J. Ko

J. Ko, H. Yoo, H. Jin, 2012, Experimental and clinical endocrinology & diabetes : official journal, German Society of Endocrinology [and] German Diabetes Association.

Somatic uniparental disomy mitigates the most damaging EFL1 allele combination in Shwachman-Diamond syndrome.

Murim Choi, J. Seong, J. Ko, 2021, Blood.

Somatic uniparental disomy with a rare EFL1 variant causes Shwachman-Diamond syndrome through dysregulating ribosomal protein synthesis

Chang Hoon Shin, Murim Choi, J. Ko, 2018, bioRxiv.

Six cases of citrin deficiency in Korea.

Ju-Hyun Kim, T. Saheki, J. Ko, 2007, International journal of molecular medicine.

A 3‐Month‐Old Boy With Progressive Weakness

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

DeviCNV: detection and visualization of exon-level copy number variants in targeted next-generation sequencing data

Seong-Hyeuk Nam, Inho Park, Eunjung Lee, 2018, BMC Bioinformatics.

EHMT1 pathogenic variants and 9q34.3 microdeletions share altered DNA methylation patterns in patients with Kleefstra syndrome

S. Scherer, C. Cytrynbaum, R. Weksberg, 2020 .

Partial Tetrasomy of Chromosome 22q11.1 Resulting from a Supernumerary Isodicentric Marker Chromosome in a Boy with Cat-eye Syndrome

Sang-Jin Park, J. Ko, K. Pai, 2010, Journal of Korean medical science.

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.

Targeted exome sequencing resolves allelic and the genetic heterogeneity in the genetic diagnosis of nephronophthisis-related ciliopathy

W. Park, J. Ko, M. Cho, 2016, Experimental & Molecular Medicine.

Identification of Two Novel BCKDHB Mutations in Korean Siblings with Maple Syrup Urine Disease Showing Mild Clinical Presentation

J. Ko, H. Cheong, C. Shin, 2014 .

PTPN11, SOS1, KRAS, and RAF1 gene analysis, and genotype–phenotype correlation in Korean patients with Noonan syndrome

J. Ko, H. Yoo, Gu-Hwan Kim, 2008, Journal of Human Genetics.

Clinical implementation of whole-genome array CGH as a first-tier test in 5080 pre and postnatal cases

Sang-Jin Park, Hyon J. Kim, J. Ko, 2011, Molecular Cytogenetics.

KISS1 Gene Polymorphisms in Korean Girls with Central Precocious Puberty

J. Ko, Y. Rhie, K. Lee, 2014, Journal of Korean medical science.

Paternal Uniparental Disomy of the Entire Chromosome 20 in a Child with Beckwith-Wiedemann Syndrome

R. Weksberg, S. Choufani, C. Shuman, 2021, Genes.

Clinical and Molecular Characteristics of GNAS Inactivation Disorders Observed in 18 Korean Patients.

J. Ko, T. Cho, C. Shin, 2019, Experimental and clinical endocrinology & diabetes : official journal, German Society of Endocrinology [and] German Diabetes Association.

A case of a Korean newborn with IMAGe association presenting with hyperpigmented skin at birth

J. Ko, H. Yoo, Gu-Hwan Kim, 2007, European Journal of Pediatrics.

Korean Circulation Journal

Jung Min Ko, J. Ko, Emrah Ermiş, 2022 .

First identified Korean family with Sotos syndrome caused by a novel intragenic mutation in NSD1.

J. Ko, Y. Sohn, So Hyun Park, 2014, Annals of clinical and laboratory science.

Clinical and genetic spectrum of 18 unrelated Korean patients with Sotos syndrome: frequent 5q35 microdeletion and identification of four novel NSD1 mutations

Hyun-Seok Jin, Seon-Yong Jeong, E. Jung, 2012, Journal of Human Genetics.

Skewed X-Chromosome Inactivation in a Korean Girl with Severe Mucopolysaccharidosis Type II

M. Seong, J. Ko, H. Kim, 2022, Annals of laboratory medicine.

Detailed analysis of phenotypes and genotypes in megalencephaly-capillary malformation-polymicrogyria syndrome caused by somatic mosaicism of PIK3CA mutations

Chang Ho Shin, M. Seong, S. Park, 2020, Orphanet Journal of Rare Diseases.

A New Integrated Newborn Screening Workflow Can Provide a Shortcut to Differential Diagnosis and Confirmation of Inherited Metabolic Diseases

Inho Park, Yoonjung Kim, Kyung-A Lee, 2018, Yonsei medical journal.

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

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

Living Donor Liver Transplantation for an Infant with Osteogenesis Imperfecta and Intrahepatic Cholestasis: Report of a Case

J. Ko, T. Cho, Y. Choi, 2014, Journal of Korean medical science.

The First Korean Case of Griscelli Syndrome Type 2 With Hemophagocytic Lymphohistiocytosis and Partial Albinism

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

Loss of podocalyxin causes a novel syndromic type of congenital nephrotic syndrome

Murim Choi, J. Ko, H. Cheong, 2017, Experimental & Molecular Medicine.

Clinical and molecular delineation of mandibulofacial dysostosis with microcephaly in six Korean patients: When to consider EFTUD2 analysis?

M. Seong, J. Ko, J. Chae, 2022, European journal of medical genetics.

Combined lung and liver transplantation for noncirrhotic portal hypertension with severe hepatopulmonary syndrome in a patient with dyskeratosis congenita

J. Ko, June-Dong Park, D. Suh, 2020, Pediatric transplantation.

The natural history and prognostic factors of Graves' disease in Korean children and adolescents

J. Ko, C. Cheon, H. Yoo, 2010 .

Genetic Syndromes Associated with Craniosynostosis

J. Ko, 2016, Journal of Korean Neurosurgical Society.

A Case of Apert Syndrome with a P253R Mutation on FGFR2 Exon VIII

J. Ko, C. Cheon, Young-Jin Lee, 2010 .

SOFT syndrome caused by compound heterozygous mutations of POC1A and its skeletal manifestation

Murim Choi, J. Ko, T. Cho, 2016, Journal of Human Genetics.

Kabuki syndrome: clinical and molecular characteristics

J. Ko, C. Cheon, 2015, Korean journal of pediatrics.

Radiographic Factors for Progression of Thoracolumbar Kyphosis in Achondroplasia Patients after Walking Age: A Generalized Estimating Equation Analysis

J. Ko, Hyoungmin Kim, B. Chang, 2022, Clinics in orthopedic surgery.

Association between insulin-like growth factor binding protein-2 levels and cardiovascular risk factors in Korean children.

J. Ko, I. Hwang, Seung Yang, 2012, Endocrine journal.

A Korean child diagnosed with malonic aciduria harboring a novel start codon mutation following presentation with dilated cardiomyopathy

J. Ko, Junghan Song, Seung Hoon Lee, 2020, Molecular genetics & genomic medicine.

Clinical Manifestations and Outcomes of 20 Korean Hypochondroplasia Patients with the FGFR3 N540K variant

J. Ko, C. Shin, H. Kim, 2022, Experimental and Clinical Endocrinology & Diabetes.

Distinct neurological features in a patient with Schinzel–Giedion syndrome caused by a recurrent SETBP1 mutation

J. Ko, J. Chae, Ki Joong Kim, 2013, Child's Nervous System.

Cardiovascular Characteristics and Progressions of Hypertrophic Cardiomyopathy and Pulmonary Stenosis in RASopathy Syndrome in the Genomic Era.

J. Ko, E. Bae, Sang Yun Lee, 2023, The Journal of pediatrics.

Two cases of Antley-Bixler syndrome caused by mutations in different genes, FGFR2 and POR

J. Ko, C. Shin, S. Yang, 2016 .

Erratum: A Phase 2 Multi-center, Open-label, Switch-over Trial to Evaluate the Safety and Efficacy of Abcertin® in Patients with Type 1 Gaucher Disease

J. Ko, Y. Sohn, H. Yoo, 2015, Journal of Korean medical science.

Common exon 3 polymorphism of the GH receptor (GHR) gene and effect of GH therapy on growth in Korean children with idiopathic short stature (ISS)

J. Ko, H. Yoo, Jung-young Park, 2009, Clinical endocrinology.

Monochorionic dizygotic twins with discordant sex and confined blood chimerism

S. Oh, M. Seong, S. Park, 2014, European Journal of Pediatrics.

Importance of extracutaneous organ involvement in determining the clinical severity and prognosis of incontinentia pigmenti caused by mutations in the IKBKG gene

Hyun Beom Song, M. Seong, J. Ko, 2021, Experimental dermatology.

A case of Sotos syndrome presented with end-stage renal disease due to the posterior urethral valve

J. Ko, H. Cheong, I. Ha, 2014 .

A newborn girl with harlequin ichthyosis genetically confirmed by ABCA12 analysis

J. Ko, Jihye Kim, E. Kim, 2019 .

The First Korean Case of Lysinuric Protein Intolerance: Presented with Short Stature and Increased Somnolence

M. Seong, S. Park, J. Ko, 2012, Journal of Korean medical science.

Genotype and clinical features of Korean patients with methylmalonic aciduria and propionic aciduria

J. Ko, H. Yoo, Jae‐Min Kim, 2008 .

Wiedemann-Steiner Syndrome With 2 Novel KMT 2 A Mutations : Variable Severity in Psychomotor Development and Musculoskeletal Manifestation

Murim Choi, J. Ko, T. Cho, 2016 .

Diagnosis and Management of Hip Dislocation in Patients with Kabuki Syndrome

Chang Ho Shin, C. Chung, M. Park, 2019, Clinics in orthopedic surgery.

A 9-year-old Korean girl with Fontaine progeroid syndrome: a case report with further phenotypical delineation and description of clinical course during long-term follow-up

J. Ko, C. Shin, J. Ryu, 2019, BMC Medical Genetics.

Identification of KMT2D and KDM6A mutations by exome sequencing in Korean patients with Kabuki syndrome

Hyun-Seok Jin, Seon-Yong Jeong, J. Ko, 2014, Journal of Human Genetics.

Clinical outcomes and the mutation spectrum of the OTC gene in patients with ornithine transcarbamylase deficiency

J. Ko, C. Cheon, H. Yoo, 2015, Journal of Human Genetics.

Acute Respiratory Distress Syndrome in Children

J. Ko, Eun-Hee Lee, E. Ha, 2007 .

Identification of a Novel Mutation of CFTR Gene in a Korean Patient with Cystic Fibrosis

J. Ko, S. Hong, H. Yoo, 2008, Journal of Korean medical science.

The strong association of left-side heart anomalies with Kabuki syndrome

J. Ko, E. Bae, B. Kwon, 2015, Korean journal of pediatrics.

Molecular diagnosis of Niemann-Pick type C presenting with neonatal cholestasis and hepatosplenomegaly

J. Ko, H. Yoo, Gu-Hwan Kim, 2007 .

The GBA p.G85E mutation in Korean patients with non-neuronopathic Gaucher disease: founder and neuroprotective effects

J. Ko, Y. Sohn, C. Cheon, 2020, Orphanet Journal of Rare Diseases.

Deletion of exons 16-17b of CFTR is frequently identified in Korean patients with cystic fibrosis.

M. Seong, S. Park, J. Ko, 2019, European journal of medical genetics.

Genetic and clinical heterogeneity in Korean patients with Rubinstein–Taybi syndrome

J. Ko, J. Chae, B. Lim, 2021, Molecular genetics & genomic medicine.

A Case Report of Rubinstein-Taybi Syndrome Presented with Extensive Keloid Formation and Review of Literature

J. Ko, J. Shin, D. Y. Lee, 2023, Annals of Dermatology.

A novel NOTCH2 mutation identified in a Korean family with Hajdu-Cheney syndrome showing phenotypic diversity.

W. Park, J. Ko, T. Cho, 2015, Annals of clinical and laboratory science.

Comparative study of lumbar magnetic resonance imaging and myelography in young soldiers with herniated lumbar disc.

S. Choi, J. Ko, N. Seong, 2010, Journal of Korean Neurosurgical Society.

Hyperammonemic Encephalopathy Mimicking Ornithine Transcarbamylase Deficiency in Fibrolamellar Hepatocellular Carcinoma: Successful Treatment with Continuous Venovenous Hemofiltration and Ammonia Scavengers

J. Ko, J. Lee, H. Jin, 2020, Cancer research and treatment : official journal of Korean Cancer Association.

Identification of novel mutations in the VPS33B gene involved in arthrogryposis, renal dysfunction, and cholestasis syndrome

M. Seong, J. Ko, S. Park, 2015, Clinical genetics.

Novel mutation in SLC6A19 causing late-onset seizures in Hartnup disorder.

J. Ko, C. Cheon, H. Yoo, 2010, Pediatric neurology.

Multicenter Surveillance of Cystic Fibrosis in Korean Children

J. Ko, Jinho Yu, K. Kim, 2022, Allergy, asthma & immunology research.

Lentigo maligna in a patient with xeroderma pigmentosum, variant type: A case report with dermoscopic findings and review of the literature

M. Seong, S. Park, J. Ko, 2020, Photodermatology, photoimmunology & photomedicine.

Correlation Between Unidentified Bright Objects on Brain Magnetic Resonance Imaging (MRI) and Cerebral Glucose Metabolism in Patients with Neurofibromatosis Type 1

Su Jin Lee, Y. An, Seon-Yong Jeong, 2012 .

Cholesterol side-chain cleavage enzyme deficiency caused by a novel homozygous variant in P450 side-chain cleavage enzyme gene (CYP11A1) in a 46,XX Korean girl

J. Ko, Y. Jung, Changwon Choi, 2023, Journal of Genetic Medicine.

Acrodysostosis Associated with Symptomatic Cervical Spine Stenosis

Hyon J. Kim, J. Ko, Kyu-sung Kwack, 2010 .

DeviCNV: detection and visualization of exon-level copy number variants in targeted next-generation sequencing data

Eunjung Lee, Inho Park, Jong-Won Kim, 2018, BMC Bioinformatics.

Uncovering the phenotypic consequences of multi-locus imprinting disturbances using genome-wide methylation analysis in genomic imprinting disorders

J. Ko, C. Shin, H. Kim, 2023, PloS one.

The Korean Genetic Diagnosis Program for Rare Disease Phase II: outcomes of a 6-year national project

Sung Im Cho, M. Seong, S. Park, 2023, European Journal of Human Genetics.

Variant Allele Frequency of Pseudogene-Related Variants in Short-read Next-Generation Sequencing Data May Mislead Genetic Diagnosis: A Case of Shwachman-Diamond Syndrome

M. Seong, J. Ko, Jee-Soo Lee, 2023, Annals of laboratory medicine.

Two Korean girls with complete androgen insensitivity syndrome diagnosed in infancy

J. Ko, C. Shin, S. Yang, 2018, Annals of pediatric endocrinology & metabolism.

A 7-year-old girl presenting with a Bartter-like phenotype: Answers

J. Ko, H. Cheong, Sung-Hye Park, 2017, Pediatric Nephrology.

Rare cases of congenital arthrogryposis multiplex caused by novel recurrent CHRNG mutations

Murim Choi, J. Ko, Y. Shin, 2015, Journal of Human Genetics.

A Korean Child with Schaaf-Yang Syndrome Presented with Hearing Impairment: A Case Report

J. Ko, E. Kim, S. Shin, 2022, Neonatal Medicine.

Phenotypic and Cytogenetic Delineation of Six Korean Children with Kabuki Syndrome

Hyon J. Kim, J. Ko, Jeong-Min Hwang, 2010 .

Novel HEXA variants in Korean children with Tay–Sachs disease with regression of neurodevelopment from infancy

M. Seong, J. Ko, J. Chae, 2021, Molecular genetics & genomic medicine.

A Case of Non-Immune Hydrops Fetalis due to Umbilical Venous Malformation and Noonan Syndrome

J. Ko, E. Kim, S. Shin, 2013 .

Fuchs Endothelial Corneal Dystrophy in a Heterozygous Carrier of Congenital Hereditary Endothelial Dystrophy Type 2 with a Novel Mutation in SLC4A11

J. Ko, H. Tchah, Jae-hyung Kim, 2015, Ophthalmic genetics.

Somatic uniparental disomy mitigates the most damaging EFL1 allele combination in Shwachman-Diamond syndrome.

Chang Hoon Shin, Murim Choi, J. Seong, 2021, Blood.

Clinical features and outcomes of holoprosencephaly in Korea.

J. Ko, S. Kim, 2010, Pediatric neurology.

Pachyonychia Congenita with a Novel Variant in the KRT16 Gene, c.348_379delinsAA

J. Ko, K. Hur, J. Mun, 2022, Annals of dermatology.

Gorham-Stout Syndrome with Focal Segmental Glomerulosclerosis: A Case Report

J. Kim, K. Moon, J. Ko, 2020 .

Multilevel Airway Stenosis Being Bypassed by a Customized Tracheostomy Tube in an Infant with Myhre Syndrome.

J. Ko, S. Kwon, Ji Hye Kim, 2021, Pediatric allergy, immunology, and pulmonology.

Clinical Characterization and Analysis of the SRD5A2 Gene in Six Korean Patients with 5α-Reductase Type 2 Deficiency

J. Ko, C. Cheon, H. Yoo, 2010, Hormone Research in Paediatrics.

Molecular Genetic Analysis of TWIST1 and FGFR3 Genes in Korean Patients with Coronal Synostosis: Identification of Three Novel TWIST1 Mutations

Seon-Yong Jeong, J. Ko, D. Park, 2012, Plastic and reconstructive surgery.

Hyperammonemia in a case of herpes simplex and anti-N-methyl-d-aspartate receptor encephalitis

J. Ko, J. Lee, J. Chae, 2019, Brain and Development.