高廷旻
Department
遗传
Specialty
网上预约
inherited metabolic disease
,
Congenital malformation
,
Genetic counseling
,
Prenatal genetic diagnosis
Rare genetic disorder
,
Multiple malformation syndrome
,
Galactosemia
,
Skeletal system dysplasia
,
Genetic counseling
,
inherited metabolic disease
,
Chromosomal aberration
Education / Career
| Article | Systematic analysis of Mendelian disease-associated gene variants reveals new classes of cancer-predisposing genes | ||
|---|---|---|---|
| Announcements | GENOME MEDICINE | Date of publication | 2023-2 |
| Co-researcher | |||
| Pubmed URL | https://www.ncbi.nlm.nih.gov/pubmed/38143269/ | ||
| Article | Recurrent Vascularizing Keratitis in Infants With Hereditary Mucoepithelial Dysplasia Related to SREBF1 Mutation | ||
|---|---|---|---|
| Announcements | CORNEA | Date of publication | 2023-2 |
| Co-researcher | |||
| Pubmed URL | https://www.ncbi.nlm.nih.gov/pubmed/37699567/ | ||
| Article | Variant Allele Frequency of Pseudogene-Related Variants in Short-read Next-Generation Sequencing Data May Mislead Genetic Diagnosis: A Case of Shwachman-Diamond Syndrome | ||
|---|---|---|---|
| Announcements | ANNALS OF LABORATORY MEDICINE | Date of publication | 2023-1 |
| Co-researcher | |||
| Pubmed URL | https://www.ncbi.nlm.nih.gov/pubmed/37387500/ | ||
| Article | Cardiovascular Characteristics and Progressions of Hypertrophic Cardiomyopathy and Pulmonary Stenosis in RASopathy Syndrome in the Genomic Era | ||
|---|---|---|---|
| Announcements | JOURNAL OF PEDIATRICS | Date of publication | 2023-1 |
| Co-researcher | |||
| Pubmed URL | https://www.ncbi.nlm.nih.gov/pubmed/36806754/ | ||
| Article | The Korean Genetic Diagnosis Program for Rare Disease Phase II: outcomes of a 6-year national project | ||
|---|---|---|---|
| Announcements | EUROPEAN JOURNAL OF HUMAN GENETICS | Date of publication | 2023-0 |
| Co-researcher | |||
| Pubmed URL | https://www.ncbi.nlm.nih.gov/pubmed/37414863/ | ||
| Article | Growth patterns of young achondroplasia patients in Korea and predictability of neurosurgical procedures | ||
|---|---|---|---|
| Announcements | ORPHANET JOURNAL OF RARE DISEASES | Date of publication | 2023-0 |
| Co-researcher | |||
| Pubmed URL | https://www.ncbi.nlm.nih.gov/pubmed/37798741/ | ||
| Article | Uncovering the phenotypic consequences of multi-locus imprinting disturbances using genome-wide methylation analysis in genomic imprinting disorders | ||
|---|---|---|---|
| Announcements | PLOS ONE | Date of publication | 2023-8 |
| Co-researcher | |||
| Pubmed URL | https://www.ncbi.nlm.nih.gov/pubmed/37594968/ | ||
| Article | Rapid Targeted Sequencing Using Dried Blood Spot Samples for Patients With Suspected Actionable Genetic Diseases | ||
|---|---|---|---|
| Announcements | ANNALS OF LABORATORY MEDICINE | Date of publication | 2023-5 |
| Co-researcher | |||
| Pubmed URL | https://www.ncbi.nlm.nih.gov/pubmed/36544340/ | ||
| Article | A Case Report of Rubinstein-Taybi Syndrome Presenting with Extensive Keloid Formation and Review of Literature | ||
|---|---|---|---|
| Announcements | ANNALS OF DERMATOLOGY | Date of publication | 2023-5 |
| Co-researcher | |||
| Pubmed URL | https://www.ncbi.nlm.nih.gov/pubmed/37853858/ | ||
| Article | Clinical Manifestations and Outcomes of 20 Korean Hypochondroplasia Patients with the FGFR3 N540K variant | ||
|---|---|---|---|
| Announcements | EXPERIMENTAL AND CLINICAL ENDOCRINOLOGY & DIABETES | Date of publication | 2023-3 |
| Co-researcher | |||
| Pubmed URL | https://www.ncbi.nlm.nih.gov/pubmed/36442838/ | ||
| Article | Clinical and molecular delineation of mandibulofacial dysostosis with microcephaly in six Korean patients: When to consider EFTUD2 analysis? | ||
|---|---|---|---|
| Announcements | EUROPEAN JOURNAL OF MEDICAL GENETICS | Date of publication | 2022-2 |
| Co-researcher | |||
| Pubmed URL | https://www.ncbi.nlm.nih.gov/pubmed/35395430/ | ||
| Article | Pachyonychia Congenita with a Novel Variant in the KRT16 Gene, c.348_379delinsAA | ||
|---|---|---|---|
| Announcements | ANNALS OF DERMATOLOGY | Date of publication | 2022-2 |
| Co-researcher | |||
| Pubmed URL | https://www.ncbi.nlm.nih.gov/pubmed/36478435/ | ||
| Article | Clinical characteristics and effects of enzyme replacement therapy with elosulfase alfa in Korean patients with mucopolysaccharidosis type IVA | ||
|---|---|---|---|
| Announcements | Molecular Genetics and Metabolism Reports | Date of publication | 2022-2 |
| Co-researcher | |||
| Pubmed URL | https://www.ncbi.nlm.nih.gov/pubmed/35782601/ | ||
| Article | Deciphering Epigenetic Backgrounds in a Korean Cohort with Beckwith-Wiedemann Syndrome | ||
|---|---|---|---|
| Announcements | ANNALS OF LABORATORY MEDICINE | Date of publication | 2022-1 |
| Co-researcher | |||
| Pubmed URL | https://www.ncbi.nlm.nih.gov/pubmed/35765875/ | ||
| Article | The Korean undiagnosed diseases program phase I: expansion of the nationwide network and the development of long-term infrastructure | ||
|---|---|---|---|
| Announcements | ORPHANET JOURNAL OF RARE DISEASES | Date of publication | 2022-0 |
| Co-researcher | |||
| Pubmed URL | https://www.ncbi.nlm.nih.gov/pubmed/36209187/ | ||
| Article | Case report: Focal segmental glomerulosclerosis in a pediatric atypical progeroid syndrome | ||
|---|---|---|---|
| Announcements | FRONTIERS IN PEDIATRICS | Date of publication | 2022-0 |
| Co-researcher | |||
| Pubmed URL | https://www.ncbi.nlm.nih.gov/pubmed/36389384/ | ||
| Article | Multicenter Surveillance of Cystic Fibrosis in Korean Children | ||
|---|---|---|---|
| Announcements | ALLERGY ASTHMA & IMMUNOLOGY RESEARCH | Date of publication | 2022-9 |
| Co-researcher | |||
| Pubmed URL | https://www.ncbi.nlm.nih.gov/pubmed/36174992/ | ||
| Article | Systematic analysis of inheritance pattern determination in genes that cause rare neurodevelopmental diseases | ||
|---|---|---|---|
| Announcements | Frontiers in Genetics | Date of publication | 2022-9 |
| Co-researcher | |||
| Pubmed URL | https://www.ncbi.nlm.nih.gov/pubmed/36212160/ | ||
| Article | Radiographic Factors for Progression of Thoracolumbar Kyphosis in Achondroplasia Patients after Walking Age: A Generalized Estimating Equation Analysis | ||
|---|---|---|---|
| Announcements | Clinics in Orthopedic Surgery | Date of publication | 2022-9 |
| Co-researcher | |||
| Pubmed URL | https://www.ncbi.nlm.nih.gov/pubmed/36061843/ | ||
| Article | Clinical management and emerging therapies of FGFR3-related skeletal dysplasia in childhood | ||
|---|---|---|---|
| Announcements | ANNALS OF PEDIATRIC ENDOCRINOLOGY & METABOLISM | Date of publication | 2022-6 |
| Co-researcher | |||
| Pubmed URL | https://www.ncbi.nlm.nih.gov/pubmed/35793999/ | ||
| Article | Neurotoxicity of phenylalanine on human iPSC-derived cerebral organoids | ||
|---|---|---|---|
| Announcements | MOLECULAR GENETICS AND METABOLISM | Date of publication | 2022-6 |
| Co-researcher | |||
| Pubmed URL | https://www.ncbi.nlm.nih.gov/pubmed/35562278/ | ||
| Article | The First Korean Case of Griscelli Syndrome Type 2 With Hemophagocytic Lymphohistiocytosis and Partial Albinism | ||
|---|---|---|---|
| Announcements | ANNALS OF LABORATORY MEDICINE | Date of publication | 2022-5 |
| Co-researcher | |||
| Pubmed URL | https://www.ncbi.nlm.nih.gov/pubmed/34907113/ | ||
| Article | Skewed X-Chromosome Inactivation in a Korean Girl with Severe Mucopolysaccharidosis Type II | ||
|---|---|---|---|
| Announcements | ANNALS OF LABORATORY MEDICINE | Date of publication | 2022-5 |
| Co-researcher | |||
| Pubmed URL | https://www.ncbi.nlm.nih.gov/pubmed/34907110/ | ||
| Article | Somatic uniparental disomy mitigates the most damaging efl1 allele combination in shwachman-diamond syndrome. | ||
|---|---|---|---|
| Announcements | BLOOD | Date of publication | 2021-1 |
| Co-researcher | |||
| Pubmed URL | https://www.ncbi.nlm.nih.gov/pubmed/34115847/ | ||
| Article | Extended phenotypes of piezo1-related lymphatic dysplasia caused by two novel compound heterozygous variants. | ||
|---|---|---|---|
| Announcements | EUROPEAN JOURNAL OF MEDICAL GENETICS | Date of publication | 2021-0 |
| Co-researcher | |||
| Pubmed URL | https://www.ncbi.nlm.nih.gov/pubmed/34371190/ | ||
| Article | Prospective study of epigenetic alterations responsible for isolated hemihyperplasia/hemihypoplasia and their association with leg length discrepancy. | ||
|---|---|---|---|
| Announcements | ORPHANET JOURNAL OF RARE DISEASES | Date of publication | 2021-0 |
| Co-researcher | |||
| Pubmed URL | https://www.ncbi.nlm.nih.gov/pubmed/34627330/ | ||
| Article | Genetic and clinical heterogeneity in korean patients with rubinstein-taybi syndrome. | ||
|---|---|---|---|
| Announcements | MOLECULAR GENETICS & GENOMIC MEDICINE | Date of publication | 2021-0 |
| Co-researcher | |||
| Pubmed URL | https://www.ncbi.nlm.nih.gov/pubmed/34427995/ | ||
| Article | Clinical application of sequential epigenetic analysis for diagnosis of silver-russell syndrome. | ||
|---|---|---|---|
| Announcements | ANNALS OF LABORATORY MEDICINE | Date of publication | 2021-7 |
| Co-researcher | |||
| Pubmed URL | https://www.ncbi.nlm.nih.gov/pubmed/33536359/ | ||
| Article | Novel hexa variants in korean children with tay-sachs disease with regression of neurodevelopment from infancy. | ||
|---|---|---|---|
| Announcements | MOLECULAR GENETICS & GENOMIC MEDICINE | Date of publication | 2021-6 |
| Co-researcher | |||
| Pubmed URL | https://www.ncbi.nlm.nih.gov/pubmed/33811753/ | ||
| Article | Multilevel airway stenosis being bypassed by a customized tracheostomy tube in an infant with myhre syndrome. | ||
|---|---|---|---|
| Announcements | PEDIATRIC ALLERGY IMMUNOLOGY AND PULMONOLOGY | Date of publication | 2021-6 |
| Co-researcher | |||
| Pubmed URL | https://www.ncbi.nlm.nih.gov/pubmed/34143683/ | ||
| Article | Importance of extracutaneous organ involvement in determining the clinical severity and prognosis of incontinentia pigmenti caused by mutations in the ikbkg gene. | ||
|---|---|---|---|
| Announcements | EXPERIMENTAL DERMATOLOGY | Date of publication | 2021-5 |
| Co-researcher | |||
| Pubmed URL | https://www.ncbi.nlm.nih.gov/pubmed/33655605/ | ||
| Article | Clinical and molecular spectra of braf-associated rasopathy. | ||
|---|---|---|---|
| Announcements | JOURNAL OF HUMAN GENETICS | Date of publication | 2021-4 |
| Co-researcher | |||
| Pubmed URL | https://www.ncbi.nlm.nih.gov/pubmed/33040082/ | ||
| Article | Combined lung and liver transplantation for noncirrhotic portal hypertension with severe hepatopulmonary syndrome in a patient with dyskeratosis congenita. | ||
|---|---|---|---|
| Announcements | PEDIATRIC TRANSPLANTATION | Date of publication | 2021-3 |
| Co-researcher | |||
| Pubmed URL | https://www.ncbi.nlm.nih.gov/pubmed/32777145/ | ||
| Article | A case of chops syndrome accompanied with moyamoya disease and systemic vasculopathy. | ||
|---|---|---|---|
| Announcements | BRAIN & DEVELOPMENT | Date of publication | 2021-3 |
| Co-researcher | |||
| Pubmed URL | https://www.ncbi.nlm.nih.gov/pubmed/33248856/ | ||
| Article | Paternal uniparental disomy of the entire chromosome 20 in a child with beckwith-wiedemann syndrome. | ||
|---|---|---|---|
| Announcements | GENES | Date of publication | 2021-2 |
| Co-researcher | |||
| Pubmed URL | https://www.ncbi.nlm.nih.gov/pubmed/33513760/ | ||
| Article | Predictors of cervical myelopathy and hydrocephalus in young children with achondroplasia. | ||
|---|---|---|---|
| Announcements | ORPHANET JOURNAL OF RARE DISEASES | Date of publication | 2021-2 |
| Co-researcher | |||
| Pubmed URL | https://www.ncbi.nlm.nih.gov/pubmed/33579320/ | ||
| Article | Clinical and molecular characteristics of gnas inactivation disorders observed in 18 korean patients. | ||
|---|---|---|---|
| Announcements | EXPERIMENTAL AND CLINICAL ENDOCRINOLOGY & DIABETES | Date of publication | 2021-2 |
| Co-researcher | |||
| Pubmed URL | https://www.ncbi.nlm.nih.gov/pubmed/31546270/ | ||
| Article | Hyperammonemic encephalopathy mimicking ornithine transcarbamylase deficiency in fibrolamellar hepatocellular carcinoma: successful treatment with continuous venovenous hemofiltration and ammonia scavengers. | ||
|---|---|---|---|
| Announcements | CANCER RESEARCH AND TREATMENT | Date of publication | 2021-1 |
| Co-researcher | |||
| Pubmed URL | https://www.ncbi.nlm.nih.gov/pubmed/32898940/ | ||
| Article | Clinical and genetic profiling of nevoid basal cell carcinoma syndrome in korean patients by whole-exome sequencing. | ||
|---|---|---|---|
| Announcements | SCIENTIFIC REPORTS | Date of publication | 2021-1 |
| Co-researcher | |||
| Pubmed URL | https://www.ncbi.nlm.nih.gov/pubmed/33441926/ | ||
| Article | The gba p.g85e mutation in korean patients with non-neuronopathic gaucher disease: founder and neuroprotective effects. | ||
|---|---|---|---|
| Announcements | ORPHANET JOURNAL OF RARE DISEASES | Date of publication | 2020-1 |
| Co-researcher | |||
| Pubmed URL | https://www.ncbi.nlm.nih.gov/pubmed/33176831/ | ||
| Article | Lentigo maligna in a patient with xeroderma pigmentosum, variant type: a case report with dermoscopic findings and review of the literature. | ||
|---|---|---|---|
| Announcements | PHOTODERMATOLOGY PHOTOIMMUNOLOGY & PHOTOMEDICINE | Date of publication | 2020-9 |
| Co-researcher | |||
| Pubmed URL | https://www.ncbi.nlm.nih.gov/pubmed/32379927/ | ||
| Article | A korean child diagnosed with malonic aciduria harboring a novel start codon mutation following presentation with dilated cardiomyopathy. | ||
|---|---|---|---|
| Announcements | MOLECULAR GENETICS & GENOMIC MEDICINE | Date of publication | 2020-9 |
| Co-researcher | |||
| Pubmed URL | https://www.ncbi.nlm.nih.gov/pubmed/32602666/ | ||
| Article | Detailed analysis of phenotypes and genotypes in megalencephaly-capillary malformation-polymicrogyria syndrome caused by somatic mosaicism of pik3ca mutations. | ||
|---|---|---|---|
| Announcements | ORPHANET JOURNAL OF RARE DISEASES | Date of publication | 2020-8 |
| Co-researcher | |||
| Pubmed URL | https://www.ncbi.nlm.nih.gov/pubmed/32778138/ | ||
| Article | Generalized skin hyperpigmentation as the only manifestation of x-linked adrenoleucodystrophy. | ||
|---|---|---|---|
| Announcements | BRITISH JOURNAL OF DERMATOLOGY | Date of publication | 2020-1 |
| Co-researcher | |||
| Pubmed URL | https://www.ncbi.nlm.nih.gov/pubmed/31269232/ | ||
| Article | Genomic profiling of 553 uncharacterized neurodevelopment patients reveals a high proportion of recessive pathogenic variant carriers in an outbred population. | ||
|---|---|---|---|
| Announcements | SCIENTIFIC REPORTS | Date of publication | 2020-1 |
| Co-researcher | |||
| Pubmed URL | https://www.ncbi.nlm.nih.gov/pubmed/31996704/ | ||
| Article | Generation of a patient-specific induced pluripotent stem cell line, kscbi006-a, for osteogenesis imperfecta type i with the col1a1, c3162delt mutation. | ||
|---|---|---|---|
| Announcements | STEM CELL RESEARCH | Date of publication | 2019-2 |
| Co-researcher | |||
| Article | A 9-year-old korean girl with fontaine progeroid syndrome: a case report with further phenotypical delineation and description of clinical course during long-term follow-up. | ||
|---|---|---|---|
| Announcements | BMC MEDICAL GENETICS | Date of publication | 2019-1 |
| Co-researcher | |||
| Article | Missense mutations in nkap cause a disorder of transcriptional regulation characterized by marfanoid habitus and cognitive impairment. | ||
|---|---|---|---|
| Announcements | AMERICAN JOURNAL OF HUMAN GENETICS | Date of publication | 2019-1 |
| Co-researcher | |||
| Article | Phenotypic and genetic characteristics of five korean patients with costello syndrome. | ||
|---|---|---|---|
| Announcements | CYTOGENETIC AND GENOME RESEARCH | Date of publication | 2019-9 |
| Co-researcher | |||
| Article | Hyperammonemia in a case of herpes simplex and anti-n-methyl-d-aspartate receptor encephalitis. | ||
|---|---|---|---|
| Announcements | BRAIN & DEVELOPMENT | Date of publication | 2019-8 |
| Co-researcher | |||
| Article | Deletion of exons 16-17b of cftr is frequently identified in korean patients with cystic fibrosis. | ||
|---|---|---|---|
| Announcements | EUROPEAN JOURNAL OF MEDICAL GENETICS | Date of publication | 2019-8 |
| Co-researcher | |||
| Article | Novel and private eda mutations and clinical phenotypes of korean patients with x-linked hypohidrotic ectodermal dysplasia. | ||
|---|---|---|---|
| Announcements | CYTOGENETIC AND GENOME RESEARCH | Date of publication | 2019-1 |
| Co-researcher | |||
| Article | The korean undiagnosed diseases program: lessons from a one-year pilot project. | ||
|---|---|---|---|
| Announcements | ORPHANET JOURNAL OF RARE DISEASES | Date of publication | 2019-1 |
| Co-researcher | |||
| Article | Clinical features of multiple acyl-coa dehydrogenase deficiency with etfdh variants in the first korean cases. | ||
|---|---|---|---|
| Announcements | ANNALS OF LABORATORY MEDICINE | Date of publication | 2018-1 |
| Co-researcher | |||
| Article | A 3-month-old boy with progressive weakness. | ||
|---|---|---|---|
| Announcements | BRAIN PATHOLOGY | Date of publication | 2018-0 |
| Co-researcher | |||
| Article | Devicnv: detection and visualization of exon-level copy number variants in targeted next-generation sequencing data. | ||
|---|---|---|---|
| Announcements | BMC BIOINFORMATICS | Date of publication | 2018-0 |
| Co-researcher | |||
| Article | Cutaneous skeletal hypophosphatemia syndrome in association with a mosaic hras mutation. | ||
|---|---|---|---|
| Announcements | ANNALS OF CLINICAL AND LABORATORY SCIENCE | Date of publication | 2018-9 |
| Co-researcher | |||
| Article | Low prevalence of argininosuccinate lyase deficiency among inherited urea cycle disorders in korea. | ||
|---|---|---|---|
| Announcements | JOURNAL OF HUMAN GENETICS | Date of publication | 2018-7 |
| Co-researcher | |||
| Article | A new integrated newborn screening workflow can provide a shortcut to differential diagnosis and confirmation of inherited metabolic diseases. | ||
|---|---|---|---|
| Announcements | YONSEI MEDICAL JOURNAL | Date of publication | 2018-7 |
| Co-researcher | |||
| Article | Chromosomal microarray: application for congenital heart diseases. | ||
|---|---|---|---|
| Announcements | KOREAN CIRCULATION JOURNAL | Date of publication | 2018-3 |
| Co-researcher | |||
| Article | A case of an infant suspected as image syndrome who were finally diagnosed with mirage syndrome by targeted mendelian exome sequencing. | ||
|---|---|---|---|
| Announcements | BMC MEDICAL GENETICS | Date of publication | 2018-3 |
| Co-researcher | |||
| Article | Novel SLC37A4 Mutations in Korean Patients With Glycogen Storage Disease lb | ||
|---|---|---|---|
| Announcements | ANNALS OF LABORATORY MEDICINE | Date of publication | 2017-1 |
| Co-researcher | |||
| Pubmed URL | https://www.ncbi.nlm.nih.gov/pubmed/28224773/ | ||
| Article | A 7-year-old girl presenting with a Bartter-like phenotype: Answers | ||
|---|---|---|---|
| Announcements | PEDIATRIC NEPHROLOGY | Date of publication | 2017-1 |
| Co-researcher | |||
| Pubmed URL | https://www.ncbi.nlm.nih.gov/pubmed/27534763/ | ||
| Article | A 7-year-old girl presenting with a Bartter-like phenotype: Questions | ||
|---|---|---|---|
| Announcements | PEDIATRIC NEPHROLOGY | Date of publication | 2017-1 |
| Co-researcher | |||
| Pubmed URL | https://www.ncbi.nlm.nih.gov/pubmed/27534762/ | ||
| Article | Wiedemann-Steiner Syndrome With 2 Novel KMT2A Mutations: Variable Severity in Psychomotor Development and Musculoskeletal Manifestation | ||
|---|---|---|---|
| Announcements | JOURNAL OF CHILD NEUROLOGY | Date of publication | 2017-1 |
| Co-researcher | |||
| Pubmed URL | https://www.ncbi.nlm.nih.gov/pubmed/27777327/ | ||
| Article | Loss of podocalyxin causes a novel syndromic type of congenital nephrotic syndrome. | ||
|---|---|---|---|
| Announcements | EXPERIMENTAL AND MOLECULAR MEDICINE | Date of publication | 2017-1 |
| Co-researcher | |||
| Pubmed URL | https://www.ncbi.nlm.nih.gov/pubmed/29244787/ | ||
| Article | Clinical characteristics and mutation spectrum of GLA in Korean patients with Fabry disease by a nationwide survey Underdiagnosis of late-onset phenotype | ||
|---|---|---|---|
| Announcements | MEDICINE | Date of publication | 2017-1 |
| Co-researcher | |||
| Pubmed URL | https://www.ncbi.nlm.nih.gov/pubmed/28723748/ | ||
| Article | Korean Monozygotic Twins with Lethal Acantholytic Epidermolysis Bullosa Caused by Two Novel DSP Mutations | ||
|---|---|---|---|
| Announcements | ANNALS OF CLINICAL AND LABORATORY SCIENCE | Date of publication | 2017-1 |
| Co-researcher | |||
| Pubmed URL | https://www.ncbi.nlm.nih.gov/pubmed/28442525/ | ||
| Article | First Korean Patients with Craniofrontonasal Syndrome Confirmed by EFNB1 Analysis. | ||
|---|---|---|---|
| Announcements | ANNALS OF CLINICAL AND LABORATORY SCIENCE | Date of publication | 2016-1 |
| Co-researcher | |||
| Pubmed URL | https://www.ncbi.nlm.nih.gov/pubmed/27650623/ | ||
| Article | SOFT syndrome caused by compound heterozygous mutations of POC1A and its skeletal manifestation. | ||
|---|---|---|---|
| Announcements | JOURNAL OF HUMAN GENETICS | Date of publication | 2016-1 |
| Co-researcher | |||
| Pubmed URL | https://www.ncbi.nlm.nih.gov/pubmed/26791357/ | ||
| Article | Targeted exome sequencing resolves allelic and the genetic heterogeneity in the genetic diagnosis of nephronophthisis-related ciliopathy. | ||
|---|---|---|---|
| Announcements | EXPERIMENTAL AND MOLECULAR MEDICINE | Date of publication | 2016-1 |
| Co-researcher | |||
| Pubmed URL | https://www.ncbi.nlm.nih.gov/pubmed/27491411/ | ||
| Article | Novel and Recurrent ACADS Mutations and Clinical Manifestations Observed in Korean Patients with Short-chain Acyl-coenzyme a Dehydrogenase Deficiency. | ||
|---|---|---|---|
| Announcements | ANNALS OF CLINICAL AND LABORATORY SCIENCE | Date of publication | 2016-1 |
| Co-researcher | |||
| Pubmed URL | https://www.ncbi.nlm.nih.gov/pubmed/27466294/ | ||
| Article | Rare Korean Cases of Very-long-chain Acyl-CoA Dehydrogenase Deficiency with a Novel Recurrent Mutation. | ||
|---|---|---|---|
| Announcements | ANNALS OF CLINICAL AND LABORATORY SCIENCE | Date of publication | 2016-1 |
| Co-researcher | |||
| Pubmed URL | https://www.ncbi.nlm.nih.gov/pubmed/26927351/ | ||
| Article | Cerebellar vermis hypoplasia in CHARGE syndrome: clinical and molecular characterization of 18 unrelated Korean patients. | ||
|---|---|---|---|
| Announcements | JOURNAL OF HUMAN GENETICS | Date of publication | 2016-1 |
| Co-researcher | |||
| Pubmed URL | https://www.ncbi.nlm.nih.gov/pubmed/26538304/ | ||
| Article | Genetic Syndromes Associated with Craniosynostosis. | ||
|---|---|---|---|
| Announcements | JOURNAL OF KOREAN NEUROSURGICAL SOCIETY | Date of publication | 2016-1 |
| Co-researcher | |||
| Pubmed URL | https://www.ncbi.nlm.nih.gov/pubmed/27226847/ | ||
| Article | Skeletal overgrowth syndrome caused by overexpression of C-type natriuretic peptide in a girl with balanced chromosomal translocation, t(1;2)(q41;q37.1). | ||
|---|---|---|---|
| Announcements | AMERICAN JOURNAL OF MEDICAL GENETICS PART A | Date of publication | 2015-1 |
| Co-researcher | |||
| Pubmed URL | https://www.ncbi.nlm.nih.gov/pubmed/25728306/ | ||
| Article | Korean Monozygotic Twins with Lethal Acantholytic Epidermolysis Bullosa Caused by Two Novel DSP Mutations | ||
|---|---|---|---|
| Announcements | ANNALS OF CLINICAL AND LABORATORY SCIENCE | Date of publication | 2015-1 |
| Co-researcher | |||
| Pubmed URL | https://www.ncbi.nlm.nih.gov/pubmed/28442525/ | ||
| Article | Novel SLC37A4 Mutations in Korean Patients With Glycogen Storage Disease lb | ||
|---|---|---|---|
| Announcements | ANNALS OF LABORATORY MEDICINE | Date of publication | 2015-1 |
| Co-researcher | |||
| Pubmed URL | https://www.ncbi.nlm.nih.gov/pubmed/28224773/ | ||
| Article | Clinical characteristics and mutation spectrum of GLA in Korean patients with Fabry disease by a nationwide survey Underdiagnosis of late-onset phenotype | ||
|---|---|---|---|
| Announcements | MEDICINE | Date of publication | 2015-1 |
| Co-researcher | |||
| Pubmed URL | https://www.ncbi.nlm.nih.gov/pubmed/28723748/ | ||
| Article | Wiedemann-Steiner Syndrome With 2 Novel KMT2A Mutations: Variable Severity in Psychomotor Development and Musculoskeletal Manifestation | ||
|---|---|---|---|
| Announcements | JOURNAL OF CHILD NEUROLOGY | Date of publication | 2015-1 |
| Co-researcher | |||
| Pubmed URL | https://www.ncbi.nlm.nih.gov/pubmed/27777327/ | ||
| Article | Clinical outcomes and the mutation spectrum of the OTC gene in patients with ornithine transcarbamylase deficiency. | ||
|---|---|---|---|
| Announcements | JOURNAL OF HUMAN GENETICS | Date of publication | 2015-1 |
| Co-researcher | |||
| Pubmed URL | https://www.ncbi.nlm.nih.gov/pubmed/25994866/ | ||
| Article | Genetic Syndromes associated with Congenital Heart Disease | ||
|---|---|---|---|
| Announcements | KOREAN CIRCULATION JOURNAL | Date of publication | 2015-1 |
| Co-researcher | |||
| Pubmed URL | https://www.ncbi.nlm.nih.gov/pubmed/26413101/ | ||
| Article | Identification of novel mutations in the VPS33B gene involved in arthrogryposis, renal dysfunction, and cholestasis syndrome. | ||
|---|---|---|---|
| Announcements | CLINICAL GENETICS | Date of publication | 2015-1 |
| Co-researcher | |||
| Pubmed URL | https://www.ncbi.nlm.nih.gov/pubmed/24917129/ | ||
| Article | Fuchs Endothelial Corneal Dystrophy in a Heterozygous Carrier of Congenital Hereditary Endothelial Dystrophy Type 2 with a Novel Mutation in SLC4A11. | ||
|---|---|---|---|
| Announcements | OPHTHALMIC GENETICS | Date of publication | 2015-1 |
| Co-researcher | |||
| Pubmed URL | https://www.ncbi.nlm.nih.gov/pubmed/24502824/ | ||
| Article | A Phase 2 Multi-center, Open-label, Switch-over Trial to Evaluate the Safety and Efficacy of Abcertin® in Patients with Type 1 Gaucher Disease. | ||
|---|---|---|---|
| Announcements | JOURNAL OF KOREAN MEDICAL SCIENCE | Date of publication | 2015-1 |
| Co-researcher | |||
| Pubmed URL | https://www.ncbi.nlm.nih.gov/pubmed/25829804/ | ||
| Article | Rare cases of congenital arthrogryposis multiplex caused by novel recurrent CHRNG mutations. | ||
|---|---|---|---|
| Announcements | JOURNAL OF HUMAN GENETICS | Date of publication | 2015-1 |
| Co-researcher | |||
| Pubmed URL | https://www.ncbi.nlm.nih.gov/pubmed/25608830/ | ||
| Article | A novel NOTCH2 mutation identified in a Korean family with Hajdu-Cheney syndrome showing phenotypic diversity. | ||
|---|---|---|---|
| Announcements | ANNALS OF CLINICAL AND LABORATORY SCIENCE | Date of publication | 2015-1 |
| Co-researcher | |||
| Pubmed URL | https://www.ncbi.nlm.nih.gov/pubmed/25696021/ | ||
| Article | Monochorionic dizygotic twins with discordant sex and confined blood chimerism | ||
|---|---|---|---|
| Announcements | EUROPEAN JOURNAL OF PEDIATRICS | Date of publication | 2014-1 |
| Co-researcher | |||
| Pubmed URL | https://www.ncbi.nlm.nih.gov/pubmed/24706113/ | ||
| Article | Living donor liver transplantation for an infant with osteogenesis imperfecta and intrahepatic cholestasis: report of a case. | ||
|---|---|---|---|
| Announcements | JOURNAL OF KOREAN MEDICAL SCIENCE | Date of publication | 2014-1 |
| Co-researcher | |||
| Pubmed URL | https://www.ncbi.nlm.nih.gov/pubmed/24616597/ | ||
| Article | KISS1 Gene Polymorphisms in Korean Girls with Central Precocious Puberty | ||
|---|---|---|---|
| Announcements | JOURNAL OF KOREAN MEDICAL SCIENCE | Date of publication | 2014-1 |
| Co-researcher | |||
| Pubmed URL | https://www.ncbi.nlm.nih.gov/pubmed/25120323/ | ||
| Article | Identification of KMT2D and KDM6A mutations by exome sequencing in Korean patients with Kabuki syndrome | ||
|---|---|---|---|
| Announcements | JOURNAL OF HUMAN GENETICS | Date of publication | 2014-1 |
| Co-researcher | |||
| Pubmed URL | https://www.ncbi.nlm.nih.gov/pubmed/24739679/ | ||
| Article | First Identified Korean Family with Sotos Syndrome Caused by a Novel Intragenic Mutation in NSD1 | ||
|---|---|---|---|
| Announcements | ANNALS OF CLINICAL AND LABORATORY SCIENCE | Date of publication | 2014-1 |
| Co-researcher | |||
| Pubmed URL | https://www.ncbi.nlm.nih.gov/pubmed/24795065/ | ||
| Article | TAGLN expression is upregulated in NF1-associated malignant peripheral nerve sheath tumors by hypomethylation in its promoter and subpromoter regions | ||
|---|---|---|---|
| Announcements | ONCOLOGY REPORTS | Date of publication | 2014-1 |
| Co-researcher | |||
| Pubmed URL | https://www.ncbi.nlm.nih.gov/pubmed/25109740/ | ||
| Article | First Korean family with a mutation in TPM2 associated with Sheldon-Hall syndrome. | ||
|---|---|---|---|
| Announcements | JOURNAL OF KOREAN MEDICAL SCIENCE | Date of publication | 2013-1 |
| Co-researcher | |||
| Pubmed URL | https://www.ncbi.nlm.nih.gov/pubmed/23678273/ | ||
| Article | Monozygotic twin discordant for Down syndrome: mos 47,XX,+21/46,XX and 46,XX. | ||
|---|---|---|---|
| Announcements | EUROPEAN JOURNAL OF PEDIATRICS | Date of publication | 2013-1 |
| Co-researcher | |||
| Pubmed URL | https://www.ncbi.nlm.nih.gov/pubmed/23559333/ | ||
| Article | Clinical and genetic spectrum of 18 unrelated Korean patients with Sotos syndrome: frequent 5q35 microdeletion and identification of four novel NSD1 mutations. | ||
|---|---|---|---|
| Announcements | JOURNAL OF HUMAN GENETICS | Date of publication | 2013-1 |
| Co-researcher | |||
| Pubmed URL | https://www.ncbi.nlm.nih.gov/pubmed/23190751/ | ||
| Article | Mutation spectrum of NF1 and clinical characteristics in 78 Korean patients with neurofibromatosis type 1. | ||
|---|---|---|---|
| Announcements | PEDIATRIC NEUROLOGY | Date of publication | 2013-1 |
| Co-researcher | |||
| Pubmed URL | https://www.ncbi.nlm.nih.gov/pubmed/23668869/ | ||
| Article | An interstitial, apparently-balanced chromosomal insertion in the etiology of Langer-Giedion syndrome in an Asian family. | ||
|---|---|---|---|
| Announcements | EUROPEAN JOURNAL OF MEDICAL GENETICS | Date of publication | 2013-1 |
| Co-researcher | |||
| Pubmed URL | https://www.ncbi.nlm.nih.gov/pubmed/23832104/ | ||
| Article | Distinct neurological features in a patient with Schinzel-Giedion syndrome caused by a recurrent SETBP1 mutation. | ||
|---|---|---|---|
| Announcements | CHILDS NERVOUS SYSTEM | Date of publication | 2013-1 |
| Co-researcher | |||
| Pubmed URL | https://www.ncbi.nlm.nih.gov/pubmed/23400866/ | ||
| Article | Array-based comparative genomic hybridization in 190 Korean patients with developmental delay and/or intellectual disability: a single tertiary care university center study. | ||
|---|---|---|---|
| Announcements | YONSEI MEDICAL JOURNAL | Date of publication | 2013-1 |
| Co-researcher | |||
| Pubmed URL | https://www.ncbi.nlm.nih.gov/pubmed/24142652/ | ||