전문의
GC Labs의 전문의를 소개합니다.
분자진단검사
울산대학교 대학원 의학석사, 의학박사 (2007, 2016)
울산의대 생리학교실 연구원 (2005-2008)
울산대학교 의과대학 의학사 (2005)
GC녹십자의료재단 분자유전 전문의 (2020~)
GC지놈 유전체의학본부 전문의 (2020~)
서울아산병원 전공의, 전임의 (2012~2020)
[대표논문, 수상경력]
- Clinical Application of Chromosomal Microarray for Hematologic
Malignancies. Journal of Interdisciplinary Genomics. (2024)
- Clinical Application of Chromosomal Microarray for Germline
Disorders. Journal of Interdisciplinary Genomics. (2023)
대한진단유전학회 우수연구자상 (2023)
대한진단검사의학회 우수연구자상 (2018, 2019)
대한병원감염관리학회 우수연구자상 (2014)
기초의학학술상(생리학) (2008)
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False positive results of MLPA for NF1 gene due to sequence variants
2026대한진단유전학회 제21차 학술대회설창안
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Novel APC promoter 1B variant associated with gastric adenocarcinoma and proximal polyposis of the stomach: a case report
2026Frontiers in Genetics설창안
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Bone Marrow Failure as an Underrecognized Feature of KAT6A Syndrome
2025Pediatric Blood & Cancer설창안
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Real-world evaluation of gnomAD variant co-occurrence information for haplotype phasing in autosomal recessive disorders
2025Human Genomics설창안
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Genetic epidemiology of moyamoya disease and CADASIL in over 120,000 healthy Korean individuals: Insights into cerebrovascular disorders
2025PLOS One설창안
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Copy-number variants of targeted next-generation sequencing panels
2025ASHG설창안
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The distribution of genetic causes in Korean MODY patients
2025ASHG설창안
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Regions of Homozygosity Identified with a Chromosomal Microarray in a Korean Population: Distribution, Frequency, and Clinical Interpretation
2025Annals of Laboratory Medicine설창안
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Novel causative RYR2 indel variant with exon and intron involvement inducing exon 13 skipping in a family exhibiting catecholaminergic polymorphic ventricular tachycardia
2025Frontiers in Genetics설창안
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Recurrent Hemorrhagic Stroke and Microcephaly in a Newborn with Aicardi-Goutières Syndrome Caused by a Homozygous Intronic RNASEH2B Variant
2025 Annals of Clinical & Laboratory Science설창안
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Genetic epidemiology of epithelial-stromal TGFBI dystrophies in a large Korean population
2025Scientific Reports설창안
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Genetic counseling in prenatal chromosome test and CMA
2025대한진단유전학회 제20차 학술대회설창안
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유전질환 NGS 검사에서의 CNV 분석
20242024 제7회 유전의학융합회 정기 학술대회설창안
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Clinical utility of CytoScan Optima for prenatal diagnosis
20242024 제7회 유전의학융합회 정기 학술대회설창안
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Copy number variants of targeted next-generation sequencing panels
20242024 제7회 유전의학융합회 정기 학술대회설창안
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Clinical Application of Chromosomal Microarray for Hematologic Malignancies
2024Journal of Interdisciplinary Genomics설창안
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Copy number variants of targeted next-generation sequencing panels
2024KSMGG & EAUHGS설창안
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Genetic Diagnosis Utilizing xGen Exome and mtDNA Research Solution
2024대한진단유전학회 2024년 제19차 학술대회설창안
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LSD에 대한 분자유전학적 진단
2024대한진단유전학회 2024년 제19차 학술대회설창안
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Genetic evaluation using next-generation sequencing of children with short stature: a single tertiary-center experience
2024Annals of Pediatric Endocrinology & Metabolism설창안
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Clinical application of chromosomal microarray for germline disorders
2023Journal of Interdisciplinary Genomics설창안
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CytoScan Optima의 산전진단에 대한 임상적 유용성
2023대한진단유전학회 학술대회설창안
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Practical Guidelines for Chromosomal Microarray Analysis for Constitutional Abnormalities: Part II, Reporting and Interpretation
2023Laboratory Medicine Online설창안
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Practical Guidelines for Chromosomal Microarray Analysis for Constitutional Abnormalities: Part I, General and Prenatal
2023Laboratory Medicine Online설창안
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혈액암에서의 CMA 적용
2023대한진단유전학회 학술대회설창안
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Diagnostic Utility of CytoScan Xon Array
2023대한진단유전학회 학술대회설창안
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Clinical application of prenatal chromosomal microarray
2022Journal of Genetic Medicine설창안
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산전 이상의 염색체마이크로어레이의 검사지침
2022대한진단유전학회 심포지엄설창안
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Microarray as a prenatal test
2020대한진단유전학회설창안
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The first familial case of inherited intellectual developmental disorder with dysmorphic facies and behavioral abnormalities (IDDFBA) with a novel FBXO11 variant
2020Am J Med Genet A설창안
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First Case of Double T-Cell Receptor Alpha/Delta Rearrangements of t(11;14) and inv(14) and Subsequent JAK2 Rearrangement in a Patient With T-cell Acute Lymphoblastic Leukemia
2020Ann Lab Med설창안
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POEMS Syndrome: Bone Marrow, Laboratory, and Clinical Findings in 24 Korean Patients
2019Ann Lab Med설창안