Sung I. Cho

Seoul, Republic of Korea

Last Updated: 09/26/2026

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Found 65 publications

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

Integrative analysis of in silico predictions and clinical evidence to delineate the capability of HiFi long-read sequencing in paralogous genes.

Integrative analysis of in silico predictions and clinical evidence to delineate the capability of HiFi long-read sequencing in paralogous genes.

Journal: NPJ genomic medicine

Published: November 07, 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

Functional analysis of BRCA1 and BRCA2 splicing variants using a minigene assay.

Functional analysis of BRCA1 and BRCA2 splicing variants using a minigene assay.

Journal: Human genomics

Published: July 30, 2025

High-resolution Chromosomal Microarray with Diagnostic Potential for Detecting Exon-level Copy Number Variations Using Targeted and Non-targeted Approaches.

High-resolution Chromosomal Microarray with Diagnostic Potential for Detecting Exon-level Copy Number Variations Using Targeted and Non-targeted Approaches.

Journal: Annals of laboratory medicine

Published: March 04, 2025

Clinical usefulness of next-generation sequencing-based target gene sequencing in diagnosis of inherited bone marrow failure syndrome.

Clinical usefulness of next-generation sequencing-based target gene sequencing in diagnosis of inherited bone marrow failure syndrome.

Journal: Annals of hematology

Published: December 23, 2024

Optimising the molecular investigation of the FSHD locus: an integrated workflow using single molecule optical mapping and Southern blot analysis.

Optimising the molecular investigation of the FSHD locus: an integrated workflow using single molecule optical mapping and Southern blot analysis.

Journal: Journal of medical genetics

Published: September 12, 2024

Genetic Landscape and Clinical Manifestations of Multiple Endocrine Neoplasia Type 1 in a Korean Cohort: A Multicenter Retrospective Analysis.

Genetic Landscape and Clinical Manifestations of Multiple Endocrine Neoplasia Type 1 in a Korean Cohort: A Multicenter Retrospective Analysis.

Journal: Endocrinology and metabolism (Seoul, Korea)

Published: April 09, 2024

A Family With Nail-Patella Syndrome Caused by a Germline Mosaic Deletion of LMX1B.

A Family With Nail-Patella Syndrome Caused by a Germline Mosaic Deletion of LMX1B.

Journal: Annals of laboratory medicine

Published: March 26, 2024

Utility of Next-Generation Sequencing-Based Chimerism Analysis for Early Relapse Prediction following Allogenic Hematopoietic Cell Transplantation.

Utility of Next-Generation Sequencing-Based Chimerism Analysis for Early Relapse Prediction following Allogenic Hematopoietic Cell Transplantation.

Journal: International journal of molecular sciences

Published: February 02, 2024

Genetic profiling and diagnostic strategies for patients with ectodermal dysplasias in Korea.

Genetic profiling and diagnostic strategies for patients with ectodermal dysplasias in Korea.

Journal: Orphanet journal of rare diseases

Published: September 06, 2023

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

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

Journal: European journal of human genetics : EJHG

Published: March 07, 2023

Showing 1-12 of 65

Last Updated: 09/26/2026