1) Clinical application of a phenotype-based NGS panel for differential diagnosis of inherited kidney disease and beyond, CLINICAL GENETICS: 99, 236-249, 2021

2) Potential role of stress-induced gluconeogenesis in disease aggravation and mortality in pyruvate dehydrogenase deficiency: A case-based hypothesis, MEDICAL HYPOTHESE, 146, 1-6, 2021

3) Generation of induced pluripotent stem cells (KSCBi009-A) from a patient with Prader-Willi syndrome (PWS) featuring deletion of the paternal chromosome region 15q11.2-q13, Stem Cell Res, 46, doi: 10.1016/j.scr.2020.101847. Epub, 2020

4) Systematic Approach for Drug Repositioning of Anti-Epileptic Drugs, Diagnostics, 9, 208-218, 2019

5) Implementation of a Targeted Next-Generation Sequencing Panel for Constitutional Newborn Screening in High-Risk Neonates, YONSEI MEDICAL JOURNAL, 60, 1061-1066, 2019

6) Oral Pyridostigmine-Responsive Visceral Myopathy with ACTG2 Mutations: A case series, JOURNAL OF PEDIATRIC GASTROENTEROLOGY AND NUTRITION, doi: 10.1097/MPG.0000000000002183, 2019

7) A Novel Heterozygous ANO3 Mutation with Basal Ganglia Dysfunction in a Patient with Adult-Onset Isolated Segmental Dystonia, JOURNAL OF CLINICAL NEUROLOGY, 14, 596-597, 2018

8) Fructose-1,6-bisphosphatase deficiency presented with complex febrile convulsion, NEUROENDOCRINOLOGY LETTERS, 39, 533-536, 2018

9) Clinical application of next-generation sequencing for the diagnosis of segmental neurofibromatosis, JOURNAL OF DERMATOLOGICAL SCIENCE, 88, 370-372, 2017

10) Prevalence of Rare Genetic Variations and Their Implications in NGS-data Interpretation, SCIENTIFIC REPORTS, 7: 9810 | DOI:10.1038/s41598-017-09247-5, 2017

11) Identification of disease comorbidity through hidden molecular mechanisms, SCIENTIFIC REPORTS, 6:39433 | DOI: 10.1038/srep39433, 2016