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A case of inherited type 1 and type 2A von Willebrand disease confirmed by diagnostic exome sequencing.
- Published in:
- 2018
- By:
- Publication type:
- journal article
A new phenotype of MT-ND6 gene mutation for Leber's hereditary optic neuropathy.
- Published in:
- 2021
- By:
- Publication type:
- Letter
Genetic Analysis Using a Next Generation Sequencing-Based Gene Panel in Patients With Skeletal Dysplasia: A Single-Center Experience.
- Published in:
- Frontiers in Genetics, 2021, v. 11, p. 1, doi. 10.3389/fgene.2021.670608
- By:
- Publication type:
- Article
High diagnostic yield of clinically unidentifiable syndromic growth disorders by targeted exome sequencing.
- Published in:
- Clinical Genetics, 2017, v. 92, n. 6, p. 594, doi. 10.1111/cge.13038
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- Publication type:
- Article
Clinically significant maternal X chromosomal copy number variation detected by noninvasive prenatal test.
- Published in:
- Journal of Obstetrics & Gynaecology Research, 2019, v. 45, n. 9, p. 1925, doi. 10.1111/jog.14033
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- Publication type:
- Article
Clinicopathologic characteristics of double primary endometrial and colorectal cancers in a single institution.
- Published in:
- Journal of Obstetrics & Gynaecology Research, 2018, v. 44, n. 5, p. 944, doi. 10.1111/jog.13603
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- Publication type:
- Article
Identification of two novel COL3A1 variants in patients with vascular Ehlers‐Danlos syndrome.
- Published in:
- 2023
- By:
- Publication type:
- Case Study
Prenatal diagnosis of combined methylmalonic acidemia and homocystinuria cobalamin C type using clinical exome sequencing and targeted gene analysis.
- Published in:
- Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 11, p. 1, doi. 10.1002/mgg3.1838
- By:
- Publication type:
- Article
Clinical Practice Guideline for Blood-based Circulating Tumor DNA Assays.
- Published in:
- Annals of Laboratory Medicine, 2024, v. 44, n. 3, p. 195, doi. 10.3343/alm.2023.0389
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- Publication type:
- Article
Evaluation of the AdvanSure One-Stop COVID-19 Plus Kit for SARS-CoV-2 Detection Using a Streamlined RNA Extraction Method.
- Published in:
- Annals of Laboratory Medicine, 2023, v. 43, n. 5, p. 508, doi. 10.3343/alm.2023.43.5.508
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- Publication type:
- Article
Performance Evaluation of the PowerChek SARSCoV-2, Influenza A & B Multiplex Real-Time PCR Kit in Comparison with the BioFire Respiratory Panels.
- Published in:
- Annals of Laboratory Medicine, 2022, v. 42, n. 4, p. 473, doi. 10.3343/alm.2022.42.4.473
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- Publication type:
- Article
Genetic Counseling and Long-Term Surveillance Using a Multidisciplinary Approach in von Hippel–Lindau Disease.
- Published in:
- Annals of Laboratory Medicine, 2022, v. 42, n. 3, p. 352, doi. 10.3343/alm.2022.42.3.352
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- Publication type:
- Article
Detection Methods and Status of CAT Interruption of ATXN1 in Korean Patients With Spinocerebellar Ataxia Type 1.
- Published in:
- Annals of Laboratory Medicine, 2022, v. 42, n. 2, p. 274, doi. 10.3343/alm.2022.42.2.274
- By:
- Publication type:
- Article
Novel Mutation (c.8725T>C) in Two Siblings With Late-Onset LAMA2-Related Muscular Dystrophy.
- Published in:
- Annals of Laboratory Medicine, 2017, v. 37, n. 4, p. 359, doi. 10.3343/alm.2017.37.4.359
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- Publication type:
- Article
Spectra of BRCA1 and BRCA2 mutations in Korean patients with breast cancer: the importance of whole-gene sequencing.
- Published in:
- Journal of Human Genetics, 2012, v. 57, n. 3, p. 222, doi. 10.1038/jhg.2012.13
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- Publication type:
- Article
Spectra of BRCA1 and BRCA2 mutations in Korean patients with breast cancer: the importance of whole-gene sequencing.
- Published in:
- Journal of Human Genetics, 2012, v. 57, n. 3, p. 212, doi. 10.1038/jhg.2011.139
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- Publication type:
- Article
Familial Xp22.33-Xp22.12 deletion delineated by chromosomal microarray analysis causes proportionate short stature.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 6, p. 1462, doi. 10.1002/ajmg.a.35357
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- Publication type:
- Article
Correlation Between Vanishing White Matter Disease and Novel Heterozygous EIF2B3 Variants Using Next-Generation Sequencing: A Case Report.
- Published in:
- Annals of Rehabilitation Medicine, 2019, v. 43, n. 2, p. 234, doi. 10.5535/arm.2019.43.2.234
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- Publication type:
- Article
Identification of a Heterozygous SPG11 Mutation by Clinical Exome Sequencing in a Patient With Hereditary Spastic Paraplegia: A Case Report.
- Published in:
- 2016
- By:
- Publication type:
- Case Study
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.
- Published in:
- Frontiers in Neurology, 2022, v. 13, p. 1, doi. 10.3389/fneur.2022.836954
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- Publication type:
- Article
Clinical and genetic analyses of patients with lateralized overgrowth.
- Published in:
- BMC Medical Genomics, 2022, v. 15, n. 1, p. 1, doi. 10.1186/s12920-022-01362-1
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- Publication type:
- Article
Hereditary gene mutations in Korean patients with isolated erythrocytosis.
- Published in:
- Annals of Hematology, 2014, v. 93, n. 6, p. 931, doi. 10.1007/s00277-014-2006-3
- By:
- Publication type:
- Article
Clinical Utility of Plasma Cell-Free DNA EGFR Mutation Analysis in Treatment-Naïve Stage IV Non-Small Cell Lung Cancer Patients.
- Published in:
- Journal of Clinical Medicine, 2022, v. 11, n. 4, p. N.PAG, doi. 10.3390/jcm11041144
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- Publication type:
- Article
Identification of diagnostic challenges in RP1 Alu insertion and strategies for overcoming them.
- Published in:
- Scientific Reports, 2024, v. 14, n. 1, p. 1, doi. 10.1038/s41598-024-76509-4
- By:
- Publication type:
- Article
Communication: Evaluation of the Humasis COVID-19 Antigen Rapid Diagnostic Test for the Diagnosis of SARS-CoV-2 Infection.
- Published in:
- Annals of Clinical & Laboratory Science, 2024, v. 54, n. 1, p. 126
- By:
- Publication type:
- Article
The First Korean Case of Baraitser-Winter Cerebro-Fronto-Facial Syndrome with a Novel Mutation in ACTB Diagnosed Via Targeted Gene Panel Sequencing and Literature Review.
- Published in:
- Annals of Clinical & Laboratory Science, 2020, v. 50, n. 6, p. 818
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- Publication type:
- Article
The First Korean Family with Aarskog-Scott Syndrome Harboring a Novel Mutation in FGD1 Diagnosed via Targeted Gene Panel Sequencing.
- Published in:
- Annals of Clinical & Laboratory Science, 2020, v. 50, n. 5, p. 691
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- Publication type:
- Article
Oculodentodigital Dysplasia with a Novel Mutation in GJA1 Diagnosed by Targeted Gene Panel Sequencing: A Case Report and Literature Review.
- Published in:
- Annals of Clinical & Laboratory Science, 2018, v. 48, n. 6, p. 776
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- Publication type:
- Article
First Korean Case of Renpenning Syndrome with Novel Mutation in PQBP1 Diagnosed by Targeted Exome Sequencing, and Literature Review.
- Published in:
- Annals of Clinical & Laboratory Science, 2018, v. 48, n. 4, p. 522
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- Publication type:
- Article
A Novel Inherited Mutation of SCN8A in a Korean Family with Benign Familial Infantile Epilepsy Using Diagnostic Exome Sequencing.
- Published in:
- Annals of Clinical & Laboratory Science, 2017, v. 47, n. 6, p. 747
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- Publication type:
- Article
Identification of the KCNJ2 Mutation in a Korean Family with Andersen-Tawil Syndrome and Developmental Delay.
- Published in:
- Annals of Clinical & Laboratory Science, 2016, v. 46, n. 1, p. 110
- By:
- Publication type:
- Article
Application of Blood Group Genotyping by Next-Generation Sequencing in Various Immunohaematology Cases.
- Published in:
- Transfusion Medicine & Hemotherapy, 2022, v. 49, n. 2, p. 88, doi. 10.1159/000517565
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- Publication type:
- Article
Hereditary Sensory and Autonomic Neuropathy 2B Caused by a Novel RETREG1 Mutation (c.765dupT) and Paternal Uniparental Isodisomy of Chromosome 5.
- Published in:
- Frontiers in Genetics, 2019, v. 10, p. 1, doi. 10.3389/fgene.2019.01085
- By:
- Publication type:
- Article
Case Report of Menopausal Woman Diagnosed with Endometrial Cancer after Colon Cancer with Germline Mutation in MSH6 in Korea.
- Published in:
- 2017
- By:
- Publication type:
- Case Study
Optimal Protocols and Management of Clinical and Genomic Data Collection to Assist in the Early Diagnosis and Treatment of Multiple Congenital Anomalies.
- Published in:
- Children, 2023, v. 10, n. 10, p. 1673, doi. 10.3390/children10101673
- By:
- Publication type:
- Article
Case report: Cerebrotendinous xanthomatosis with a novel mutation in the CYP27A1 gene mimicking behavioral variant frontotemporal dementia.
- Published in:
- Frontiers in Neurology, 2023, v. 14, p. 1, doi. 10.3389/fneur.2023.1131888
- By:
- Publication type:
- Article
Prognostic Implications of Monosomies in Patients With Multiple Myeloma.
- Published in:
- 2017
- By:
- Publication type:
- journal article
Clinical feature, GALC variant spectrum, and genotype–phenotype correlation in Korean Krabbe disease patients: Multicenter experience over 13 years.
- Published in:
- Clinical Genetics, 2024, v. 106, n. 2, p. 150, doi. 10.1111/cge.14523
- By:
- Publication type:
- Article
Short tandem repeat expansions in cortical layer‐specific genes implicate in phenotypic severity and adaptability of autism spectrum disorder.
- Published in:
- Psychiatry & Clinical Neurosciences, 2024, v. 78, n. 7, p. 405, doi. 10.1111/pcn.13676
- By:
- Publication type:
- Article
A novel splicing variant in GALNS in mucopolysaccharidosis IVA and the necessity of re‐evaluating primer sequences.
- Published in:
- Annals of Human Genetics, 2022, v. 86, n. 6, p. 361, doi. 10.1111/ahg.12483
- By:
- Publication type:
- Article
Identification of a novel mutation in EXT2 in a fourth‐generation Korean family with multiple osteochondromas and overview of mutation spectrum.
- Published in:
- Annals of Human Genetics, 2019, v. 83, n. 3, p. 160, doi. 10.1111/ahg.12298
- By:
- Publication type:
- Article
Genome-wide copy number alteration and VEGFA amplification of circulating cell-free DNA as a biomarker in advanced hepatocellular carcinoma patients treated with Sorafenib.
- Published in:
- 2019
- By:
- Publication type:
- journal article
Overcoming challenges associated with identifying FBN1 deep intronic variants through whole‐genome sequencing.
- Published in:
- Journal of Clinical Laboratory Analysis, 2024, v. 38, n. 1/2, p. 1, doi. 10.1002/jcla.25009
- By:
- Publication type:
- Article
Whole-genome sequencing in clinically diagnosed Charcot-Marie-Tooth disease undiagnosed by whole-exome sequencing.
- Published in:
- Brain Communications, 2023, v. 5, n. 3, p. 1, doi. 10.1093/braincomms/fcad139
- By:
- Publication type:
- Article
Serum 5-Hydroxyindoleacetic Acid and Ratio of 5-Hydroxyindoleacetic Acid to Serotonin as Metabolomics Indicators for Acute Oxidative Stress and Inflammation in Vancomycin-Associated Acute Kidney Injury.
- Published in:
- Antioxidants, 2021, v. 10, n. 6, p. 895, doi. 10.3390/antiox10060895
- By:
- Publication type:
- Article
Usefulness of comprehensive targeted multigene panel sequencing for neuromuscular disorders in Korean patients.
- Published in:
- Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 10, p. N.PAG, doi. 10.1002/mgg3.947
- By:
- Publication type:
- Article
Two novel mutations in TTN of a patient with congenital myopathy: A case report.
- Published in:
- Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 8, p. N.PAG, doi. 10.1002/mgg3.866
- By:
- Publication type:
- Article
TRIP11-PDGFRB fusion in a patient with a therapyrelated myeloid neoplasm with t(5;14)(q33;q32) after treatment for acute promyelocytic leukemia.
- Published in:
- 2014
- By:
- Publication type:
- Case Study
Compound heterozygous variants including a novel copy number variation in a child with atypical ataxia-telangiectasia: a case report.
- Published in:
- BMC Medical Genomics, 2021, v. 14, n. 1, p. 1, doi. 10.1186/s12920-021-01053-3
- By:
- Publication type:
- Article
Prevalence and molecular basis of null blood group phenotypes in the Korean population: Analysis using a public database.
- Published in:
- Transfusion, 2024, v. 64, n. 1, p. 19, doi. 10.1111/trf.17608
- By:
- Publication type:
- Article