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Prevalence and molecular basis of null blood group phenotypes in the Korean population: Analysis using a public database

Transfusion (Philadelphia, Pa.), 2024-01, Vol.64 (1), p.19-23

2024

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Genetic and clinical characteristics of PROM1-related retinal degeneration in Korean

Scientific reports, 2023-12, Vol.13 (1), p.21877-21877, Article 21877

2023

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An Updated Comprehensive Review on Vitamin A and Carotenoids in Breast Cancer: Mechanisms, Genetics, Assessment, Current Evidence, and Future Clinical Implications

Nutrients, 2021-09, Vol.13 (9), p.3162

2021

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The novel missense variant c.350G>T on the ABOB.01 allele associated with a Bel phenotype

Transfusion (Philadelphia, Pa.), 2020-10, Vol.60 (10), p.E36-E37

2020

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Refractory ascites induced by mycophenolate in a pediatric kidney transplant patient

Clinical nephrology, 2021-04, Vol.95 (4), p.215-220

2021

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Carrier frequency of Wilson's disease in the Korean population: a DNA-based approach

Journal of human genetics, 2017-09, Vol.62 (9), p.815-818

2017

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Overcoming challenges associated with identifying FBN1 deep intronic variants through whole‐genome sequencing

Journal of clinical laboratory analysis, 2024-01, Vol.38 (1-2), p.e25009-n/a

2024

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Optimization of extraction-free protocols for SARS-CoV-2 detection using a commercial rRT-PCR assay

Scientific reports, 2023-11, Vol.13 (1), p.20364-20364, Article 20364

2023

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Experience of reassessing FBN1 variants of uncertain significance by gene-specific guidelines

Journal of medical genetics, 2024-01, Vol.61 (1), p.57-60

2024

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Evaluation of the Kaira COVID-19/Flu/RSV Detection Kit for detection of SARS-CoV-2, influenza A/B, and respiratory syncytial virus: A comparative study with the PowerChek SARS-CoV-2, influenza A&B, RSV Multiplex Real-time PCR Kit

PloS one, 2022-12, Vol.17 (12), p.e0278530-e0278530

2022

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Performance Evaluation of SpliceAI for the Prediction of Splicing of NF1 Variants

Genes, 2021-08, Vol.12 (9), p.1308

2021

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Genome-wide copy number alteration and VEGFA amplification of circulating cell-free DNA as a biomarker in advanced hepatocellular carcinoma patients treated with Sorafenib

BMC cancer, 2019-04, Vol.19 (1), p.292-292, Article 292

2019

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Short tandem repeat expansions in cortical layer‐specific genes implicate in phenotypic severity and adaptability of autism spectrum disorder

Psychiatry and clinical neurosciences, 2024-07, Vol.78 (7), p.405-415

2024

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Variation spectrum of MECP2 in Korean patients with Rett and Rett-like syndrome: a literature review and reevaluation of variants based on the ClinGen guideline

Journal of human genetics, 2022-10, Vol.67 (10), p.601-606

2022

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Clinical feature, GALC variant spectrum, and genotype–phenotype correlation in Korean Krabbe disease patients: Multicenter experience over 13 years

Clinical genetics, 2024-08, Vol.106 (2), p.150-160

2024

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High diagnostic yield of clinically unidentifiable syndromic growth disorders by targeted exome sequencing

Clinical genetics, 2017-12, Vol.92 (6), p.594-605

2017

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Reclassification of variants of tumor suppressor genes based on Sanger RNA sequencing without NMD inhibition

Frontiers in genetics, 2023-10, Vol.14, p.1283611-1283611

2023

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Identification of two novel COL3A1 variants in patients with vascular Ehlers-Danlos syndrome

Molecular genetics & genomic medicine, 2023-09, Vol.11 (9), p.e2240-n/a

2023

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Targeted Gene Panel Sequencing for Molecular Diagnosis of Kallmann Syndrome and Normosmic Idiopathic Hypogonadotropic Hypogonadism

Experimental and clinical endocrinology & diabetes, 2019-09, Vol.127 (8), p.538-544

2019

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Characteristic dysmorphic features in congenital disorders of glycosylation type IIb

Journal of human genetics, 2018-03, Vol.63 (3), p.383-386

2018

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A novel splicing variant in GALNS in mucopolysaccharidosis IVA and the necessity of re‐evaluating primer sequences

Annals of human genetics, 2022-11, Vol.86 (6), p.361-368

2022

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A case of inherited type 1 and type 2A von Willebrand disease confirmed by diagnostic exome sequencing

Pediatric blood & cancer, 2018-10, Vol.65 (10), p.e27279-n/a

2018

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Evaluation of the AdvanSure One-Stop COVID-19 Plus Kit for SARS-CoV-2 Detection Using a Streamlined RNA Extraction Method

Annals of Laboratory Medicine, 2023, 43(5), , pp.508-511

2023

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A new phenotype of MT-ND6 gene mutation for Leber’s hereditary optic neuropathy

Neurological sciences, 2021-10, Vol.42 (10), p.4367-4371

2021

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Clinically significant maternal X chromosomal copy number variation detected by noninvasive prenatal test

The journal of obstetrics and gynaecology research, 2019-09, Vol.45 (9), p.1925-1928

2019

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Prevalence and molecular basis of null blood group phenotypes in the Korean population: Analysis using a public database

Genetic and clinical characteristics of PROM1-related retinal degeneration in Korean

An Updated Comprehensive Review on Vitamin A and Carotenoids in Breast Cancer: Mechanisms, Genetics, Assessment, Current Evidence, and Future Clinical Implications

The novel missense variant c.350G>T on the ABOB.01 allele associated with a Bel phenotype

Refractory ascites induced by mycophenolate in a pediatric kidney transplant patient

Carrier frequency of Wilson's disease in the Korean population: a DNA-based approach

Overcoming challenges associated with identifying FBN1 deep intronic variants through whole‐genome sequencing

Optimization of extraction-free protocols for SARS-CoV-2 detection using a commercial rRT-PCR assay

Experience of reassessing FBN1 variants of uncertain significance by gene-specific guidelines

Evaluation of the Kaira COVID-19/Flu/RSV Detection Kit for detection of SARS-CoV-2, influenza A/B, and respiratory syncytial virus: A comparative study with the PowerChek SARS-CoV-2, influenza A&B, RSV Multiplex Real-time PCR Kit

Performance Evaluation of SpliceAI for the Prediction of Splicing of NF1 Variants

Genome-wide copy number alteration and VEGFA amplification of circulating cell-free DNA as a biomarker in advanced hepatocellular carcinoma patients treated with Sorafenib

Short tandem repeat expansions in cortical layer‐specific genes implicate in phenotypic severity and adaptability of autism spectrum disorder

Variation spectrum of MECP2 in Korean patients with Rett and Rett-like syndrome: a literature review and reevaluation of variants based on the ClinGen guideline

Clinical feature, GALC variant spectrum, and genotype–phenotype correlation in Korean Krabbe disease patients: Multicenter experience over 13 years

High diagnostic yield of clinically unidentifiable syndromic growth disorders by targeted exome sequencing

Reclassification of variants of tumor suppressor genes based on Sanger RNA sequencing without NMD inhibition

Identification of two novel COL3A1 variants in patients with vascular Ehlers-Danlos syndrome

Targeted Gene Panel Sequencing for Molecular Diagnosis of Kallmann Syndrome and Normosmic Idiopathic Hypogonadotropic Hypogonadism

Characteristic dysmorphic features in congenital disorders of glycosylation type IIb

A novel splicing variant in GALNS in mucopolysaccharidosis IVA and the necessity of re‐evaluating primer sequences

A case of inherited type 1 and type 2A von Willebrand disease confirmed by diagnostic exome sequencing

Evaluation of the AdvanSure One-Stop COVID-19 Plus Kit for SARS-CoV-2 Detection Using a Streamlined RNA Extraction Method

A new phenotype of MT-ND6 gene mutation for Leber’s hereditary optic neuropathy

Clinically significant maternal X chromosomal copy number variation detected by noninvasive prenatal test

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