Jung M. Ko

Seoul, Republic of Korea

Last Updated: 09/26/2026

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Found 153 publications

Beyond citrulline: The diagnostic accuracy of amino acid ratios in neonatal intrahepatic cholestasis caused by citrin deficiency.

Beyond citrulline: The diagnostic accuracy of amino acid ratios in neonatal intrahepatic cholestasis caused by citrin deficiency.

Journal: Molecular genetics and metabolism

Published: April 05, 2026

Clinical and Genetic Spectrum of Trichorhinophalangeal Syndrome Type I/III in 20 Children of Korean Origin.

Clinical and Genetic Spectrum of Trichorhinophalangeal Syndrome Type I/III in 20 Children of Korean Origin.

Journal: European journal of medical genetics

Published: March 20, 2026

Unraveling missing variants through target capture-based long-read sequencing in autosomal recessive disorders.

Unraveling missing variants through target capture-based long-read sequencing in autosomal recessive disorders.

Journal: European journal of human genetics : EJHG

Published: March 10, 2026

Early Versus Late Enzyme Replacement Therapy in Siblings With Morquio A Syndrome: Insights Into Therapeutic Timing.

Early Versus Late Enzyme Replacement Therapy in Siblings With Morquio A Syndrome: Insights Into Therapeutic Timing.

Journal: JIMD reports

Published: February 14, 2026

Comparison of bone age between both limbs in patients with congenital hemihyperplasia or hemihypoplasia: A retrospective study.

Comparison of bone age between both limbs in patients with congenital hemihyperplasia or hemihypoplasia: A retrospective study.

Journal: Journal of children's orthopaedics

Published: January 16, 2026

Transforming blood-derived episignatures into cell-type-agnostic classifiers: A shortcut to prenatal episignatures.

Transforming blood-derived episignatures into cell-type-agnostic classifiers: A shortcut to prenatal episignatures.

Journal: American journal of human genetics

Published: January 07, 2026

A next-generation episignature for Kabuki syndrome enables fine mapping of the impact of KMT2D variants to inform precision medicine.

A next-generation episignature for Kabuki syndrome enables fine mapping of the impact of KMT2D variants to inform precision medicine.

Journal: American journal of human genetics

Published: December 11, 2025

Identifying genetic causes and establishing a diagnostic approach for WES-negative pediatric population with neurodevelopmental disorder.

Identifying genetic causes and establishing a diagnostic approach for WES-negative pediatric population with neurodevelopmental disorder.

Journal: European journal of human genetics : EJHG

Published: September 20, 2025

KMT2A and KMT2B episignatures address diagnostic challenges associated with rare neurodevelopmental disorders.

KMT2A and KMT2B episignatures address diagnostic challenges associated with rare neurodevelopmental disorders.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: September 17, 2025

Two-year structural skeletal outcomes of burosumab therapy in pediatric X-linked hypophosphatemia: A radiographic cohort study.

Two-year structural skeletal outcomes of burosumab therapy in pediatric X-linked hypophosphatemia: A radiographic cohort study.

Journal: Journal of children's orthopaedics

Published: September 08, 2025

Clinical and Genetic Significance of Chromosomal Microarray Screening of Asymptomatic Newborns.

Clinical and Genetic Significance of Chromosomal Microarray Screening of Asymptomatic Newborns.

Journal: Journal of clinical laboratory analysis

Published: July 07, 2025

Wiedemann-Steiner syndrome: description of genetic profiles and clinical phenotypes of 10 Korean pediatric patients.

Wiedemann-Steiner syndrome: description of genetic profiles and clinical phenotypes of 10 Korean pediatric patients.

Journal: BMC medical genomics

Published: April 05, 2025

Showing 1-12 of 153

Last Updated: 09/26/2026