Man J. Kim

Seoul, Republic of Korea

Last Updated: 09/26/2026

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Found 93 publications

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

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

Diagnostic Complexity of Pediatric Hemophagocytic Lymphohistiocytosis With Central Nervous System Involvement.

Diagnostic Complexity of Pediatric Hemophagocytic Lymphohistiocytosis With Central Nervous System Involvement.

Journal: Pediatric neurology

Published: November 25, 2024

Contribution of rare coding variants to microcephaly in individuals with neurodevelopmental disorders.

Contribution of rare coding variants to microcephaly in individuals with neurodevelopmental disorders.

Journal: Genome medicine

Published: November 08, 2024

Implementing genomic medicine in clinical practice for adults with undiagnosed rare diseases.

Implementing genomic medicine in clinical practice for adults with undiagnosed rare diseases.

Journal: NPJ genomic medicine

Published: June 05, 2024

Identification of a novel non-coding deletion in Allan-Herndon-Dudley syndrome by long-read HiFi genome sequencing.

Identification of a novel non-coding deletion in Allan-Herndon-Dudley syndrome by long-read HiFi genome sequencing.

Journal: BMC medical genomics

Published: March 26, 2024

Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay Masquerading as Charcot-Marie-Tooth Disease: A Case Study and Literature Review of Korean Patients.

Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay Masquerading as Charcot-Marie-Tooth Disease: A Case Study and Literature Review of Korean Patients.

Journal: Journal of movement disorders

Published: March 03, 2024

Characteristics of chronic enteropathy associated with SLCO2A1 gene (CEAS) in children, a unique type of monogenic very early-onset inflammatory bowel disease.

Characteristics of chronic enteropathy associated with SLCO2A1 gene (CEAS) in children, a unique type of monogenic very early-onset inflammatory bowel disease.

Journal: BMC pediatrics

Published: February 28, 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

Recurrent fever of unknown origin and unexplained bacteremia in a patient with a novel 4.5 Mb microdeletion in Xp11.23-p11.22.

Recurrent fever of unknown origin and unexplained bacteremia in a patient with a novel 4.5 Mb microdeletion in Xp11.23-p11.22.

Journal: Scientific reports

Published: January 24, 2024

Prevalence and Characterization of NOTCH2NLC GGC Repeat Expansions in Koreans: From a Hospital Cohort Analysis to a Population-Wide Study.

Prevalence and Characterization of NOTCH2NLC GGC Repeat Expansions in Koreans: From a Hospital Cohort Analysis to a Population-Wide Study.

Journal: Neurology. Genetics

Published: October 31, 2023

Diagnostic uplift through the implementation of short tandem repeat analysis using exome sequencing.

Diagnostic uplift through the implementation of short tandem repeat analysis using exome sequencing.

Journal: European journal of human genetics : EJHG

Published: September 14, 2023

Showing 1-12 of 93

Last Updated: 09/26/2026