연세대학교 의학과 학사(1980)
연세대학교 대학원 의학석사(1985)
Karolinska Institute, Sweden 임상유전학 의학박사(1991)

1991-1992 연세대학교 의과대학 소아과 연구강사
1992-1997 연세대학교 의과대학 소아과 조교수
1997-2002 연세대학교 의과대학 소아과 부교수
2001-현재 연세대학교 의과대학 임상유전학과 과장
2003-현재 연세대학교 의과대학 임상유전학과 교수

대한소아과학회 간행위원
대한소아과학회 학술위원
대한생화학,분자생물학회 대의원
한국 유전학회 이사
대한의학유전학회 간행위원
국립보건원 유전질환과 과장
PCR direct sequencing (cycle sequencing 기술) 개발

An unusual case of monozygotic epigastric heteropagus twinning. Pediatr Surgery 31:1457-1460, 1996
Prevalent and novel mutations of the tyrosinase(TYR) gene in Korean patients with tyrosinase-deficient oculocutaneous albinism(OCA1). Mol Cell 7:187-191, 1997
DNA-based prenatal diagnosis of a Korean family with tyrosinase-deficient oculocutaneous albinism(OCA1) Jap J Hum Genet 42:499-505, 1997
Genetic investigation of the porphobilinogen deaminase gene in Swedish acute intermittent porphyria. Hum Genet 100:63-66, 1997
Homozygous deletion of the CDKN2 gene and loss of heterozygosity of 9p in primary hepatocellular carcinoma. Cancer Letters 122:201-207, 1998
Effect of topical Na-hyaluronan on hemidesmosome formation in n-heptanol- induced corneal injury. Ophthalmic Res 30:96-100, 1998
Prevalence of congenital malformations and genetic diseases in Korea. J Hum Genet 44:30-34, 1999
Effect of topically applied 0.1% dexamethasone on endothelial healing and aqueous composition during the repair process of rabbit corneal alkali wounds. Curr Eye Res 18:110-116, 1999
Pyloric atresia with junctional epidermolysis bullosa syndrome: absence of detectable 4 integrin and reduced expression of epidermal linear IgA dermatosis antigen. Int J Dermatol, 38:464-473, 1999
Chromosome abnormalities in a referred population for suspected chromosomal aberrations: A report of 4117 cases. J Kor Med Sci 14:373-376, 2000
Characterization of a novel DNA polymorphism in the human CYP 21 gene and application for DNA diagnosis of congenital adrenal hyperplasia. Clin Endocrinol 53:419-422, 2000
Expression of genes involved in mammalian meiosis during the transition from egg to embryo. Mol Reprod Develop 2001
Characterization of a novel DNA polymorphism in the human CYP21 gene and application for DNA diagnosis of congenital adrenal hyperplasia
CLINICAL ENDOCRINOLOGY 53/0 :419-422,2000
A Korean girl with alpha-aminoadipic and alpha-ketoadipic aciduria accompanied with elevation of 2-hydroxyglutarate and glutarate.
J Inher Metabol Dis 24/0 :509-510,2001
Expression of genes involved in mammalian meiosis during the transition from egg to embryo
MOLECULAR REPRODUCTION AND DEVELOPMENT 0/0 :1-15,2001
ON THE CONSISTENT IDENTIFICATION PROCEDURES OF AU-TOREGRESSIVE MOVING-AVERAGE PROCESS
YONSEI BUSINESS REVIEW 24/1 :191-210,2002
Identification of MARCKS, FLJ11383 and TAF1B as putative novel target genes in colorectal carcinomas with mocrosatellite instability
ONCOGENE 21/21 :5081-5087,2002
In vivo differentiation of mouse embryonic stem cells into hepatocytes
CELL TRANSPLANTATION / :-,2002
선천성 근긴장성 이영양증 1례
대한신생아학회지(Journal of Korean Society Neonatology) 9/2 :204-210,2002
신생아기에 진단된 미토콘드리아 호흡 사슬 결함 1례
대한주산의학회지(Korean Journal Of Perinatology) 14/1 :50-55,2003
신생아 지속성 폐동맥 고혈압증을 동반한 태아 알코올 증후군 1례
KOREAN JOURNAL OF PEDIATRICS 47/11 :1220-1224,2004
중증근무력증 환자의 CTLA-4 유전자 다형성
대한신경과학회지(JournalOfTheKoreanNeurologicalAssociation) 22/5 :504-507,2004
Pyloric atresia-junctional epidermolysis bullosa syndrome showing novel 59insC/Q425P mutations in integrin β4 gene (ITGB4)
EXPERIMENTAL DERMATOLOGY 13/ :61-64,2004
Recombinant adeno-associated virus mediated gene transfer in a mouse model for homocystinuria
EXPERIMENTAL AND MOLECULAR MEDICINE 38/6 :652-661,2006
PADB: Published association database
BMC BIOINFORMATICS 8/ :348-,2007
Temporal bone CT findings in Cornelia de Lange syndrome
American Journal Of Neuroradiology 29/ :569-573,2008
한국인 von Hippel-Lindau 병 환자에서 신세포암의 임상적 특성
Korean Journal of Urology 49/10 :863-867,2008
Newly observed thalamic involvement and mutations of the HEXA gene in a Korean patient with juvenile GM2 gangliosidosis
Metabolic Brain Disease 23/3 :235-242,2008
De novo interstitial direct duplication 8 (p21.3p23.1) with Pierre Robin sequence
Korean Journal of Pediatrics 52/5 :603-606,2009
MedRefSNP: A database of medically investigated SNPs
Human Mutation 30/3 :460-466,2009
Clinical Characteristics of Renal Cell Carcinoma in Korean Patients with von Hippel-Lindau Disease Compared to Sporadic Bilateral or Multifocal Renal Cell Carcinoma
Journal Of Korean Medical Science 24/6 :1145-1149,2009
Behavioral improvement after transplantation of neural precursors derived from embryonic stem cells into the globally ischemic brain of adolescent rats
Brain & Development 32/8 :658-668,2010
신생아기에 진단된 미토콘드리아 질환 3례
Journal Of The Korean Society Of Neonatology(대한신생아학회지) 17/2 :254-261,2010
Survival analysis of spinal muscular atrophy type I
Korean Journal of Pediatrics 53/11 :965-970,2010
X-linked Myotubular Myopathy in a Family with Two Infant Siblings: A Case with MTM1 Mutation
YONSEI MEDICAL JOURNAL 52/3 :547-550,2011
Acute treatment of hyperammonemia by continuous renal replacement therapy in a newborn patient with ornithine transcarbamylase deficiency
Korean Journal of Pediatrics 54/10 :425-428,2011
The first case of familial mediterranean fever associated with renal amyloidosis in Korea
YONSEI MEDICAL JOURNAL 53/2 :454-458,2012
Genetic and Epileptic Features in Rett Syndrome
YONSEI MEDICAL JOURNAL 53/3 :495-500,2012
A modified Atkin's diet for an infant with pyruvate dehydrogenase complex deficiency confirmed by PDHA1 gene mutation
NEUROLOGY ASIA 19/3 :327-329,2014
Germline mutation of Glu70Lys is highly frequent in Korean patients with von Hippel-Lindau (VHL) disease
JOURNAL OF HUMAN GENETICS 59/9 :488-493,2014
Novel mutations of KIT gene in two Korean patients: Variegated shades of phenotypes in tyrosine kinase 1 domain
JOURNAL OF DERMATOLOGICAL SCIENCE 76/1 :74-76,2014
Lipidomic profiling of plasma and urine from patients with Gaucher disease during enzyme replacement therapy by nanoflow liquid chromatography-tandem mass spectrometry
JOURNAL OF CHROMATOGRAPHY A 1381/0 :132-139,2015
Complete form of pachydermoperiostosis with SLCO2A1 gene mutation in a Korean family
JOURNAL OF DERMATOLOGY 42/6 :655-657,2015
천식 치료 중 우연히 발견된 Birt-Hogg-Dube 증후군 1예
Allergy Asthma & Respiratory Disease 3/3 :232-235,2015
Unravelling the mechanism of action of enzyme replacement therapy in Fabry disease
JOURNAL OF HUMAN GENETICS 61/2 :143-149,2016
Mucocutaneous Telangiectasia as a Diagnostic Clue of Hereditary Hemorrhagic Telangiectasia: An Activin Receptor-Like Kinase-1 Mutation in a Korean Patient
ANNALS OF DERMATOLOGY 28/2 :264-266,2016
Variations in plasma and urinary lipids in response to enzyme replacement therapy for Fabry disease patients by nanoflow UPLC-ESI-MS/MS
ANALYTICAL AND BIOANALYTICAL CHEMISTRY 408/9 :2265-2274,2016
Identification of disease comorbidity through hidden molecular mechanisms
SCIENTIFIC REPORTS 6/39433 :1-8,2016
Diagnosis of Severe Protein C Deficiency Confirmed by Presence of Rare PROC Gene Mutation
Neonatal medicine 23/4 :233-237,2016
Mucocutaneous Telangiectasia as a Diagnostic Clue of Hereditary Hemorrhagic Telangiectasia: An Activin Receptor-Like Kinase-1 Mutation in a Korean Patient
ANNALS OF DERMATOLOGY 28/2 :264-266,2016
Congenital Orbital Fibrosis: Molecular Genetic Analysis by Whole-Exome and Mitochondrial Genome Sequencing
YONSEI MEDICAL JOURNAL 58/5 :1,078-1,080,2017
A Patient Diagnosed with Spinocerebellar Ataxia Type 5 associated with SPTBN2: Case Repor
Journal of the Korean Child Neurology Society(대한소아신경학회지) 25/3 :200-203,2017
Clinical application of next-generation sequencing for the diagnosis of segmental neurofibromatosis
JOURNAL OF DERMATOLOGICAL SCIENCE 88/3 :370-372,2017
Prevalence of Rare Genetic Variations and Their Implications in NGS-data Interpretation
SCIENTIFIC REPORTS 7/ :1038-1-1038-10,2017
Alpers-Huttenlocher Syndrome First Presented with Hepatic Failure: Can Liver Transplantation Be Considered as Treatment Option?
Pediatric Gastroenterology, Hepatology & Nutrition 20/4 :259-262,2017
A Novel Heterozygous ANO3 Mutation with Basal Ganglia Dysfunction in a Patient with Adult-Onset Isolated Segmental Dystonia
JOURNAL OF CLINICAL NEUROLOGY 14/4 :596-597,2018
Oral Pyridostigmine-Responsive Visceral Myopathy with ACTG2 Mutations: A case series
JOURNAL OF PEDIATRIC GASTROENTEROLOGY AND NUTRITION 68/1 :e16-e17,2019
Genitopatellar syndrome secondary to de novo KAT6B mutation: The first genetically confirmed case in South Korea
YONSEI MEDICAL JOURNAL 60/4 :395-398,2019
Fructose-1,6-bisphosphatase deficiency presented with complex febrile convulsion
NEUROENDOCRINOLOGY LETTERS 39/8 :533-536,2019
Implementation of a Targeted Next-Generation Sequencing Panel for Constitutional Newborn Screening in High-Risk Neonates
YONSEI MEDICAL JOURNAL 60/11 :1,061-1,066,2019