Jihoon G. Yoon
연세대학교 의학전문대학원 · 의학
Jihoon G. Yoon 교수의 연구실은 신경유전질환과 약물유전체학을 중심으로 한 정밀의료 연구를 수행하고 있습니다. 특히 짧은 반복서열(STR) 변동이 관련된 퇴행성 뇌질환의 진단적 가치를 규명하고, 약물 유전적 소인을 기반으로 한 개인 맞춤 치료제 선별 전략을 개발하고 있습니다. 또한, 약물유해반응과 혈전성 질환의 진단을 위한 머신러닝 기반 생물표지자 최적화 연구도 진행 중입니다.
표시된 성과는 수집된 데이터 기준으로 산출되며, 일부 차이가 있을 수 있습니다.
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 mostly suspected neurogenetic disorders. We employed ExpansionHunter and REViewer to detect pathogenic repeat expansions, confirming them using orthogonal methods. Genotype-phenotype correlations led to the diagnosis of thirteen individuals in seven previously u
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;43:217-20. https://doi.org/10.3343/alm.2023.43.2.217
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 susceptibility of individuals to AT-DILI and to examine genetic interactions that may lead to isoniazid (INH)-induced hepatotoxicity. We performed a targeted sequencing analysis of 380 pharmacogenes in a discovery cohort of 112 patients (35 AT-DILI patients and 77 controls
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 no established reports of human diseases directly linked to HDAC3 dysfunction. Using trio exome sequencing and extensive phenotypic analysis, we correlated heterozygous de novo variants in HDAC3 with a neurodevelopmental disorder having variable clinical presen
Dear Editor
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 autosomal recessive disorders, especially beneficial for cases without parental samples.
This report, to our knowledge, is the first to describe a non-coding deletion associated with AHDS, demonstrating the potential utility of long-read sequencing for undiagnosed patients. Although interpreting variants in non-coding regions remains challenging, our study highlights this region as a high priority for future investigation and functional studies.
The data that support the findings of this study are available on request from the corresponding author. The data are not publicly available due to privacy or ethical restrictions.
This study sheds light on the complex genetic architecture of microcephaly, emphasizing the impact of rare coding variants on brain development and delineating distinct clinical and molecular profiles underlying PM and SM.
<i>Fusobacterium nucleatum</i> (<i>Fn</i>) 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 <i>Fusobacterium</i> genomes to design primers targeting conserved regions of the <i>fadA</i> adhesin gene and developed a duplex quantitative real-time PCR (qPCR) assay for simultaneous detection of <i>fadA</i> and a human <i>PGT</i> as an internal control. Analytic
