Jin Sook Lee

发表

Menkes disease in Korea: ATP7A mutation and epilepsy phenotype

M. Seong, S. Park, J. Chae, 2015, Brain and Development.

Comprehensive genetic analysis by whole exome sequencing in 352 Korean pediatric patients with unknown neurodevelopmental disorders

Murim Choi, J. Ko, Jieun Seo, 2018, bioRxiv.

Diagnostic challenge for the rare lysosomal storage disease: Late infantile GM1 gangliosidosis

Murim Choi, M. Seong, J. Chae, 2018, Brain and Development.

Genomic profiling of 553 uncharacterized neurodevelopment patients reveals a high proportion of recessive pathogenic variant carriers in an outbred population

Murim Choi, J. Ko, Jieun Seo, 2020, Scientific Reports.

Genomic profiling of 553 uncharacterized neurodevelopment patients reveals a high proportion of recessive pathogenic variant carriers in an outbred population

Y. H. Lee, Murim Choi, J. Ko, 2019, Scientific Reports.

Chromosomal Microarray With Clinical Diagnostic Utility in Children With Developmental Delay or Intellectual Disability

J. Jun, Y. Choi, J. Chae, 2018, Annals of laboratory medicine.

A Novel ND3 Mitochondrial DNA Mutation in Three Korean Children With Basal Ganglia Lesions and Complex I Deficiency

M. Hirano, J. Chae, E. Bonilla, 2007, Pediatric Research.

Paroxysmal Dyskinesia in Children: from Genes to the Clinic

J. Chae, Ki Joong Kim, B. Lim, 2018, Journal of clinical neurology.

A Familial Case of Childhood Ataxia with Leukodystrophy Due to Novel POLR1C Mutations

Murim Choi, Ji Yeon Han, J. Chae, 2019, Journal of clinical neurology.

Importance of early diagnosis in LMNA‐related muscular dystrophy for cardiac surveillance

M. Seong, J. Chae, A. Cho, 2019, Muscle & nerve.

Heterozygous TREM2 Mutation in Semantic Variant of Primary Progressive Aphasia

Y. Noh, Woo-Ram Kim, Ha-Eun Seo, 2020, Journal of clinical neurology.

Diagnostic Challenges Associated with GLUT1 Deficiency: Phenotypic Variabilities and Evolving Clinical Features

Murim Choi, J. Chae, Ki Joong Kim, 2019, Yonsei medical journal.

Atypical presentation of infantile‐onset farber disease with novel ASAH1 mutations

Murim Choi, Sung-Hye Park, J. Chae, 2016, American journal of medical genetics. Part A.

Alpha-thalassemia X-linked intellectual disability syndrome identified by whole exome sequencing in two boys with white matter changes and developmental retardation.

Murim Choi, J. Chae, Ki Joong Kim, 2015, Gene.

Clinical and mutational spectrum in Korean patients with Rubinstein–Taybi syndrome: The spectrum of brain MRI abnormalities

M. Seong, S. Park, J. Chae, 2015, Brain and Development.

Systematic analysis of inheritance pattern determination in genes that cause rare neurodevelopmental diseases

Jihoon G. Yoon, Jihoon G Yoon, Murim Choi, 2022, Frontiers in Genetics.

Biochemical and genetic analysis of Leigh syndrome patients in Korea

M. Hirano, J. Chae, Ki Joong Kim, 2008, Brain and Development.

Merosin-deficient congenital muscular dystrophy in Korea

June-Dong Park, Sung Hye Park, J. Chae, 2009, Brain and Development.

Genetic heterogeneity in Leigh syndrome: Highlighting treatable and novel genetic causes

Murim Choi, J. Chae, Ki Joong Kim, 2020, Clinical genetics.

Novel compound heterozygous ACO2 mutations in an infant with progressive encephalopathy: A newly identified neurometabolic syndrome

M. Seong, J. Chae, Ki Joong Kim, 2020, Brain and Development.

A 3‐Month‐Old Boy With Progressive Weakness

J. Ko, J. Chae, A. Cho, 2018, Brain pathology.

Comparison of Microbiota Variation in Korean Healthy Adolescents with Adults Suggests Notable Maturity Differences

S. Nam, Joo‐Won Jeong, Jin Sook Lee, 2018, Omics : a journal of integrative biology.

GABBR2 mutations determine phenotype in rett syndrome and epileptic encephalopathy

S. Mane, I. So, Hee-Jung Choi, 2017, Annals of neurology.

Oncogenic signaling pathways and hallmarks of cancer in Korean patients with acral melanoma

S. Nam, Kyungeun Kim, Sungwon Jung, 2023, Comput. Biol. Medicine.

Rapid Targeted Sequencing Using Dried Blood Spot Samples for Patients With Suspected Actionable Genetic Diseases

M. Seong, S. Park, J. Ko, 2022, Annals of laboratory medicine.

J. Chae, A. Cho, Ki Joong Kim, 2018, Muscle & nerve.

FOXG1 Mutation is a Low-Incidence Genetic Cause in Atypical Rett Syndrome

J. Chae, Ki Joong Kim, Y. Hwang, 2015, Child neurology open.

The Korean undiagnosed diseases program: lessons from a one-year pilot project

Murim Choi, M. Seong, S. Park, 2019, Orphanet Journal of Rare Diseases.

Consecutive analysis of mutation spectrum in the dystrophin gene of 507 Korean boys with Duchenne/Becker muscular dystrophy in a single center

Seung Jun Lee, Sung Im Cho, M. Seong, 2017, Muscle & nerve.

GM3 synthase deficiency due to ST3GAL5 variants in two Korean female siblings: Masquerading as Rett syndrome‐like phenotype

Murim Choi, J. Chae, Junghan Song, 2016, American journal of medical genetics. Part A.

Murim Choi, J. Chae, J. Cheon, 2017, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

Rare coincidence of familial central core disease and hemophagocytic lymphohistiocytosis

M. Seong, S. Park, J. Chae, 2014, Pediatrics international : official journal of the Japan Pediatric Society.

Leigh Syndrome in Childhood: Neurologic Progression and Functional Outcome

J. Chae, H. Hwang, Ki Joong Kim, 2016, Journal of clinical neurology.

Clinical and genetic characteristics of Korean patients with IARS2-related disorders

Murim Choi, M. Seong, J. Chae, 2019 .

Mutational analysis of paediatric patients with tuberous sclerosis complex in Korea: genotype and epilepsy.

M. Seong, S. Park, J. Chae, 2014, Epileptic disorders : international epilepsy journal with videotape.

A female carrier of ornithine carbamoyltransferase deficiency masquerading as attention deficit-hyperactivity disorder

June-Dong Park, Boong-Nyun Kim, J. Chae, 2014, Brain and Development.

Early-onset generalized dystonia starting in the lower extremities in a patient with a novel ANO3 variant.

Murim Choi, Han-Joon Kim, Dallah Yoo, 2018, Parkinsonism & related disorders.

Wide heterogeneity of congenital myasthenic syndromes: analysis of clinical experience in a tertiary center

J. Chae, A. Cho, H. Hwang, 2020, Journal of Genetic Medicine.

Menkes disease in Korea: ATP7A mutation and epilepsy phenotype

M. Seong, S. Park, J. Chae, 2015, Brain and Development.