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Implementing Massive Parallel Sequencing into Biliary Samples Obtained through Endoscopic Retrograde Cholangiopancreatography for Diagnosing Malignant Bile Duct Strictures

International journal of molecular sciences, 2024-08, Vol.25 (17), p.9461

2024

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The Aggravation of Neuropsychiatric Symptoms in the Offspring of a Korean Family with Intellectual Disability and Developmental Delay Caused by a Novel ARX p.Lys385Ter Variant

International journal of molecular sciences, 2024-10, Vol.25 (19), p.10327

2024

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A Korean Family Presenting with Renal Cysts and Maturity-Onset Diabetes of the Young Caused by a Novel In-Frame Deletion of HNF1B

International journal of molecular sciences, 2024-09, Vol.25 (18), p.9823

2024

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Seizure duration may increase thyroid-stimulating hormone levels in children experiencing a seizure

Journal of international medical research, 2020-05, Vol.48 (5), p.300060519888401-300060519888401

2020

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Novel FLG null mutations in Korean patients with atopic dermatitis and comparison of the mutational spectra in Asian populations

Journal of dermatology, 2015-09, Vol.42 (9), p.867-873

2015

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Cytokine clusters as potential diagnostic markers of disease activity and renal involvement in systemic lupus erythematosus

Journal of international medical research, 2020-06, Vol.48 (6), p.300060520926882-300060520926882

2020

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CDKN2B downregulation and other genetic characteristics in T-acute lymphoblastic leukemia

Experimental and Molecular Medicine, 2019, 51(0), , pp.1-15

2019

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Differing disease phenotypes of Duchenne muscular dystrophy and Moyamoya disease in female siblings of a Korean family

Molecular genetics & genomic medicine, 2019-09, Vol.7 (9), p.e862-n/a

2019

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Identification of large genomic rearrangement of BRCA1/2 in high risk patients in Korea

BMC medical genetics, 2017-03, Vol.18 (1), p.38-38, Article 38

2017

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Molecular analysis of myocilin and optineurin genes in Korean primary glaucoma patients

Molecular medicine reports, 2016-09, Vol.14 (3), p.2439-2448

2016

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Chromosome abnormalities in T-cell acute lymphoblastic leukemia in Korea

International journal of hematology, 2014-03, Vol.99 (3), p.279-287

2014

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Two cases of concurrent development of essential thrombocythemia with chronic lymphocytic leukemia, one related to clonal B-cell lymphocytosis, tested by array comparative genomic hybridization

International journal of hematology, 2015-06, Vol.101 (6), p.612-619

2015

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Paternally Inherited Noonan Syndrome Caused by a PTPN11 Variant May Exhibit Mild Symptoms: A Case Report and Literature Review

Genes, 2024-03, Vol.15 (4), p.445

2024

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A Recurrent De Novo Terminal Duplication of 14q32 in Korean Siblings Associated with Developmental Delay and Intellectual Disability, Growth Retardation, Facial Dysmorphism, and Cerebral Infarction: A Case Report and Literature Review

Genes, 2021-09, Vol.12 (9), p.1388

2021

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Variable Phenotypes of Epilepsy, Intellectual Disability, and Schizophrenia Caused by 12p13.33-p13.32 Terminal Microdeletion in a Korean Family: A Case Report and Literature Review

Genes, 2021-06, Vol.12 (7), p.1001

2021

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Targeted next-generation sequencing identifies a novel nonsense mutation in SPTB for hereditary spherocytosis: A case report of a Korean family

Medicine (Baltimore), 2018-01, Vol.97 (3), p.e9677-e9677

2018

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Diagnostic approach with genetic tests for global developmental delay and/or intellectual disability: Single tertiary center experience

Annals of human genetics, 2019-05, Vol.83 (3), p.115-123

2019

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A novel EPB41 p.Trp704 mutation in a Korean patient with hereditary elliptocytosis: a case report

Hematology (Luxembourg), 2020-12, Vol.25 (1), p.321-326

2020

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Identification of a novel de novo nonsense mutation of the NSD1 gene in monozygotic twins discordant for Sotos syndrome

Clinica chimica acta, 2017-07, Vol.470, p.31-35

2017

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Distribution of somatic mutations of cancer-related genes according to microsatellite instability status in Korean gastric cancer

Medicine (Baltimore), 2017-06, Vol.96 (25), p.e7224-e7224

2017

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Chromosomal Microarray Analysis as a First-Tier Clinical Diagnostic Test in Patients With Developmental Delay/Intellectual Disability, Autism Spectrum Disorders, and Multiple Congenital Anomalies: A Prospective Multicenter Study in Korea

Annals of Laboratory Medicine, 2019, 39(3), , pp.299-310

2019

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Diagnostic exome sequencing identifies a heterozygous MBD5 frameshift mutation in a family with intellectual disability and epilepsy

European journal of medical genetics, 2017-10, Vol.60 (10), p.559-564

2017

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Peptide nucleic acid probe-based fluorescence melting curve analysis for rapid screening of common JAK2, MPL, and CALR mutations

Clinica chimica acta, 2017-02, Vol.465, p.82-90

2017

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Considerations when using next-generation sequencing for genetic diagnosis of long-QT syndrome in the clinical testing laboratory

Clinica chimica acta, 2017-01, Vol.464, p.128-135

2017

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Combined Group I and III ABO Discrepancies in Multiple Myeloma with IgG-Lambda Type: A Case Report

Medical principles and practice, 2017-01, Vol.26 (1), p.90-92

2017

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Implementing Massive Parallel Sequencing into Biliary Samples Obtained through Endoscopic Retrograde Cholangiopancreatography for Diagnosing Malignant Bile Duct Strictures

The Aggravation of Neuropsychiatric Symptoms in the Offspring of a Korean Family with Intellectual Disability and Developmental Delay Caused by a Novel ARX p.Lys385Ter Variant

A Korean Family Presenting with Renal Cysts and Maturity-Onset Diabetes of the Young Caused by a Novel In-Frame Deletion of HNF1B

Seizure duration may increase thyroid-stimulating hormone levels in children experiencing a seizure

Novel FLG null mutations in Korean patients with atopic dermatitis and comparison of the mutational spectra in Asian populations

Cytokine clusters as potential diagnostic markers of disease activity and renal involvement in systemic lupus erythematosus

CDKN2B downregulation and other genetic characteristics in T-acute lymphoblastic leukemia

Differing disease phenotypes of Duchenne muscular dystrophy and Moyamoya disease in female siblings of a Korean family

Identification of large genomic rearrangement of BRCA1/2 in high risk patients in Korea

Molecular analysis of myocilin and optineurin genes in Korean primary glaucoma patients

Chromosome abnormalities in T-cell acute lymphoblastic leukemia in Korea

Two cases of concurrent development of essential thrombocythemia with chronic lymphocytic leukemia, one related to clonal B-cell lymphocytosis, tested by array comparative genomic hybridization

Paternally Inherited Noonan Syndrome Caused by a PTPN11 Variant May Exhibit Mild Symptoms: A Case Report and Literature Review

A Recurrent De Novo Terminal Duplication of 14q32 in Korean Siblings Associated with Developmental Delay and Intellectual Disability, Growth Retardation, Facial Dysmorphism, and Cerebral Infarction: A Case Report and Literature Review

Variable Phenotypes of Epilepsy, Intellectual Disability, and Schizophrenia Caused by 12p13.33-p13.32 Terminal Microdeletion in a Korean Family: A Case Report and Literature Review

Targeted next-generation sequencing identifies a novel nonsense mutation in SPTB for hereditary spherocytosis: A case report of a Korean family

Diagnostic approach with genetic tests for global developmental delay and/or intellectual disability: Single tertiary center experience

A novel EPB41 p.Trp704 mutation in a Korean patient with hereditary elliptocytosis: a case report

Identification of a novel de novo nonsense mutation of the NSD1 gene in monozygotic twins discordant for Sotos syndrome

Distribution of somatic mutations of cancer-related genes according to microsatellite instability status in Korean gastric cancer

Chromosomal Microarray Analysis as a First-Tier Clinical Diagnostic Test in Patients With Developmental Delay/Intellectual Disability, Autism Spectrum Disorders, and Multiple Congenital Anomalies: A Prospective Multicenter Study in Korea

Diagnostic exome sequencing identifies a heterozygous MBD5 frameshift mutation in a family with intellectual disability and epilepsy

Peptide nucleic acid probe-based fluorescence melting curve analysis for rapid screening of common JAK2, MPL, and CALR mutations

Considerations when using next-generation sequencing for genetic diagnosis of long-QT syndrome in the clinical testing laboratory

Combined Group I and III ABO Discrepancies in Multiple Myeloma with IgG-Lambda Type: A Case Report

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