Disease gene identification
SNP
Whole genome Sequencing
Linkage analysis
Cancer Genomics
Systems Genetics
Journal Articles
(2023)
CRYAB stop-loss variant causes rare syndromic dilated cardiomyopathy with congenital cataract expanding the phenotypic and mutational spectrum of alpha-B crystallinopathy.
JOURNAL OF HUMAN GENETICS.
-,
-
(2023)
Genetic Diagnosis of Children With Neurodevelopmental Disorders Using Whole Genome Sequencing.
PEDIATRIC NEUROLOGY.
149,
(2023)
Tandem High-dose Chemotherapy Increases the Risk of Secondary Malignant Neoplasm in Pediatric Solid Tumors.
CANCER RESEARCH AND TREATMENT.
-,
-
(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)
Experience of reassessing FBN1 variants of uncertain significance by gene-specific guidelines.
JOURNAL OF MEDICAL GENETICS.
61,
1
(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,
(2022)
Variation spectrum of MECP2 in Korean patients with Rett and Rett-like syndrome: a literature review and reevaluation of variants based on the ClinGen guideline.
JOURNAL OF HUMAN GENETICS.
67,
10
(2022)
Pathogenic Variants Spectrum and Allele Frequency of the CFTR Gene in Asians.
ALLERGY ASTHMA & IMMUNOLOGY RESEARCH.
14,
5
(2022)
Discovery of BRCA1/BRCA2 founder variants by haplotype analysis.
CANCER GENETICS.
266,
(2022)
Clinicopathological Characterization of Double Heterozygosity for BRCA1 and BRCA2 Variants in Korean Breast Cancer Patients.
CANCER RESEARCH AND TREATMENT.
54,
3
(2022)
Clinicopathological Characterization of Double Heterozygosity for BRCA1 and BRCA2 Variants in Korean Breast Cancer Patients.
CANCER RESEARCH AND TREATMENT.
(2022)
Performance Evaluation of the PowerChek SARS-CoV-2, Influenza A & B Multiplex Real-Time PCR Kit in Comparison with the BioFire Respiratory Panel.
ANNALS OF LABORATORY MEDICINE.
42,
4
(2022)
Genetic Counseling and Long-Term Surveillance Using a Multidisciplinary Approach in von Hippel-Lindau Disease.
ANNALS OF LABORATORY MEDICINE.
42,
3
(2022)
Functional and Structural Changes in the Membrane-Bound O-Acyltransferase Family Member 7 (MBOAT7) Protein: The Pathomechanism of a Novel MBOAT7 Variant in Patients With Intellectual Disability.
FRONTIERS IN NEUROLOGY.
13,
13
(2022)
A Case of Next-generation Sequencing Gene Testing : Points to be Considered in Testing and Reporting.
ANNALS OF LABORATORY MEDICINE.
42,
2
(2022)
Clinical practice guidelines for pre-analytical procedures of plasma epidermal growth factor receptor variant testing.
ANNALS OF LABORATORY MEDICINE.
42,
2
(2022)
Detection methods and status of CAT interruption of ATXN1 in Korean patients with spinocerebellar ataxia type 1.
ANNALS OF LABORATORY MEDICINE.
42,
2
Publications
(2001)
다인자 질환의 유전 Genetics of Multifactorial Diseases.
고려의학.
Solo
(2001)
유전성 대사질환 Inherited Metabolic Disorders.
고려의학.
Solo
(1998)
임상 심장학.
고려의학.
Co-author
Patent/Intellectual Property
CMTX5 질환과 관련된 PRPS1 유전자의 돌연변이 및 이것의 용도.
10-2007-0141005.
20100604.
KOREA, REPUBLIC OF
Conference Paper
(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.
KOREA, REPUBLIC OF
(2020)
APC germline mutations in suspected Familial Adenomatous Polyposis: A single center analysis in Korean.
대한진단검사의학회 추계학술대회.
KOREA, REPUBLIC OF
(2020)
Population Genetic Study of Recurrent BRCA1/BRCA2 Variants in Korean.
대한진단검사의학회 추계학술대회.
KOREA, REPUBLIC OF
(2020)
Haplotype Analysis of BRCA1/BRCA2 Variants in Korean Patients with Breast Cancer.
International Genetic Epidemiology Society.
UNITED STATES
(2019)
Transcriptomics as a new diagnostic tool.
LMCE 2019.
KOREA, REPUBLIC OF
(2019)
디지털PEC의 임상적용.
2019 진단검사의학회 춘계학회.
KOREA, REPUBLIC OF
(2019)
Performance evaluation of Iron Torrent Oncemine™ Myeloid Research Assay.
ICKSH2019.
KOREA, REPUBLIC OF
(2012)
Multiplex Ligation-Dependent Probe Amplification Assay for congential Adrenal Hyperplasia.
Asian Congress for inherited metabolic Disease.
KOREA, REPUBLIC OF
(2012)
Three Korean Patients with Maple Syrup Urine Disease: Four Novel Mutations in the Bckdha Gene.
2nd Asian congress for inherited metaboliv Diseases.
KOREA, REPUBLIC OF
(2008)
Mutation identification in Korean patien ts with hemophilia A who are negative fo r Inv(22).
2008 East-Asia Hemophilia Forum.
KOREA, REPUBLIC OF
(2008)
유방암의 분자유전학적 표지자.
대한진단검사의학회.
KOREA, REPUBLIC OF
(2008)
CTG Repeat Distribution and haplotyp Analysis fo the DM1 locus in the korean Population.
대한진단검사의학회.
KOREA, REPUBLIC OF
(2008)
Evaluation of the Automated Coagulation Analyzer ACL-TOP.
대한진단검사의학회.
KOREA, REPUBLIC OF
(2008)
Mutation Analysis of GJB2 and SLC26A Genes i n Korean Cochlar Implant Recipients.
대한진단검사의학회.
KOREA, REPUBLIC OF
(2008)
갑상선 미세침흡인검체를 이용한 BRAF 돌연변이 검사의 임상적 유용성 평가.
대한진단검사의학회.
KOREA, REPUBLIC OF
(2008)
대사질환검사 신빙도조사 결과보고 (2007).
대한임상검사정도관리협회.
KOREA, REPUBLIC OF
(2008)
분자유전 외부정도관리: 10년간의 경험 분석.
대한진단검사의학회.
KOREA, REPUBLIC OF
(2008)
진단유전학검사 신빙도조사 결과보고 (2007).
대한임상검사정도관리협회.
KOREA, REPUBLIC OF
(2008)
한국인 ENCODE Region SNP Date 의 인구유전학적 분석.
대한진단검사의학회.
KOREA, REPUBLIC OF
(2008)
한국인 유방암 환자의 BRCA1 및 BRCA2유전자의 돌연변이 양상과 가족력과의 연관성.
대한진단검사의학회.
KOREA, REPUBLIC OF
Activities
(2010)
CEBPA Mutations in korean Patients with Acute Myeloid Leukemia with a Normal Karyotype.
KOREA, REPUBLIC OF,
(2010)
Diagnostic Usefulness of Serum Cathepsin D, Tissue Inhibitors of Metalloproteinases and Insulin-Like Growth Factor Binding Proteins for Pancreatic Ductal Adenocarcinoma.
KOREA, REPUBLIC OF,
(2010)
Mutational Analysis of the SOD1 Gene in Korean Patients with Amyotrophic Lateral Sclerosis..
KOREA, REPUBLIC OF,
(2010)
Partial Tandem Duplication Mutation of MLL in Korean Adult Patients with AML with a Normal Karyotype.
KOREA, REPUBLIC OF,
