| 2025 | Contribution of rare coding variants to microcephaly in individuals with neurodevelopmental disorders
| GENOME MEDICINE |
| 2025 | Digenic impairments of haploinsufficient genes in patients with craniosynostosis
| JCI INSIGHT |
| 2024 | Implementing genomic medicine in clinical practice for adults with undiagnosed rare diseases
| NPJ GENOMIC MEDICINE |
| 2024 | De novo missense variants in HDAC3 leading to epigenetic machinery dysfunction are associated with a variable neurodevelopmental disorder
| AMERICAN JOURNAL OF HUMAN GENETICS |
| 2024 | Syndromic craniosynostosis caused by a novel missense variant in <i>MAP4K4</i>: Expanding the genotype-phenotype relationship in RASopathies | CLINICAL GENETICS |
| 2024 | Multi-locus pathogenic variation identified in a patient with craniosynostosis | AMERICAN JOURNAL OF MEDICAL GENETICS PART A |
| 2024 | Late-Onset Ataxia-Telangiectasia Presenting With Dystonia and Tremor: The Use of Nanopore Long-Read Sequencing Solving the Variant Phase
| NEUROLOGY-GENETICS |
| 2024 | Synergistic toxicity with copper contributes to NAT2-associated isoniazid toxicity
| EXPERIMENTAL AND MOLECULAR MEDICINE |
| 2021 | Unraveling the Genomic Architecture of the CYP3A Locus and ADME Genes for Personalized Tacrolimus Dosing | TRANSPLANTATION |
| 2021 | Molecular Characterization of Biliary Tract Cancer Predicts Chemotherapy and Programmed Death 1/Programmed Death-Ligand 1 Blockade Responses | HEPATOLOGY |
| 2021 | A pilot study to investigate the utility of NAT2 genotype-guided isoniazid monotherapy regimens in NAT2 slow acetylators | PHARMACOGENETICS AND GENOMICS |
| 2020 | Molecular Diagnosis of Craniosynostosis Using Targeted Next-Generation Sequencing | NEUROSURGERY |
| 2020 | Regulation of CFTR Bicarbonate Channel Activity by WNK1: Implications for Pancreatitis and CFTR-Related Disorders
| CELLULAR AND MOLECULAR GASTROENTEROLOGY AND HEPATOLOGY |
| 2019 | Functional Characterization of Pharmcogenetic Variants of Human Cytochrome P450 2C9 in Korean Populations
| BIOMOLECULES & THERAPEUTICS |
| 2019 | Machine Learning-Based Model for Prediction of Outcomes in Acute Stroke | STROKE |
| 2018 | Machine learning-based diagnosis for disseminated intravascular coagulation (DIC): Development, external validation, and comparison to scoring systems
| PLOS ONE |
| 2017 | Adopting automated image analysis tool for fibrin network: Can we obtain clot properties for practical application? | INTERNATIONAL JOURNAL OF LABORATORY HEMATOLOGY |
| 2016 | An 18.3-Mb Duplication on Chromosome 14q With Multiple Cardiac Anomalies and Clubfoot Was Identified by Microarray Analysis
| ANNALS OF LABORATORY MEDICINE |
| 2016 | Automated CH50 liposome-based immunoassay: consideration in dilution and validation of reference interval | CLINICAL CHEMISTRY AND LABORATORY MEDICINE |
| 2016 | Magnetic bead-based nucleic acid purification kit: Clinical application and performance evaluation in stool specimens | JOURNAL OF MICROBIOLOGICAL METHODS |
| 2016 | Comparison of Six Automated Treponema-Specific Antibody Assays
| JOURNAL OF CLINICAL MICROBIOLOGY |
| 2015 | Comparison of MALDI-TOF MS, housekeeping gene sequencing, and 16S rRNA gene sequencing for identification of Aeromonas clinical isolates
| YONSEI MEDICAL JOURNAL |
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