Publications by authors named "Man-Jin Kim"

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Contribution of rare coding variants to microcephaly in individuals with neurodevelopmental disorders.
Jihoon G Yoon, Hyunsoo Jang, Seungbok Lee, Se Song Jang, Soojin Park, Minji Kim, Man Jin Kim, Soo Yeon Kim, Woo Joong Kim, Ki Joong Kim

Genome Med· August 2025

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High-resolution Chromosomal Microarray with Diagnostic Potential for Detecting Exon-level Copy Number Variations Using Targeted and Non-targeted Approaches.
Yeseul Kim, Jee-Soo Lee, Boram Kim, Man Jin Kim, Sung Im Cho, Ji Yeon Kim

Ann Lab Med· July 2025

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Identification of a novel non-coding deletion in Allan-Herndon-Dudley syndrome by long-read HiFi genome sequencing.
Jihoon G Yoon, Seungbok Lee, Soojin Park, Se Song Jang, Jaeso Cho, Man Jin Kim, Soo Yeon Kim, Woo Joong Kim

BMC Med Genomics· March 2025

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Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay Masquerading as Charcot-Marie-Tooth Disease: A Case Study and Literature Review of Korean Patients.
Yongmoo Kim, Seungbok Lee, Jae So Cho, Jihoon G Yoon, Sheehyun Kim, Man Jin Kim, Manho Kim

J Mov Disord· January 2025

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Implementing genomic medicine in clinical practice for adults with undiagnosed rare diseases.
Jong Hyeon Ahn, Jihoon G Yoon, Jaeso Cho, Seungbok Lee, Sheehyun Kim, Man Jin Kim, Soo Yeon Kim, Han-Joon Kim

NPJ Genom Med· November 2024

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Genetic profiling and diagnostic strategies for patients with ectodermal dysplasias in Korea.
Man Jin Kim, Jee-Soo Lee, Seung Won Chae, Sung Im Cho, Jangsup Moon

Orphanet J Rare Dis· September 2024

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Recurrent fever of unknown origin and unexplained bacteremia in a patient with a novel 4.5 Mb microdeletion in Xp11.23-p11.22.
Cho-Rong Lee, Man Jin Kim, Sang-Heon Park, Sheehyun Kim, Soo Yeon Kim

Sci Rep· August 2024

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Prevalence and Characterization of GGC Repeat Expansions in Koreans: From a Hospital Cohort Analysis to a Population-Wide Study.
Seungbok Lee, Jihoon G Yoon, Juhyeon Hong, Taekeun Kim, Narae Kim, Sheehyun Kim, Man Jin Kim, Soo Yeon Kim, Han-Joon Kim

Neurol Genet· June 2024

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Characteristics of chronic enteropathy associated with SLCO2A1 gene (CEAS) in children, a unique type of monogenic very early-onset inflammatory bowel disease.
Jin Gyu Lim, Jae Sung Ko, Jung Min Ko, Hyun Young Kim, Man Jin Kim

BMC Pediatr· June 2024

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The First Case of Congenital Nephrogenic Diabetes Insipidus Caused by Disruption Because of 4q25 Insertional Translocation.
Boram Kim, Yo Han Ahn, Jae Hyeon Park, Han Sol Lim, Seung Won Chae, Man Jin Kim

Ann Lab Med· May 2024

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Diagnostic uplift through the implementation of short tandem repeat analysis using exome sequencing.
Jihoon G Yoon, Seungbok Lee, Jaeso Cho, Narae Kim, Sheehyun Kim, Man Jin Kim, Soo Yeon Kim

Eur J Hum Genet· May 2024

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Utility of Next-Generation Sequencing-Based Chimerism Analysis for Early Relapse Prediction following Allogenic Hematopoietic Cell Transplantation.
Heerah Lee, Seung-Won Chae, Sung Im Cho, Jee-Soo Lee, Man Jin Kim

Int J Mol Sci· February 2024

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Variant Allele Frequency of Pseudogene-Related Variants in Short-read Next-Generation Sequencing Data May Mislead Genetic Diagnosis: A Case of Shwachman-Diamond Syndrome.
Heerah Lee, Jung Ae Lee, Hyesu Lee, Jee-Soo Lee, Jung Min Ko, Man Jin Kim

Ann Lab Med· November 2023

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The Korean Genetic Diagnosis Program for Rare Disease Phase II: outcomes of a 6-year national project.
Man Jin Kim, Boram Kim, Heerah Lee, Jee-Soo Lee, Seung Won Chae, Soo Yeon Kim

Eur J Hum Genet· October 2023

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Epilepsy phenotype and gene ontology analysis of the 129 genes in a large neurodevelopmental disorders cohort.
Young Jun Ko, Soo Yeon Kim, Seungbok Lee, Jihoon G Yoon, Man Jin Kim, Hunmin Kim, Ki Joong Kim, Kwangsoo Kim

Front Neurol· August 2023

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Expansion of clinico-genetic spectrum of disease: a literature review with two additional cases.
Jaeso Cho, Jihoon G Yoon, Seungbok Lee, Sheehyun Kim, Soo Yeon Kim, Man Jin Kim

Brain Commun· August 2023

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Prevalence and founder effect of DRC1 exon 1-4 deletion in Korean patients with primary ciliary dyskinesia.
Man Jin Kim, Sheehyun Kim, Seung Won Chae, Seungbok Lee, Jihoon G Yoon, Boram Kim

J Hum Genet· June 2023

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Rapid Targeted Sequencing Using Dried Blood Spot Samples for Patients With Suspected Actionable Genetic Diseases.
Man Jin Kim, Soo Yeon Kim, Jin Sook Lee, Sanggoo Kang, Lae-Jeong Park, Taehyung Kim

Ann Lab Med· May 2023

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The spectrum of imaging manifestations of Gorham-Stout disease: a novel dynamic contrast-enhanced MR lymphangiography.
Yuna Lee, Seunghyun Lee, Saebeom Hur, Yun Soo Jeong, Dong In Suh, Man Jin Kim

Orphanet J Rare Dis· April 2023

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The First Korean Case of VEXAS Syndrome Caused by a Somatic Variant.
Jihoon G Yoon, Seungbok Lee, Sheehyun Kim, Man Jin Kim, Yoon Hwan Chang

Ann Lab Med· March 2023

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ITDetect: a method to detect internal tandem duplication of FMS-like tyrosine kinase (FLT3) from next-generation sequencing data with high sensitivity and clinical application.
Sungyoung Lee, Choong-Hyun Sun, Heejun Jang, Daeyoon Kim, Sung-Soo Yoon, Man Jin Kim

BMC Bioinformatics· February 2023

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First Cases of Spinocerebellar Ataxia 42 in Two Korean Families.
Hyoshin Son, Jihoon G Yoon, Man Jin Kim, Jangsup Moon, Han-Joon Kim

J Mov Disord· January 2023

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Novel THPO variant in hereditary thrombocytopenia: A potential candidate variant for predisposition to myeloid neoplasm.
Seok Ryun Kwon, Man Jin Kim, Young-Eun Lee, Jiwon Yun, Da-Jeong Jeong

PLoS One· December 2022

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The Korean undiagnosed diseases program phase I: expansion of the nationwide network and the development of long-term infrastructure.
Soo Yeon Kim, Seungbok Lee, Hyewon Woo, Jiyeon Han, Young Jun Ko, Ki Joong Kim, Hunmin Kim, Man Jin Kim, Jon Soo Kim, Won Seop Kim, Young Ok Kim, Young-Joon Kim

Orphanet J Rare Dis· October 2022

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Systematic analysis of inheritance pattern determination in genes that cause rare neurodevelopmental diseases.
Soojin Park, Se Song Jang, Seungbok Lee, Minsoo Kim, Hyungtai Sim, Soo Yeon Kim, Man Jin Kim, Woo Joong Kim, Ki Joong Kim

Front Genet· September 2022

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