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Chung Lee

Samsung Medical Center
Sungkyunkwan University

38

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387

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Novel KCNQ4 variants in different functional domains confer genotype- and mechanism-based therapeutics in patients with nonsyndromic hearing loss

2021 Experimental and Molecular Medicine
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Genomic Analysis of Korean Patient With Microcephaly

2021 Frontiers in Genetics
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The role of PDGFRA as a therapeutic target in young colorectal cancer patients.

2021 Journal of Translational Medicine
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Targeted Exome Sequencing Provided Comprehensive Genetic Diagnosis of Congenital Anomalies of the Kidney and Urinary Tract.

2020 Journal of Clinical Medicine
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Genetic Diagnosis of Dravet Syndrome Using Next Generation Sequencing-Based Epilepsy Gene Panel Testing.

2020 Annals of Clinical and Laboratory Science
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Comprehensive analysis of mutations of renal cell carcinoma in an autosomal dominant polycystic kidney disease patient.

2020 Medicine
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Determining the best candidates for next-generation sequencing-based gene panel for evaluation of early-onset epilepsy.

2020 Molecular Genetics & Genomic Medicine
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POLD1 variants leading to reduced polymerase activity can cause hearing loss without syndromic features

2020 Human Mutation
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Genetic variants of PARK genes in Korean patients with early-onset Parkinson's disease

2019 Neurobiology of Aging
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Performance evaluation of commercial library construction kits for PCR-based targeted sequencing using a unique molecular identifier

2019 BMC Genomics
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