J. Jang, Y. Shim, 2018, Korean journal of pediatrics.

Identification of a novel variant in the PHEX gene using targeted gene panel sequencing in a 24-month-old boy with hypophosphatemic rickets

Young Mi Kim, Habeck Jo, H. Kim, 2020, Annals of pediatric endocrinology & metabolism.

A case of maternal uniparental disomy of chromosome 20 detected by noninvasive prenatal test of 1,000 high-risk pregnancies

D. Cha, J. Jang, Tae-Rim Lee, 2017 .

An ANKRD11 exonic deletion accompanied by a congenital megacolon in an infant with KBG syndrome

H. Yoo, B. Lee, J. Jang, 2019, Journal of Genetic Medicine.

Minimal deviation adenocarcinoma (adenoma malignum) of the uterine cervix: clinicopathological analysis of 17 cases

J. Jang, M. Choi, S. Jung, 2018, Obstetrics & gynecology science.

Genome-wide copy number alteration and VEGFA amplification of circulating cell-free DNA as a biomarker in advanced hepatocellular carcinoma patients treated with Sorafenib

K. Yoon, H. Kim, M. Kim, 2019, BMC Cancer.

A novel missense mutation in the ACTG1 gene in a family with congenital autosomal dominant deafness: A case report

Hyun-Seok Jin, J. Jang, Cha Gon Lee, 2018, Molecular medicine reports.

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

H. Yoo, Gu-Hwan Kim, B. Lee, 2017, Molecular and Cellular Endocrinology.

Rare presentation of Rothmund-Thomson syndrome with predominantly cutaneous findings

Y. Sohn, Jin-Sung Lee, Eun-So Lee, 2017, JAAD case reports.

Usefulness of comprehensive targeted multigene panel sequencing for neuromuscular disorders in Korean patients

Jihye Park, Dong-Woo Lee, J. Jang, 2019, Molecular genetics & genomic medicine.

Case Report: Co-occurrence of Duchenne Muscular Dystrophy and Frontometaphyseal Dysplasia 1

Myungshin Kim, Dong-Woo Lee, J. Jang, 2021, Frontiers in Pediatrics.

Correlation Between Vanishing White Matter Disease and Novel Heterozygous EIF2B3 Variants Using Next-Generation Sequencing: A Case Report

B. Choi, J. Ryu, J. Jang, 2019, Annals of rehabilitation medicine.

Identification of a Heterozygous SPG11 Mutation by Clinical Exome Sequencing in a Patient With Hereditary Spastic Paraplegia: A Case Report

Seungok Lee, J. Jang, D. Jang, 2016, Annals of rehabilitation medicine.

TRIP11-PDGFRB fusion in a patient with a therapy-related myeloid neoplasm with t(5;14)(q33;q32) after treatment for acute promyelocytic leukemia

J. Jang, Hoon‐Gu Kim, E. Koh, 2014, Molecular Cytogenetics.

Case report: Cerebrotendinous xanthomatosis with a novel mutation in the CYP27A1 gene mimicking behavioral variant frontotemporal dementia

Y. Suh, S. Seo, Hee Jin Kim, 2023, Frontiers in Neurology.

Clinically significant maternal X chromosomal copy number variation detected by noninvasive prenatal test

D. Cha, J. Jang, Eun-Hae Cho, 2019, The journal of obstetrics and gynaecology research.

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

Ji Yoon Han, Joonhong Park, Soyoung Shin, 2017, Annals of clinical and laboratory science.

Delayed Diagnosis of Atypical Mowat-Wilson Syndrome

C. Ki, Mi-Ae Jang, Jeehun Lee, 2016 .

Mowat-Wilson syndrome 1 예 Delayed Diagnosis of Atypical Mowat-Wilson Syndrome

C. Ki, Mi-Ae Jang, Jeehun Lee, 2016 .

Kallmann syndrome with a Tyr113His PROKR2 mutation

B. Rhee, K. Ko, J. Jang, 2017, Medicine.

Genome-wide copy number alteration and VEGFA amplification of circulating cell-free DNA as a biomarker in advanced hepatocellular carcinoma patients treated with Sorafenib

K. Yoon, H. Kim, M. Kim, 2019, BMC Cancer.

Genetic and functional analysis of TBK1 variants in Korean patients with sporadic amyotrophic lateral sclerosis

Seungbok Lee, C. Ki, Minyeop Nahm, 2017, Neurobiology of Aging.

Two Novel Mutations (c.883-4_890del and c.1684C>G) of WDR62 Gene Associated With Autosomal Recessive Primary Microcephaly: A Case Report

Dong-Woo Lee, J. Jang, D. Jang, 2019, Front. Pediatr..

Minor BCR-ABL1-Positive Acute Myeloid Leukemia Associated With the NPM1 Mutation and FLT3 Internal Tandem Duplication

J. Choi, S. Jeong, J. Jang, 2016, Annals of laboratory medicine.

Case Report: Novel Splicing Variant in SH2D1A in a Patient With X-Linked Lymphoproliferative Syndrome Type 1

K. Yoo, Yae-Jean Kim, J. Jang, 2022, Frontiers in Pediatrics.

First identified Korean family with Tatton-Brown-Rahman Syndrome caused by the novel DNMT3A variant c.118G>C p.(Glu40Gln)

J. Jang, Cha Gon Lee, J. Seo, 2019, Annals of Pediatric Endocrinology & Metabolism.

Effectiveness of levetiracetam in an acetazolamide‐unresponsive patient with episodic ataxia type 2 by a novel CACNA1A nonsense mutation

J. Jang, D. Jang, Tae-Won Kim, 2017, European Journal of Neurology.

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

Ji Yoon Han, Soyoung Shin, Myungshin Kim, 2017, European journal of medical genetics.

Characteristic dysmorphic features in congenital disorders of glycosylation type IIb

B. Lee, J. Jang, G. Seo, 2017, Journal of Human Genetics.