成炆佑
Department
诊断检验医学科
肿瘤诊断检验中心
Specialty
网上预约
Molecular genetics
,
Molecular diagnosis
Molecular diagnosis
Education / Career
| Article | Guidelines for Mobile Laboratories for Molecular Diagnostic Testing of COVID-19 | ||
|---|---|---|---|
| Announcements | ANNALS OF LABORATORY MEDICINE | Date of publication | 2022-9 |
| Co-researcher | |||
| Pubmed URL | https://www.ncbi.nlm.nih.gov/pubmed/35470270/ | ||
| Article | Clinical staging and genetic profiling of Korean patients with primary lymphedema using targeted gene sequencing | ||
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| Announcements | SCIENTIFIC REPORTS | Date of publication | 2022-8 |
| Co-researcher | |||
| Pubmed URL | https://www.ncbi.nlm.nih.gov/pubmed/35948757/ | ||
| Article | Update of Guidelines for Laboratory Diagnosis of COVID-19 in Korea | ||
|---|---|---|---|
| Announcements | ANNALS OF LABORATORY MEDICINE | Date of publication | 2022-7 |
| Co-researcher | |||
| Pubmed URL | https://www.ncbi.nlm.nih.gov/pubmed/35177559/ | ||
| Article | Skewed X-Chromosome Inactivation in a Korean Girl with Severe Mucopolysaccharidosis Type II | ||
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| Announcements | ANNALS OF LABORATORY MEDICINE | Date of publication | 2022-5 |
| Co-researcher | |||
| Pubmed URL | https://www.ncbi.nlm.nih.gov/pubmed/34907110/ | ||
| Article | Epidemiologic Trends of Thalassemia, 2006-2018: A Nationwide Population-Based Study | ||
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| Announcements | JOURNAL OF CLINICAL MEDICINE | Date of publication | 2022-5 |
| Co-researcher | |||
| Pubmed URL | https://www.ncbi.nlm.nih.gov/pubmed/35566415/ | ||
| Article | The First Korean Case of Griscelli Syndrome Type 2 With Hemophagocytic Lymphohistiocytosis and Partial Albinism | ||
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| Announcements | ANNALS OF LABORATORY MEDICINE | Date of publication | 2022-5 |
| Co-researcher | |||
| Pubmed URL | https://www.ncbi.nlm.nih.gov/pubmed/34907113/ | ||
| Article | Diagnosis and treatment of nail melanoma: a review of the clinicopathologic, dermoscopic, and genetic characteristics | ||
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| Announcements | JOURNAL OF THE EUROPEAN ACADEMY OF DERMATOLOGY AND VENEREOLOGY | Date of publication | 2022-5 |
| Co-researcher | |||
| Pubmed URL | https://www.ncbi.nlm.nih.gov/pubmed/35098589/ | ||
| Article | Genetic mutation spectrum of pantothenate kinase-associated neurodegeneration expanded by breakpoint sequencing in pantothenate kinase 2 gene | ||
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| Announcements | ORPHANET JOURNAL OF RARE DISEASES | Date of publication | 2022-3 |
| Co-researcher | |||
| Pubmed URL | https://www.ncbi.nlm.nih.gov/pubmed/35246191/ | ||
| Article | Consistent count region-copy number variation (CCR-CNV): an expandable and robust tool for clinical diagnosis of copy number variation at the exon level using next-generation sequencing data | ||
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| Announcements | GENETICS IN MEDICINE | Date of publication | 2022-3 |
| Co-researcher | |||
| Pubmed URL | https://www.ncbi.nlm.nih.gov/pubmed/34906491/ | ||
| Article | SnackNTM: An Open-Source Software for Sanger Sequencing-based Identification of Nontuberculous Mycobacterial Species | ||
|---|---|---|---|
| Announcements | ANNALS OF LABORATORY MEDICINE | Date of publication | 2022-3 |
| Co-researcher | |||
| Pubmed URL | https://www.ncbi.nlm.nih.gov/pubmed/34635615/ | ||
| Article | SARS-CoV-2 shedding dynamics and transmission in immunosuppressed patients | ||
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| Announcements | VIRULENCE | Date of publication | 2022-2 |
| Co-researcher | |||
| Pubmed URL | https://www.ncbi.nlm.nih.gov/pubmed/35891618/ | ||
| Article | Clinical application of the Panbio™ COVID-19 Ag rapid test device and SSf-COVID19 kit for the detection of SARS-CoV-2 infection | ||
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| Announcements | BMC Research Notes | Date of publication | 2022-2 |
| Co-researcher | |||
| Pubmed URL | https://www.ncbi.nlm.nih.gov/pubmed/36470931/ | ||
| Article | Clinical and molecular delineation of mandibulofacial dysostosis with microcephaly in six Korean patients: When to consider EFTUD2 analysis? | ||
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| Announcements | EUROPEAN JOURNAL OF MEDICAL GENETICS | Date of publication | 2022-2 |
| Co-researcher | |||
| Pubmed URL | https://www.ncbi.nlm.nih.gov/pubmed/35395430/ | ||
| Article | Threshold of Quantitative Cytomegalovirus DNA PCR for Preemptive Treatment in Pediatric Hematopoietic Stem Cell Transplant Recipients | ||
|---|---|---|---|
| Announcements | JOURNAL OF PEDIATRIC HEMATOLOGY ONCOLOGY | Date of publication | 2022-2 |
| Co-researcher | |||
| Pubmed URL | https://www.ncbi.nlm.nih.gov/pubmed/35482472/ | ||
| Article | Parallel Analysis of Pre- and Postoperative Circulating Tumor DNA and Matched Tumor Tissues in Resectable Pancreatic Ductal Adenocarcinoma: A Prospective Cohort Study | ||
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| Announcements | CLINICAL CHEMISTRY | Date of publication | 2022-2 |
| Co-researcher | |||
| Pubmed URL | https://www.ncbi.nlm.nih.gov/pubmed/36177751/ | ||
| Article | Intronic LINE-1 insertion in SLCO1B3 as a highly prevalent cause of rotor syndrome in East Asian population | ||
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| Announcements | JOURNAL OF HUMAN GENETICS | Date of publication | 2022-2 |
| Co-researcher | |||
| Pubmed URL | https://www.ncbi.nlm.nih.gov/pubmed/34354231/ | ||
| Article | Association of Tandem Repeat Number Variabilities in Subunit S of the Type I Restriction-Modification System with Macrolide Resistance in Mycoplasma pneumoniae | ||
|---|---|---|---|
| Announcements | JOURNAL OF CLINICAL MEDICINE | Date of publication | 2022-2 |
| Co-researcher | |||
| Pubmed URL | https://www.ncbi.nlm.nih.gov/pubmed/35160167/ | ||
| Article | Characteristics of germline mutations in Korean patients with pheochromocytoma/paraganglioma | ||
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| Announcements | JOURNAL OF MEDICAL GENETICS | Date of publication | 2022-1 |
| Co-researcher | |||
| Pubmed URL | https://www.ncbi.nlm.nih.gov/pubmed/33219105/ | ||
| Article | Clinical Utility of Methylation-Specific Multiplex Ligation-Dependent Probe Amplification for the Diagnosis of Prader-Willi Syndrome and Angelman Syndrome | ||
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| Announcements | ANNALS OF LABORATORY MEDICINE | Date of publication | 2022-1 |
| Co-researcher | |||
| Pubmed URL | https://www.ncbi.nlm.nih.gov/pubmed/34374352/ | ||
| Article | Rates of Coinfection Between SARS-CoV-2 and Other Respiratory Viruses in Korea | ||
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| Announcements | ANNALS OF LABORATORY MEDICINE | Date of publication | 2022-1 |
| Co-researcher | |||
| Pubmed URL | https://www.ncbi.nlm.nih.gov/pubmed/34374357/ | ||
| Article | ACTG2 Variants in Pediatric Chronic Intestinal Pseudo-obstruction With Megacystis | ||
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| Announcements | JOURNAL OF NEUROGASTROENTEROLOGY AND MOTILITY | Date of publication | 2022-1 |
| Co-researcher | |||
| Pubmed URL | https://www.ncbi.nlm.nih.gov/pubmed/34980693/ | ||
| Article | Immunohistochemical Staining to Identify Concomitant Systemic Mastocytosis in Acute Myeloid Leukemia with RUNX1 ::RUNX1T1 | ||
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| Announcements | ANNALS OF LABORATORY MEDICINE | Date of publication | 2022-1 |
| Co-researcher | |||
| Pubmed URL | https://www.ncbi.nlm.nih.gov/pubmed/35765876/ | ||
| Article | The Korean undiagnosed diseases program phase I: expansion of the nationwide network and the development of long-term infrastructure | ||
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| Announcements | ORPHANET JOURNAL OF RARE DISEASES | Date of publication | 2022-0 |
| Co-researcher | |||
| Pubmed URL | https://www.ncbi.nlm.nih.gov/pubmed/36209187/ | ||
| Article | A Novel Missense PRKAR1A Variant Causes Carney Complex | ||
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| Announcements | Endocrinology and Metabolism | Date of publication | 2022-0 |
| Co-researcher | |||
| Pubmed URL | https://www.ncbi.nlm.nih.gov/pubmed/36193716/ | ||
| Article | Determination of clinical characteristics of mycobacterium kansasii-derived species by reanalysis of isolates formerly reported as m. kansasii. | ||
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| Announcements | ANNALS OF LABORATORY MEDICINE | Date of publication | 2021-9 |
| Co-researcher | |||
| Pubmed URL | https://www.ncbi.nlm.nih.gov/pubmed/33824234/ | ||
| Article | Original article early-onset autosomal dominant gtp-cyclohydrolase i deficiency: diagnostic delay and residual motor signs. | ||
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| Announcements | BRAIN & DEVELOPMENT | Date of publication | 2021-8 |
| Co-researcher | |||
| Pubmed URL | https://www.ncbi.nlm.nih.gov/pubmed/33875303/ | ||
| Article | Accuracy and performance evaluation of triplet repeat primed pcr as an alternative to conventional diagnostic methods for fragile x syndrome. | ||
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| Announcements | ANNALS OF LABORATORY MEDICINE | Date of publication | 2021-7 |
| Co-researcher | |||
| Pubmed URL | https://www.ncbi.nlm.nih.gov/pubmed/33536358/ | ||
| Article | Novel hexa variants in korean children with tay-sachs disease with regression of neurodevelopment from infancy. | ||
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| Announcements | MOLECULAR GENETICS & GENOMIC MEDICINE | Date of publication | 2021-6 |
| Co-researcher | |||
| Pubmed URL | https://www.ncbi.nlm.nih.gov/pubmed/33811753/ | ||
| Article | Longitudinal proteomic profiling provides insights into host response and proteome dynamics in covid-19 progression. | ||
|---|---|---|---|
| Announcements | PROTEOMICS | Date of publication | 2021-6 |
| Co-researcher | |||
| Pubmed URL | https://www.ncbi.nlm.nih.gov/pubmed/33945677/ | ||
| Article | Slc20a2 mutation manifesting as very late-onset orofacial dyskinesia. | ||
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| Announcements | NEUROLOGICAL SCIENCES | Date of publication | 2021-6 |
| Co-researcher | |||
| Pubmed URL | https://www.ncbi.nlm.nih.gov/pubmed/33452934/ | ||
| Article | A nonsense tmem43 variant leads to disruption of connexin-linked function and autosomal dominant auditory neuropathy spectrum disorder. | ||
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| Announcements | PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA | Date of publication | 2021-6 |
| Co-researcher | |||
| Pubmed URL | https://www.ncbi.nlm.nih.gov/pubmed/34050020/ | ||
| Article | A population-based analysis of brca1/2 genes and associated breast and ovarian cancer risk in korean patients: a multicenter cohort study. | ||
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| Announcements | CANCERS | Date of publication | 2021-5 |
| Co-researcher | |||
| Pubmed URL | https://www.ncbi.nlm.nih.gov/pubmed/34063308/ | ||
| Article | Importance of extracutaneous organ involvement in determining the clinical severity and prognosis of incontinentia pigmenti caused by mutations in the ikbkg gene. | ||
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| Announcements | EXPERIMENTAL DERMATOLOGY | Date of publication | 2021-5 |
| Co-researcher | |||
| Pubmed URL | https://www.ncbi.nlm.nih.gov/pubmed/33655605/ | ||
| Article | Diagnosis for pheochromocytoma and paraganglioma: a joint position statement of the korean pheochromocytoma and paraganglioma task force. | ||
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| Announcements | ENDOCRINOLOGY AND METABOLISM | Date of publication | 2021-4 |
| Co-researcher | |||
| Pubmed URL | https://www.ncbi.nlm.nih.gov/pubmed/33820394/ | ||
| Article | Fms-like tyrosine kinase 3-internal tandem duplication allele concentrations should be determined in a mutation-type-specific manner. | ||
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| Announcements | CLINICAL CHEMISTRY | Date of publication | 2021-3 |
| Co-researcher | |||
| Pubmed URL | https://www.ncbi.nlm.nih.gov/pubmed/33686396/ | ||
| Article | Establishment of pediatric reference intervals for routine laboratory tests in korean population: a retrospective multicenter analysis. | ||
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| Announcements | ANNALS OF LABORATORY MEDICINE | Date of publication | 2021-3 |
| Co-researcher | |||
| Pubmed URL | https://www.ncbi.nlm.nih.gov/pubmed/33063677/ | ||
| Article | Strabismus in chronic progressive external ophthalmoplegia. | ||
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| Announcements | ACTA OPHTHALMOLOGICA | Date of publication | 2021-3 |
| Co-researcher | |||
| Pubmed URL | https://www.ncbi.nlm.nih.gov/pubmed/33191655/ | ||
| Article | Noninvasive prenatal test of single-gene disorders by linked-read direct haplotyping: application in various diseases. | ||
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| Announcements | EUROPEAN JOURNAL OF HUMAN GENETICS | Date of publication | 2021-3 |
| Co-researcher | |||
| Pubmed URL | https://www.ncbi.nlm.nih.gov/pubmed/33235377/ | ||
| Article | Leukemic stem cell phenotype is associated with mutational profile in acute myeloid leukemia. | ||
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| Announcements | KOREAN JOURNAL OF INTERNAL MEDICINE | Date of publication | 2021-3 |
| Co-researcher | |||
| Pubmed URL | https://www.ncbi.nlm.nih.gov/pubmed/32811132/ | ||
| Article | Clinical and molecular characteristics of prkaca l206r mutant cortisol-producing adenomas in korean patients. | ||
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| Announcements | ENDOCRINOLOGY AND METABOLISM | Date of publication | 2021-2 |
| Co-researcher | |||
| Pubmed URL | https://www.ncbi.nlm.nih.gov/pubmed/34852451/ | ||
| Article | Snackvar : an open-source software for sanger sequencing analysis optimized for clinical use. | ||
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| Announcements | JOURNAL OF MOLECULAR DIAGNOSTICS | Date of publication | 2021-2 |
| Co-researcher | |||
| Pubmed URL | https://www.ncbi.nlm.nih.gov/pubmed/33246077/ | ||
| Article | Erratum: covid-19 molecular testing in korea: practical essentials and answers from experts based on experiences of emergency use authorization assays. | ||
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| Announcements | ANNALS OF LABORATORY MEDICINE | Date of publication | 2021-1 |
| Co-researcher | |||
| Pubmed URL | https://www.ncbi.nlm.nih.gov/pubmed/32829590/ | ||
| Article | Evidence of severe acute respiratory syndrome coronavirus 2 reinfection after recovery from mild coronavirus disease 2019. | ||
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| Announcements | CLINICAL INFECTIOUS DISEASES | Date of publication | 2021-1 |
| Co-researcher | |||
| Pubmed URL | https://www.ncbi.nlm.nih.gov/pubmed/33219681/ | ||
| Article | Communication: comparison of respiratory specimens for the detection of sars-cov-2. | ||
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| Announcements | ANNALS OF CLINICAL AND LABORATORY SCIENCE | Date of publication | 2021-1 |
| Co-researcher | |||
| Pubmed URL | https://www.ncbi.nlm.nih.gov/pubmed/33653794/ | ||
| Article | Hereditary fructose intolerance diagnosed in adulthood. | ||
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| Announcements | GUT AND LIVER | Date of publication | 2021-1 |
| Co-researcher | |||
| Pubmed URL | https://www.ncbi.nlm.nih.gov/pubmed/33028743/ | ||
| Article | Clinical and genetic profiling of nevoid basal cell carcinoma syndrome in korean patients by whole-exome sequencing. | ||
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| Announcements | SCIENTIFIC REPORTS | Date of publication | 2021-1 |
| Co-researcher | |||
| Pubmed URL | https://www.ncbi.nlm.nih.gov/pubmed/33441926/ | ||
| Article | Stereotypic neutralizing vh antibodies against sars-cov-2 spike protein receptor binding domain in covid-19 patients and healthy individuals. | ||
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| Announcements | SCIENCE TRANSLATIONAL MEDICINE | Date of publication | 2021-1 |
| Co-researcher | |||
| Pubmed URL | https://www.ncbi.nlm.nih.gov/pubmed/33397677/ | ||
| Article | Two cases of facioscapulohumeral muscular dystrophy 2 in korea. | ||
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| Announcements | YONSEI MEDICAL JOURNAL | Date of publication | 2021-1 |
| Co-researcher | |||
| Pubmed URL | https://www.ncbi.nlm.nih.gov/pubmed/33381940/ | ||
| Article | Guidelines for laboratory diagnosis of coronavirus disease 2019 (covid-19) in korea. | ||
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| Announcements | ANNALS OF LABORATORY MEDICINE | Date of publication | 2020-9 |
| Co-researcher | |||
| Pubmed URL | https://www.ncbi.nlm.nih.gov/pubmed/32237288/ | ||
| Article | Lentigo maligna in a patient with xeroderma pigmentosum, variant type: a case report with dermoscopic findings and review of the literature. | ||
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| Announcements | PHOTODERMATOLOGY PHOTOIMMUNOLOGY & PHOTOMEDICINE | Date of publication | 2020-9 |
| Co-researcher | |||
| Pubmed URL | https://www.ncbi.nlm.nih.gov/pubmed/32379927/ | ||
| Article | Detailed analysis of phenotypes and genotypes in megalencephaly-capillary malformation-polymicrogyria syndrome caused by somatic mosaicism of pik3ca mutations. | ||
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| Announcements | ORPHANET JOURNAL OF RARE DISEASES | Date of publication | 2020-8 |
| Co-researcher | |||
| Pubmed URL | https://www.ncbi.nlm.nih.gov/pubmed/32778138/ | ||
| Article | Mutation spectrum and biochemical features in infants with neonatal dubin-johnson syndrome. | ||
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| Announcements | BMC PEDIATRICS | Date of publication | 2020-8 |
| Co-researcher | |||
| Pubmed URL | https://www.ncbi.nlm.nih.gov/pubmed/32758197/ | ||
| Article | A cluster of tertiary transmissions of 2019 novel coronavirus (sars-cov-2) in the community from infectors with common cold symptoms. | ||
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| Announcements | KOREAN JOURNAL OF INTERNAL MEDICINE | Date of publication | 2020-7 |
| Co-researcher | |||
| Pubmed URL | https://www.ncbi.nlm.nih.gov/pubmed/32506866/ | ||
| Article | In vitro activity of lopinavir/ritonavir and hydroxychloroquine against severe acute respiratory syndrome coronavirus 2 at concentrations achievable by usual doses. | ||
|---|---|---|---|
| Announcements | KOREAN JOURNAL OF INTERNAL MEDICINE | Date of publication | 2020-7 |
| Co-researcher | |||
| Pubmed URL | https://www.ncbi.nlm.nih.gov/pubmed/32460458/ | ||
| Article | Molecular diagnosis of glycogen storage disease type ix using a glycogen storage disease gene panel. | ||
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| Announcements | EUROPEAN JOURNAL OF MEDICAL GENETICS | Date of publication | 2020-6 |
| Co-researcher | |||
| Pubmed URL | https://www.ncbi.nlm.nih.gov/pubmed/32244026/ | ||
| Article | Genomic characterization of tbk1 duplication in korean normal-tension glaucoma patients. | ||
|---|---|---|---|
| Announcements | JOURNAL OF GLAUCOMA | Date of publication | 2020-5 |
| Co-researcher | |||
| Pubmed URL | https://www.ncbi.nlm.nih.gov/pubmed/32079994/ | ||
| Article | Replication-based rearrangements are a common mechanism for snca duplication in parkinson's disease. | ||
|---|---|---|---|
| Announcements | MOVEMENT DISORDERS | Date of publication | 2020-5 |
| Co-researcher | |||
| Pubmed URL | https://www.ncbi.nlm.nih.gov/pubmed/32039503/ | ||
| Article | Direct haplotyping-based noninvasive prenatal test for myotonic dystrophy type 1 with large ctg expansion. | ||
|---|---|---|---|
| Announcements | CLINICAL CHEMISTRY | Date of publication | 2020-4 |
| Co-researcher | |||
| Pubmed URL | https://www.ncbi.nlm.nih.gov/pubmed/32167563/ | ||
| Article | Plasma vs. serum in circulating tumor dna measurement: characterization by dna fragment sizing and digital droplet polymerase chain reaction. | ||
|---|---|---|---|
| Announcements | CLINICAL CHEMISTRY AND LABORATORY MEDICINE | Date of publication | 2020-3 |
| Co-researcher | |||
| Pubmed URL | https://www.ncbi.nlm.nih.gov/pubmed/31874093/ | ||
| Article | In-depth blood proteome profiling analysis revealed distinct functional characteristics of plasma proteins between severe and non-severe covid-19 patients. | ||
|---|---|---|---|
| Announcements | SCIENTIFIC REPORTS | Date of publication | 2020-2 |
| Co-researcher | |||
| Pubmed URL | https://www.ncbi.nlm.nih.gov/pubmed/33376242/ | ||
| Article | Virus isolation from the first patient with sars-cov-2 in korea. | ||
|---|---|---|---|
| Announcements | JOURNAL OF KOREAN MEDICAL SCIENCE | Date of publication | 2020-2 |
| Co-researcher | |||
| Pubmed URL | https://www.ncbi.nlm.nih.gov/pubmed/32080990/ | ||
| Article | Nfatc1+cd31+cd45-circulating multipotent stem cells derived from human endocardium and their therapeutic potential. | ||
|---|---|---|---|
| Announcements | BIOMATERIALS | Date of publication | 2020-2 |
| Co-researcher | |||
| Pubmed URL | https://www.ncbi.nlm.nih.gov/pubmed/31865194/ | ||
| Article | Whole exome sequencing identifies novel genetic alterations in patients with pheochromocytoma/paraganglioma. | ||
|---|---|---|---|
| Announcements | ENDOCRINOLOGY AND METABOLISM | Date of publication | 2020-2 |
| Co-researcher | |||
| Pubmed URL | https://www.ncbi.nlm.nih.gov/pubmed/33397043/ | ||
| Article | Covid-19 molecular testing in korea: practical essentials and answers from experts based on experiences of emergency use authorization assays. | ||
|---|---|---|---|
| Announcements | ANNALS OF LABORATORY MEDICINE | Date of publication | 2020-1 |
| Co-researcher | |||
| Pubmed URL | https://www.ncbi.nlm.nih.gov/pubmed/32539299/ | ||
| Article | Sequential analysis of viral load in a neonate and her mother infected with severe acute respiratory syndrome coronavirus 2. | ||
|---|---|---|---|
| Announcements | CLINICAL INFECTIOUS DISEASES | Date of publication | 2020-1 |
| Co-researcher | |||
| Pubmed URL | https://www.ncbi.nlm.nih.gov/pubmed/32297925/ | ||
| Article | Compassionate use of hzvsf-v13 in two patients with severe covid-19. | ||
|---|---|---|---|
| Announcements | JOURNAL OF MEDICAL VIROLOGY | Date of publication | 2020-1 |
| Co-researcher | |||
| Pubmed URL | https://www.ncbi.nlm.nih.gov/pubmed/32458425/ | ||
| Article | Novel compound heterozygous aco2 mutations in an infant with progressive encephalopathy: a newly identified neurometabolic syndrome. | ||
|---|---|---|---|
| Announcements | BRAIN & DEVELOPMENT | Date of publication | 2020-0 |
| Co-researcher | |||
| Pubmed URL | https://www.ncbi.nlm.nih.gov/pubmed/32713659/ | ||
| Article | Viral rna load in mildly symptomatic and asymptomatic children with covid-19, seoul, south korea. | ||
|---|---|---|---|
| Announcements | EMERGING INFECTIOUS DISEASES | Date of publication | 2020-0 |
| Co-researcher | |||
| Pubmed URL | https://www.ncbi.nlm.nih.gov/pubmed/32497001/ | ||
| Article | Nationwide external quality assessment of sars-cov-2 molecular testing, south korea. | ||
|---|---|---|---|
| Announcements | EMERGING INFECTIOUS DISEASES | Date of publication | 2020-0 |
| Co-researcher | |||
| Pubmed URL | https://www.ncbi.nlm.nih.gov/pubmed/32723432/ | ||
| Article | No association between pou4f1, pou4f2, isl1 polymorphisms and normal-tension glaucoma. | ||
|---|---|---|---|
| Announcements | OPHTHALMIC GENETICS | Date of publication | 2020-0 |
| Co-researcher | |||
| Pubmed URL | https://www.ncbi.nlm.nih.gov/pubmed/32597291/ | ||
| Article | External quality assessment of molecular diagnostics for zika virus and middle east respiratory syndrome coronavirus in korea. | ||
|---|---|---|---|
| Announcements | SOUTHEAST ASIAN JOURNAL OF TROPICAL MEDICINE AND PUBLIC HEALTH | Date of publication | 2019-9 |
| 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 | Genetic mutation profiles in korean patients with inherited retinal diseases. | ||
|---|---|---|---|
| Announcements | JOURNAL OF KOREAN MEDICAL SCIENCE | Date of publication | 2019-6 |
| Co-researcher | |||
| Article | Evaluation of the new abbott real-time ebv assay: fully automated quantification of ebv in whole blood by targeting bllf1. | ||
|---|---|---|---|
| Announcements | DIAGNOSTIC MICROBIOLOGY AND INFECTIOUS DISEASE | Date of publication | 2019-6 |
| Co-researcher | |||
| Article | Pitfalls of abo genotyping based on targeted single nucleotide variant analysis due to a nondeletional o allele lacking c. 261delg: first report of abo*o.09.01 in korea. | ||
|---|---|---|---|
| Announcements | ANNALS OF LABORATORY MEDICINE | Date of publication | 2019-5 |
| Co-researcher | |||
| Article | Fabry disease that phenocopies hypertrophic cardiomyopathy: a thorough genetic 'detective' identifies the 'rogue' hidden in the gla gene. | ||
|---|---|---|---|
| Announcements | KOREAN CIRCULATION JOURNAL | Date of publication | 2019-5 |
| Co-researcher | |||
| Article | Increased prevalence of thalassemia in young people in korea: impact of increasing immigration. | ||
|---|---|---|---|
| Announcements | ANNALS OF LABORATORY MEDICINE | Date of publication | 2019-3 |
| Co-researcher | |||
| Article | Importance of early diagnosis in lmna-related muscular dystrophy for cardiac surveillance. | ||
|---|---|---|---|
| Announcements | MUSCLE & NERVE | Date of publication | 2019-2 |
| 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 | Comparative genomics of mycoplasma pneumoniae isolated from children with pneumonia: south korea, 2010-2016. | ||
|---|---|---|---|
| Announcements | BMC GENOMICS | Date of publication | 2019-1 |
| Co-researcher | |||
| Article | Genotypic profile and phenotype correlations of abca4-associated retinopathy in koreans. | ||
|---|---|---|---|
| Announcements | MOLECULAR VISION | Date of publication | 2019-1 |
| Co-researcher | |||
| Article | Pediatric case report on an interstitial lung disease with a novel mutation of sftpc successfully treated with lung transplantation. | ||
|---|---|---|---|
| Announcements | JOURNAL OF KOREAN MEDICAL SCIENCE | Date of publication | 2018-5 |
| Co-researcher | |||
| Article | Diagnostic challenge for the rare lysosomal storage disease: late infantile gm1 gangliosidosis. | ||
|---|---|---|---|
| Announcements | BRAIN & DEVELOPMENT | Date of publication | 2018-5 |
| Co-researcher | |||
| Article | Spectrum of mnx1 pathogenic variants and associated clinical features in korean patients with currarino syndrome. | ||
|---|---|---|---|
| Announcements | ANNALS OF LABORATORY MEDICINE | Date of publication | 2018-5 |
| Co-researcher | |||
| Article | Reclassification of brca1 and brca2 variants of uncertain significance: a multifactorial analysis of multicentre prospective cohort. | ||
|---|---|---|---|
| Announcements | JOURNAL OF MEDICAL GENETICS | Date of publication | 2018-2 |
| Co-researcher | |||
| Article | Patients diagnosed with long qt syndrome after repair of congenital heart disease. | ||
|---|---|---|---|
| Announcements | PACE-PACING AND CLINICAL ELECTROPHYSIOLOGY | Date of publication | 2018-1 |
| Co-researcher | |||
| Article | Application of multigene panel sequencing in patients with prolonged rate-corrected qt interval and no pathogenic variants detected in kcnq1, kcnh2, and scn5a. | ||
|---|---|---|---|
| Announcements | ANNALS OF LABORATORY MEDICINE | Date of publication | 2018-1 |
| Co-researcher | |||
| Article | COQ6 mutations in children with steroid-resistant focal segmental glomerulosclerosis and sensorineural hearing loss | ||
|---|---|---|---|
| Announcements | AMERICAN JOURNAL OF KIDNEY DISEASES | Date of publication | 2017-1 |
| Co-researcher | |||
| Pubmed URL | https://www.ncbi.nlm.nih.gov/pubmed/28117207/ | ||
| Article | Novel MT-ND5 gene mutation identified in Leber's hereditary optic neuropathy patient using mitochondrial genome sequencing | ||
|---|---|---|---|
| Announcements | JOURNAL OF THE NEUROLOGICAL SCIENCES | Date of publication | 2017-1 |
| Co-researcher | |||
| Pubmed URL | https://www.ncbi.nlm.nih.gov/pubmed/28320155/ | ||
| Article | Implication of Species Change of Nontuberculous Mycobacteria During or After Treatment | ||
|---|---|---|---|
| Announcements | BMC PULMONARY MEDICINE | Date of publication | 2017-1 |
| Co-researcher | |||
| Pubmed URL | https://www.ncbi.nlm.nih.gov/pubmed/29262802/ | ||
| Article | A Unique Mutational Spectrum of MLC1 in Korean Patients With Megalencephalic Leukoencephalopathy With Subcortical Cysts: pA1a275Asp Founder Mutation and Maternal Uniparental Disomy of Chromosome 22 | ||
|---|---|---|---|
| Announcements | ANNALS OF LABORATORY MEDICINE | Date of publication | 2017-1 |
| Co-researcher | |||
| Pubmed URL | https://www.ncbi.nlm.nih.gov/pubmed/28840990/ | ||
| Article | Diverse Phenotypic Expression of Cardiomyopathies in a Family with TNNI3 pArg145Trp Mutation | ||
|---|---|---|---|
| Announcements | KOREAN CIRCULATION JOURNAL | Date of publication | 2017-1 |
| Co-researcher | |||
| Pubmed URL | https://www.ncbi.nlm.nih.gov/pubmed/28382084/ | ||
| Article | MtDNA m3472T > C could be classified as a primary mutation of Leber's hereditary optic neuropathy | ||
|---|---|---|---|
| Announcements | JOURNAL OF THE NEUROLOGICAL SCIENCES | Date of publication | 2017-1 |
| Co-researcher | |||
| Pubmed URL | https://www.ncbi.nlm.nih.gov/pubmed/28870561/ | ||
| Article | Clinical and Molecular Delineation of a Novel Cys1050Phe Missense Mutation in the ABCC9 Gene in a Korean Patient with Canto Syndrome | ||
|---|---|---|---|
| Announcements | CLINICAL LABORATORY | Date of publication | 2017-1 |
| Co-researcher | |||
| Pubmed URL | https://www.ncbi.nlm.nih.gov/pubmed/28627835/ | ||
| Article | Evaluation of a Real-Time Reverse Transcription-PCR (RT-PCR) Assay for Detection of Middle East Respiratory Syndrome Coronavirus (MERS-CoV) in Clinical Samples from an Outbreak in South Korea in 2015 | ||
|---|---|---|---|
| Announcements | JOURNAL OF CLINICAL MICROBIOLOGY | Date of publication | 2017-1 |
| Co-researcher | |||
| Pubmed URL | https://www.ncbi.nlm.nih.gov/pubmed/28566313/ | ||
| Article | Cardiomyopathies with Mixed and Inapparent Morphological Features in Cardiac Troponin I3 Mutation | ||
|---|---|---|---|
| Announcements | KOREAN CIRCULATION JOURNAL | Date of publication | 2017-1 |
| Co-researcher | |||
| Pubmed URL | https://www.ncbi.nlm.nih.gov/pubmed/28567093/ | ||
| Article | Hb variants in Korea: effect on HbA(1c) using five routine methods | ||
|---|---|---|---|
| Announcements | CLINICAL CHEMISTRY AND LABORATORY MEDICINE | Date of publication | 2017-1 |
| Co-researcher | |||
| Pubmed URL | https://www.ncbi.nlm.nih.gov/pubmed/28107170/ | ||
| Article | Consecutive analysis of mutation spectrum in the dystrophin gene of 507 Korean boys with Duchenne/Becker muscular dystrophy in a single center | ||
|---|---|---|---|
| Announcements | MUSCLE & NERVE | Date of publication | 2017-1 |
| Co-researcher | |||
| Pubmed URL | https://www.ncbi.nlm.nih.gov/pubmed/27593222/ | ||
| Article | Author reply: "MtDNA m3472T>C could be classified as a primary mutation of Leber's hereditary optic neuropathy | ||
|---|---|---|---|
| Announcements | JOURNAL OF THE NEUROLOGICAL SCIENCES | Date of publication | 2017-1 |
| Co-researcher | |||
| Pubmed URL | https://www.ncbi.nlm.nih.gov/pubmed/28992946/ | ||
| Article | Pharmacokinetics and Tolerance of the Phage Endolysin-Based Candidate Drug SAL200 after a Single Intravenous Administration among Healthy Volunteers | ||
|---|---|---|---|
| Announcements | ANTIMICROBIAL AGENTS AND CHEMOTHERAPY | Date of publication | 2017-1 |
| Co-researcher | |||
| Pubmed URL | https://www.ncbi.nlm.nih.gov/pubmed/28348152/ | ||