Jihoon G. Yoon
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View article: A Duplex qPCR Assay Targeting the fadA Gene Enables Robust Detection of Fusobacterium in Clinical Samples
A Duplex qPCR Assay Targeting the fadA Gene Enables Robust Detection of Fusobacterium in Clinical Samples Open
Fusobacterium nucleatum (Fn) is increasingly recognized as a cancer-associated bacterium, yet reliable quantification in human specimens is challenging due to low bacterial burden and abundant host DNA. We analyzed 145 Fusobacterium genome…
View article: A predictive framework for stop-loss variants with C-terminal extensions
A predictive framework for stop-loss variants with C-terminal extensions Open
Stop codons dictate translation termination, and variants occurring at these sites can result in stop-loss variants, leading to C-terminal extensions with potentially significant functional consequences. Despite their clinical relevance, e…
View article: Impacts of population ageing on bloodstream infection epidemiology and outcomes: A machine learning and statistical modelling study
Impacts of population ageing on bloodstream infection epidemiology and outcomes: A machine learning and statistical modelling study Open
Population ageing is associated with shifts in BSI epidemiology and outcomes. Our findings suggest that tailored antimicrobial stewardship and infection management are necessary to address the burden of BSIs in ageing populations.
View article: 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 Open
Background Allan-Herndon-Dudley syndrome (AHDS) is an X-linked disorder caused by pathogenic variants in the SLC16A2 gene. Although most reported variants are found in protein-coding regions or adjacent junctions, structural variations (SV…
View article: Digenic impairments of haploinsufficient genes in patients with craniosynostosis
Digenic impairments of haploinsufficient genes in patients with craniosynostosis Open
Craniosynostosis (CRS) is characterized by the development of abnormal cranial suture ossification and premature fusion. Despite the identification of several associated genetic disorders, the genetic determinants of CRS remain poorly unde…
View article: De novo missense variants in HDAC3 leading to epigenetic machinery dysfunction are associated with a variable neurodevelopmental disorder
De novo missense variants in HDAC3 leading to epigenetic machinery dysfunction are associated with a variable neurodevelopmental disorder Open
Histone deacetylase 3 (HDAC3) is a crucial epigenetic modulator essential for various developmental and physiological functions. Although its dysfunction is increasingly recognized in abnormal phenotypes, to our knowledge, there have been …
View article: 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 Open
Autosomal-recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is characterized by a triad of cerebellar ataxia, progressive spasticity, and peripheral neuropathy, and a number of pathogenic mutations of SACS have been reported in the …
View article: Broadening the scope of multigene panel analysis for adult epilepsy patients
Broadening the scope of multigene panel analysis for adult epilepsy patients Open
Objective Epilepsy is a suitable target for gene panel sequencing because a considerable portion of epilepsy is now explained by genetic components, especially in syndromic cases. However, previous gene panel studies on epilepsy have mostl…
View article: Characterizing Families of Pediatric Patients with Rare Diseases and Their Diagnostic Odysseys: A Comprehensive Survey Analysis from a Single Tertiary Center in Korea
Characterizing Families of Pediatric Patients with Rare Diseases and Their Diagnostic Odysseys: A Comprehensive Survey Analysis from a Single Tertiary Center in Korea Open
Purpose: Rare diseases necessitate consistent access to specialized health services. In Korea, despite the growing socioeconomic burden, insufficient comprehensive research is available on patients with rare diseases and their families, pa…
View article: Prevalence and Characterization of <i>NOTCH2NLC</i> GGC Repeat Expansions in Koreans
Prevalence and Characterization of <i>NOTCH2NLC</i> GGC Repeat Expansions in Koreans Open
This study presents the population-wide distribution of NOTCH2NLC repeats and the estimated prevalence of NIID in Koreans, providing valuable insights into the association between repeat counts and disease manifestations in diverse neurolo…
View article: Syndromic craniosynostosis caused by a novel missense variant in <i>MAP4K4</i> : Expanding the genotype–phenotype relationship in <scp>RASopathies</scp>
Syndromic craniosynostosis caused by a novel missense variant in <i>MAP4K4</i> : Expanding the genotype–phenotype relationship in <span>RASopathies</span> Open
RASopathies represent a distinct class of neurodevelopmental syndromes caused by germline variants in the Ras/MAPK pathways. Recently, a novel disease‐gene association was implicated in MAPK kinase kinase kinase 4 ( MAP4K4 ), which regulat…
View article: 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 Open
Background: Allan-Herndon-Dudley syndrome (AHDS) is an X-linked disorder caused by a pathogenic variant in the SLC16A2gene. Although most reported variants are found in protein-coding regions or adjacent junctions, structural variations (S…
View article: Late-Onset Ataxia-Telangiectasia Presenting With Dystonia and Tremor
Late-Onset Ataxia-Telangiectasia Presenting With Dystonia and Tremor Open
This report expands the known clinical spectrum of AT, highlighting a familial case of atypical AT. Moreover, it underscores the clinical utility of Nanopore long-read sequencing in phasing variant haplotypes, essential for diagnosing auto…
View article: Synergistic toxicity with copper contributes to NAT2-associated isoniazid toxicity
Synergistic toxicity with copper contributes to NAT2-associated isoniazid toxicity Open
Anti-tuberculosis (AT) medications, including isoniazid (INH), can cause drug-induced liver injury (DILI), but the underlying mechanism remains unclear. In this study, we aimed to identify genetic factors that may increase the susceptibili…
View article: 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 Open
To date, approximately 50 short tandem repeat (STR) disorders have been identified; yet, clinical laboratories rarely conduct STR analysis on exomes. To assess its diagnostic value, we analyzed STRs in 6099 exomes from 2510 families with m…
View article: <i>De novo HDAC3</i>variants leading to epigenetic machinery dysfunction are associated with a neurodevelopmental disorder
<i>De novo HDAC3</i>variants leading to epigenetic machinery dysfunction are associated with a neurodevelopmental disorder Open
Histone deacetylase 3 (HDAC3) is a crucial epigenetic modulator essential for brain development. Although its dysfunction is increasingly recognized in various neurodevelopmental disorders, there have been no reports of human diseases rela…
View article: Clinical applications of next-generation sequencing in the diagnosis of genetic disorders in Korea: a narrative review
Clinical applications of next-generation sequencing in the diagnosis of genetic disorders in Korea: a narrative review Open
Background: Next-generation sequencing (NGS) technologies have revolutionized genetic testing and enabled efficient screening of various genetic conditions in clinical settings. However, the clinical application of genetic test results pre…
View article: Epilepsy phenotype and gene ontology analysis of the 129 genes in a large neurodevelopmental disorders cohort
Epilepsy phenotype and gene ontology analysis of the 129 genes in a large neurodevelopmental disorders cohort Open
Objective Although pediatric epilepsy is an independent disease entity, it is often observed in pediatric neurodevelopmental disorders (NDDs) as a major or minor clinical feature, which might provide diagnostic clues. This study aimed to i…
View article: Expansion of clinico-genetic spectrum of <i>PRDX3</i> disease: a literature review with two additional cases
Expansion of clinico-genetic spectrum of <i>PRDX3</i> disease: a literature review with two additional cases Open
Cho et al. identified two Korean ataxia patients with novel variants, thereby broadening the clinico-genomic findings of PRDX3 disease. The novel variants (Asp171Gly and Arg207Ter) were found in compound heterozygotes with the previously r…
View article: The First Korean Case of VEXAS Syndrome Caused by a <i>UBA1</i> Somatic Variant
The First Korean Case of VEXAS Syndrome Caused by a <i>UBA1</i> Somatic Variant Open
Jihoon G. Yoon, M.D., Ph.D., Seungbok Lee, M.D., Ph.D., Sheehyun Kim, M.D., Man Jin Kim, M.D., Ph.D., Yoon Hwan Chang, M.D., Ph.D., Jin Kyun Park, M.D., Ph.D., Dong-Yeop Shin, M.D., Ph.D., and Jangsup Moon, M.D., Ph.D.. Ann Lab Med 2023;43…
View article: Systematic analysis of inheritance pattern determination in genes that cause rare neurodevelopmental diseases
Systematic analysis of inheritance pattern determination in genes that cause rare neurodevelopmental diseases Open
Despite recent advancements in our understanding of genetic etiology and its molecular and physiological consequences, it is not yet clear what genetic features determine the inheritance pattern of a disease. To address this issue, we cond…
View article: The extended clinical and genetic spectrum of CTNNB1-related neurodevelopmental disorder
The extended clinical and genetic spectrum of CTNNB1-related neurodevelopmental disorder Open
Purpose Loss-of-function mutations of CTNNB1 have been established as the cause of neurodevelopmental disorder with spastic diplegia and visual defects. Although most patients share key phenotypes such as global developmental delay and int…
View article: Molecular Characterization of Biliary Tract Cancer Predicts Chemotherapy and Programmed Death 1/Programmed Death‐Ligand 1 Blockade Responses
Molecular Characterization of Biliary Tract Cancer Predicts Chemotherapy and Programmed Death 1/Programmed Death‐Ligand 1 Blockade Responses Open
Background and Aims Biliary tract cancer (BTC) exhibits diverse molecular characteristics. However, reliable biomarkers that predict therapeutic responses are yet to be discovered. We aimed to identify the molecular features of treatment r…