Jong-won W. Kim

Seoul, Republic of Korea

Last Updated: 09/26/2026

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Found 74 publications

Correction to: Whole Genome Sequencing in 25 Families with Suspected Inborn Errors of Immunity: Diagnostic Yield and Clinical Relevance of Genome-wide Analysis.

Correction to: Whole Genome Sequencing in 25 Families with Suspected Inborn Errors of Immunity: Diagnostic Yield and Clinical Relevance of Genome-wide Analysis.

Journal: Journal of clinical immunology

Published: June 15, 2026

Correction: Clinical variant interpretation comparing two saturation genome editing-based functional studies for BRCA2.

Correction: Clinical variant interpretation comparing two saturation genome editing-based functional studies for BRCA2.

Journal: Frontiers in genetics

Published: May 30, 2026

Recombinant GBA1 alleles presenting as exon-level deletions by short-read NGS in Parkinson disease: Implications for diagnostic approaches.

Recombinant GBA1 alleles presenting as exon-level deletions by short-read NGS in Parkinson disease: Implications for diagnostic approaches.

Journal: Journal of human genetics

Published: February 19, 2026

Clinical variant interpretation comparing two saturation genome editing-based functional studies for BRCA2.

Clinical variant interpretation comparing two saturation genome editing-based functional studies for BRCA2.

Journal: Frontiers in genetics

Published: February 04, 2026

Necessity for Development and Validation of Comprehensive Circulating Tumor DNA Profiling Panels.

Necessity for Development and Validation of Comprehensive Circulating Tumor DNA Profiling Panels.

Journal: Annals of laboratory medicine

Published: January 28, 2026

Whole Genome Sequencing in 25 Families with Suspected Inborn Errors of Immunity: Diagnostic Yield and Clinical Relevance of Genome-wide Analysis.

Whole Genome Sequencing in 25 Families with Suspected Inborn Errors of Immunity: Diagnostic Yield and Clinical Relevance of Genome-wide Analysis.

Journal: Journal of clinical immunology

Published: July 08, 2025

Age-Stratified Genetic Spectrum of Retinitis Pigmentosa in Korean Patients: Predominance of RPGR Variants in Early-Onset Disease.

Age-Stratified Genetic Spectrum of Retinitis Pigmentosa in Korean Patients: Predominance of RPGR Variants in Early-Onset Disease.

Journal: Annals of laboratory medicine

Published: March 18, 2025

Reassessment of variants of uncertain significance in tumor suppressor genes using new ClinGen PP1/PP4 criteria guidance.

Reassessment of variants of uncertain significance in tumor suppressor genes using new ClinGen PP1/PP4 criteria guidance.

Journal: European journal of human genetics : EJHG

Published: December 02, 2024

Carrier Frequency and Prevalence of Citrin Deficiency in East Asians and Koreans Based on Comprehensive Analysis of Pathogenic SLC25A13 Variants.

Carrier Frequency and Prevalence of Citrin Deficiency in East Asians and Koreans Based on Comprehensive Analysis of Pathogenic SLC25A13 Variants.

Journal: Annals of laboratory medicine

Published: November 26, 2024

Reassessment of FBN1 variants of uncertain significance using updated ClinGen guidance for PP1/BS4 and PP4 criteria.

Reassessment of FBN1 variants of uncertain significance using updated ClinGen guidance for PP1/BS4 and PP4 criteria.

Journal: European journal of human genetics : EJHG

Published: September 25, 2024

A spectrum of nonsense-mediated mRNA decay efficiency along the degree of mutational constraint.

A spectrum of nonsense-mediated mRNA decay efficiency along the degree of mutational constraint.

Journal: Communications biology

Published: April 07, 2024

Identification of diagnostic challenges in RP1 Alu insertion and strategies for overcoming them.

Identification of diagnostic challenges in RP1 Alu insertion and strategies for overcoming them.

Journal: Scientific reports

Published: March 20, 2024

Showing 1-12 of 74

Last Updated: 09/26/2026