Disease gene identification
SNP
Whole genome Sequencing
Linkage analysis
Cancer Genomics
Systems Genetics
학력
(Ph.D.) 서울대학교
약력/경력
미국 신시내티 어린이병원 인간유전학과
삼성생명과학연구소 유전체연구센터 센터장
삼성서울병원 진단검사학과 과장
보건복지부 지정 희귀대사질환 유전체 센터 센터장
Alzheimier’s Disease Genetic Consortium 한국 대표
학술지 논문
(2023)
Genetic Diagnosis of Children With Neurodevelopmental Disorders Using Whole Genome Sequencing.
PEDIATRIC NEUROLOGY.
149,
(2023)
Case report: Suspecting guanine nucleotide-binding protein beta 1 mutation in dyskinetic cerebral palsy is important.
FRONTIERS IN PEDIATRICS.
11,
(2023)
Reclassification of variants of tumor suppressor genes based on Sanger RNA sequencing without NMD inhibition.
FRONTIERS IN GENETICS.
14,
(2023)
Identification of two novel COL3A1 variants in patients with vascular Ehlers-Danlos syndrome.
MOLECULAR GENETICS & GENOMIC MEDICINE.
11,
9
(2023)
Whole-genome sequencing in clinically diagnosed Charcot-Marie-Tooth disease undiagnosed by whole-exome sequencing.
BRAIN COMMUNICATIONS.
5,
3
(2023)
Enrichment of titin-truncating variants in exon 327 in dilated cardiomyopathy and its relevance to reduced nonsense-mediated mRNA decay efficiency.
FRONTIERS IN GENETICS.
13,
(2021)
The First Korean Case of SLC12A3 Aberrant Skipping of Two Exons Detected by RNA Splicing Analysis.
Case Reports in Nephrology and Dialysis.
11,
2
(2021)
Analytical validation of a pan-cancer panel for cell-free assay for the detection of EGFR mutations.
DIAGNOSTICS.
11,
6
(2021)
Novel Alzheimer's disease risk variants identified based on whole-genome sequencing of APOE epsilon 4 carriers.
TRANSLATIONAL PSYCHIATRY.
11,
1
(2021)
A population-based analysis of brca1/2 genes and associated breast and ovarian cancer risk in Korean patients: A multicenter cohort study.
CANCERS.
13,
9
(2021)
Whole-genome sequencing reveals KRTAP1-1 as a novel genetic variant associated with antidepressant treatment outcomes.
SCIENTIFIC REPORTS.
11,
1
(2021)
Local laboratory testing of germline brca mutations vs. Myriad: A single-institution experience in Korea.
DIAGNOSTICS.
11,
2
(2020)
Distribution and clinical impact of apolipoprotein E4 in subjective memory impairment and early mild cognitive impairment.
SCIENTIFIC REPORTS.
10,
1
(2020)
Genotype-Related Clinical Characteristics and Myocardial Fibrosis and Their Association with Prognosis in Hypertrophic Cardiomyopathy.
JOURNAL OF CLINICAL MEDICINE.
9,
6
(2020)
Quantitative and Qualitative QC of Next-Generation Sequencing for Detecting Somatic Variants: An Example of Detecting Clonal Hematopoiesis of Indeterminate Potential.
CLINICAL CHEMISTRY.
66,
6
(2020)
CDH1 mutations in gastric cancers are not associated with family history.
PATHOLOGY RESEARCH AND PRACTICE.
216,
5
(2020)
Genetic Counseling Status and Perspectives Based on a 2018 Professional Survey in Korea.
ANNALS OF LABORATORY MEDICINE.
40,
3
(2020)
The First Korean Case of Gorlin–Goltz Syndrome Caused by a PTCH2 Pathogenic Variant Identified via Whole Exome Sequencing.
Laboratory Medicine Online.
10,
2
(2019)
HMGCLL1 is a predictive biomarker for deep molecular response to imatinib therapy in chronic myeloid leukemia.
LEUKEMIA.
33,
6
(2019)
HMGCLL1 is a predictive biomarker for deep molecular response to imatinib therapy in chronic myeloid leukemia.
LEUKEMIA.
33,
6
단행본
(2001)
다인자 질환의 유전 Genetics of Multifactorial Diseases.
고려의학.
단독
(2001)
유전성 대사질환 Inherited Metabolic Disorders.
고려의학.
단독
(1998)
임상 심장학.
고려의학.
공동
특허/프로그램
CMTX5 질환과 관련된 PRPS1 유전자의 돌연변이 및 이것의 용도.
10-2007-0141005.
20100604.
대한민국
학술회의논문
(2020)
Importance of family segregation in the American College of Medical Genetics and Genomics and Association of Molecular Pathology guidelines: Case of a Korean family with autosomal dominant polycystic disease.
대한의학유전학회 제 60차 추계학술대회.
대한민국
(2020)
APC germline mutations in suspected Familial Adenomatous Polyposis: A single center analysis in Korean.
대한진단검사의학회 추계학술대회.
대한민국
(2020)
Population Genetic Study of Recurrent BRCA1/BRCA2 Variants in Korean.
대한진단검사의학회 추계학술대회.
대한민국
(2020)
Haplotype Analysis of BRCA1/BRCA2 Variants in Korean Patients with Breast Cancer.
International Genetic Epidemiology Society.
미국
(2019)
Transcriptomics as a new diagnostic tool.
LMCE 2019.
대한민국
(2019)
디지털PEC의 임상적용.
2019 진단검사의학회 춘계학회.
대한민국
(2019)
Performance evaluation of Iron Torrent Oncemine™ Myeloid Research Assay.
ICKSH2019.
대한민국
(2012)
Multiplex Ligation-Dependent Probe Amplification Assay for congential Adrenal Hyperplasia.
Asian Congress for inherited metabolic Disease.
대한민국
(2012)
Three Korean Patients with Maple Syrup Urine Disease: Four Novel Mutations in the Bckdha Gene.
2nd Asian congress for inherited metaboliv Diseases.
대한민국
(2008)
Mutation identification in Korean patien ts with hemophilia A who are negative fo r Inv(22).
2008 East-Asia Hemophilia Forum.
대한민국
(2008)
유방암의 분자유전학적 표지자.
대한진단검사의학회.
대한민국
(2008)
CTG Repeat Distribution and haplotyp Analysis fo the DM1 locus in the korean Population.
대한진단검사의학회.
대한민국
(2008)
Evaluation of the Automated Coagulation Analyzer ACL-TOP.
대한진단검사의학회.
대한민국
(2008)
Mutation Analysis of GJB2 and SLC26A Genes i n Korean Cochlar Implant Recipients.
대한진단검사의학회.
대한민국
(2008)
갑상선 미세침흡인검체를 이용한 BRAF 돌연변이 검사의 임상적 유용성 평가.
대한진단검사의학회.
대한민국
(2008)
대사질환검사 신빙도조사 결과보고 (2007).
대한임상검사정도관리협회.
대한민국
(2008)
분자유전 외부정도관리: 10년간의 경험 분석.
대한진단검사의학회.
대한민국
(2008)
진단유전학검사 신빙도조사 결과보고 (2007).
대한임상검사정도관리협회.
대한민국
(2008)
한국인 ENCODE Region SNP Date 의 인구유전학적 분석.
대한진단검사의학회.
대한민국
(2008)
한국인 유방암 환자의 BRCA1 및 BRCA2유전자의 돌연변이 양상과 가족력과의 연관성.
대한진단검사의학회.
대한민국
전시/발표회
(2010)
CEBPA Mutations in korean Patients with Acute Myeloid Leukemia with a Normal Karyotype.
대한민국,
(2010)
Diagnostic Usefulness of Serum Cathepsin D, Tissue Inhibitors of Metalloproteinases and Insulin-Like Growth Factor Binding Proteins for Pancreatic Ductal Adenocarcinoma.
대한민국,
(2010)
Mutational Analysis of the SOD1 Gene in Korean Patients with Amyotrophic Lateral Sclerosis..
대한민국,
(2010)
Partial Tandem Duplication Mutation of MLL in Korean Adult Patients with AML with a Normal Karyotype.
대한민국,
