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Machine Learning–Based Model for Prediction of Outcomes in Acute Stroke

Stroke (1970), 2019-05, Vol.50 (5), p.1263-1265

2019

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Molecular Characterization of Biliary Tract Cancer Predicts Chemotherapy and Programmed Death 1/Programmed Death‐Ligand 1 Blockade Responses

Hepatology (Baltimore, Md.), 2021-10, Vol.74 (4), p.1914-1931

2021

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Diagnostic uplift through the implementation of short tandem repeat analysis using exome sequencing

European journal of human genetics : EJHG, 2024-05, Vol.32 (5), p.584-587

2024

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Molecular Diagnosis of Craniosynostosis Using Targeted Next-Generation Sequencing

Neurosurgery, 2020-08, Vol.87 (2), p.294-302

2020

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Prevalence and founder effect of DRC1 exon 1-4 deletion in Korean patients with primary ciliary dyskinesia

Journal of human genetics, 2023-06, Vol.68 (6), p.369-374

2023

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Synergistic toxicity with copper contributes to NAT2-associated isoniazid toxicity

Experimental and Molecular Medicine, 2024, 56(0), , pp.570-582

2024

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Machine learning-based diagnosis for disseminated intravascular coagulation (DIC): Development, external validation, and comparison to scoring systems

PloS one, 2018-05, Vol.13 (5), p.e0195861-e0195861

2018

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Syndromic craniosynostosis caused by a novel missense variant in MAP4K4: Expanding the genotype–phenotype relationship in RASopathies

Clinical genetics, 2024-08, Vol.106 (2), p.199-203

2024

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De Novo SPTAN1 Lys2083del Variant in a Korean Patient with Pure Cerebellar Ataxia

Movement disorders, 2023-02, Vol.38 (2), p.354-355

2023

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Multi‐locus pathogenic variation identified in a patient with craniosynostosis

American journal of medical genetics. Part A, 2024-05, Vol.194 (5), p.e63521-n/a

2024

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De novo missense variants in HDAC3 leading to epigenetic machinery dysfunction are associated with a variable neurodevelopmental disorder

American journal of human genetics, 2024-08, Vol.111 (8), p.1588-1604

2024

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Late-Onset Ataxia-Telangiectasia Presenting With Dystonia and Tremor: The Use of Nanopore Long-Read Sequencing Solving the Variant Phase

Neurology. Genetics, 2024-04, Vol.10 (2), p.e200141-e200141

2024

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Expanding association between BICD2 variants and brain malformations and associated lissencephaly

Clinical and experimental pediatrics, 2024-01, Vol.67 (1), p.54-56

2024

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Unraveling the Genomic Architecture of the CYP3A Locus and ADME Genes for Personalized Tacrolimus Dosing

Transplantation, 2021-10, Vol.105 (10), p.2213-2225

2021

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Epilepsy phenotype and gene ontology analysis of the 129 genes in a large neurodevelopmental disorders cohort

Frontiers in neurology, 2023-08, Vol.14, p.1218706-1218706

2023

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First Cases of Spinocerebellar Ataxia 42 in Two Korean Families

Journal Of Movement Disorders, 2023, 16(1), , pp.110-113

2023

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A pilot study to investigate the utility of NAT2 genotype-guided isoniazid monotherapy regimens in NAT2 slow acetylators

Pharmacogenetics and genomics, 2021-04, Vol.31 (3), p.68-73

2021

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The First Korean Case of VEXAS Syndrome Caused by a UBA1 Somatic Variant

Annals of laboratory medicine, 2023-03, Vol.43 (2), p.217-220

2023

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The extended clinical and genetic spectrum of CTNNB1-related neurodevelopmental disorder

Frontiers in pediatrics, 2022-07, Vol.10, p.960450-960450

2022

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Comparison of Six Automated Treponema-Specific Antibody Assays

Journal of clinical microbiology, 2016-01, Vol.54 (1), p.163-167

2016

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Systematic analysis of inheritance pattern determination in genes that cause rare neurodevelopmental diseases

Frontiers in genetics, 2022-09, Vol.13, p.990015-990015

2022

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Magnetic bead-based nucleic acid purification kit: Clinical application and performance evaluation in stool specimens

Journal of microbiological methods, 2016-05, Vol.124, p.62-68

2016

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Expansion of clinico-genetic spectrum of PRDX3 disease: a literature review with two additional cases

Brain communications, 2023-08, Vol.5 (5), p.fcad233-fcad233

2023

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Broadening the scope of multigene panel analysis for adult epilepsy patients

Epilepsia open, 2024-08, Vol.9 (4), p.1538-1549

2024

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Regulation of CFTR Bicarbonate Channel Activity by WNK1: Implications for Pancreatitis and CFTR-Related Disorders

Cellular and molecular gastroenterology and hepatology, 2020-01, Vol.9 (1), p.79-103

2020

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Machine Learning–Based Model for Prediction of Outcomes in Acute Stroke

Molecular Characterization of Biliary Tract Cancer Predicts Chemotherapy and Programmed Death 1/Programmed Death‐Ligand 1 Blockade Responses

Diagnostic uplift through the implementation of short tandem repeat analysis using exome sequencing

Molecular Diagnosis of Craniosynostosis Using Targeted Next-Generation Sequencing

Prevalence and founder effect of DRC1 exon 1-4 deletion in Korean patients with primary ciliary dyskinesia

Synergistic toxicity with copper contributes to NAT2-associated isoniazid toxicity

Machine learning-based diagnosis for disseminated intravascular coagulation (DIC): Development, external validation, and comparison to scoring systems

Syndromic craniosynostosis caused by a novel missense variant in MAP4K4: Expanding the genotype–phenotype relationship in RASopathies

De Novo SPTAN1 Lys2083del Variant in a Korean Patient with Pure Cerebellar Ataxia

Multi‐locus pathogenic variation identified in a patient with craniosynostosis

De novo missense variants in HDAC3 leading to epigenetic machinery dysfunction are associated with a variable neurodevelopmental disorder

Late-Onset Ataxia-Telangiectasia Presenting With Dystonia and Tremor: The Use of Nanopore Long-Read Sequencing Solving the Variant Phase

Expanding association between BICD2 variants and brain malformations and associated lissencephaly

Unraveling the Genomic Architecture of the CYP3A Locus and ADME Genes for Personalized Tacrolimus Dosing

Epilepsy phenotype and gene ontology analysis of the 129 genes in a large neurodevelopmental disorders cohort

First Cases of Spinocerebellar Ataxia 42 in Two Korean Families

A pilot study to investigate the utility of NAT2 genotype-guided isoniazid monotherapy regimens in NAT2 slow acetylators

The First Korean Case of VEXAS Syndrome Caused by a UBA1 Somatic Variant

The extended clinical and genetic spectrum of CTNNB1-related neurodevelopmental disorder

Comparison of Six Automated Treponema-Specific Antibody Assays

Systematic analysis of inheritance pattern determination in genes that cause rare neurodevelopmental diseases

Magnetic bead-based nucleic acid purification kit: Clinical application and performance evaluation in stool specimens

Expansion of clinico-genetic spectrum of PRDX3 disease: a literature review with two additional cases

Broadening the scope of multigene panel analysis for adult epilepsy patients

Regulation of CFTR Bicarbonate Channel Activity by WNK1: Implications for Pancreatitis and CFTR-Related Disorders

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