| 2020 | ADCK4 Deficiency Destabilizes the Coenzyme Q Complex, Which Is Rescued by 2,4-Dihydroxybenzoic Acid Treatment | JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY |
| 2020 | Immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome: A systematic review | AUTOIMMUNITY REVIEWS |
| 2020 | SGLT2 Inhibition Modulates NLRP3 Inflammasome Activity via Ketones and Insulin in Diabetes With Cardiovascular Disease
| NATURE COMMUNICATIONS |
| 2020 | PLCE1 Regulates the Migration, Proliferation, and Differentiation of Podocytes
| EXPERIMENTAL AND MOLECULAR MEDICINE |
| 2020 | Genomic Landscape and Mutational Spectrum of ADAMTS Family Genes in Mendelian Disorders Based on Gene Evidence Review for Variant Interpretation
| BIOMOLECULES |
| 2020 | Grasp55 -/- Mice Display Impaired Fat Absorption and Resistance to High-Fat Diet-Induced Obesity
| NATURE COMMUNICATIONS |
| 2020 | Genetic Inheritance of Late-Onset, Down-Sloping Hearing Loss and Its Implications for Auditory Rehabilitation | EAR AND HEARING |
| 2019 | The incidence rates and risk factors of Parkinson disease in patients with psoriasis: A nationwide population-based cohort study | JOURNAL OF THE AMERICAN ACADEMY OF DERMATOLOGY |
| 2019 | Secreted metalloproteases ADAMTS9 and ADAMTS20 have a non-canonical role in ciliary vesicle growth during ciliogenesis
| NATURE COMMUNICATIONS |
| 2019 | Contribution of SLC22A12 on hypouricemia and its clinical significance for screening purposes
| SCIENTIFIC REPORTS |
| 2019 | Mutations in KIRREL1, a slit diaphragm component, cause steroid-resistant nephrotic syndrome | KIDNEY INTERNATIONAL |
| 2019 | Rare KCNQ4 variants found in public databases underlie impaired channel activity that may contribute to hearing impairment | Experimental and Molecular Medicine |
| 2019 | Systematic evaluation of gene variants linked to hearing loss based on allele frequency threshold and filtering allele frequency
| Scientific Reports |
| 2019 | Gene panel sequencing identifies a likely monogenic cause in 7% of 235 Pakistani families with nephrolithiasis | Human Genetics |
| 2019 | The TECTA mutation R1890C is identified as one of the causes of genetic hearing loss: a case report
| BMC MEDICAL GENETICS |
| 2019 | Mutations of ADAMTS9 Cause Nephronophthisis-Related Ciliopathy | AMERICAN JOURNAL OF HUMAN GENETICS |
| 2019 | A recurrent mutation in KCNQ4 in Korean families with nonsyndromic hearing loss and rescue of the channel activity by KCNQ activators | HUMAN MUTATION |
| 2019 | A novel early truncation mutation in OTOG causes prelingual mild hearing loss without vestibular dysfunction | EUROPEAN JOURNAL OF MEDICAL GENETICS |
| 2018 | Rapid-Onset Obesity with Hypoventilation, Hypothalamic, Autonomic Dysregulation, and Neuroendocrine Tumors (ROHHADNET) Syndrome: A Systematic Review
| BIOMED RESEARCH INTERNATIONAL |
| 2018 | Mutations in multiple components of the nuclear pore complex cause nephrotic syndrome
| JOURNAL OF CLINICAL INVESTIGATION |
| 2018 | Whole-exome sequencing identifies two novel mutations in KCNQ4 in individuals with nonsyndromic hearing loss
| SCIENTIFIC REPORTS |
| 2018 | Specific autophagy and ESCRT components participate in the unconventional secretion of CFTR | AUTOPHAGY |
| 2018 | Unconventional secretion of transmembrane proteins | SEMINARS IN CELL & DEVELOPMENTAL BIOLOGY |
| 2018 | Expression of YAP and TAZ in molluscum contagiosum virus infected skin | BRITISH JOURNAL OF DERMATOLOGY |
| 2018 | Recent advances of animal model of focal segmental glomerulosclerosis | CLINICAL AND EXPERIMENTAL NEPHROLOGY |
| 2018 | Unconventional protein secretion - new insights into the pathogenesis and therapeutic targets of human diseases | JOURNAL OF CELL SCIENCE |
| 2018 | A Multi-layered Quantitative In Vivo Expression Atlas of the Podocyte Unravels Kidney Disease Candidate Genes
| CELL REPORTS |
| 2018 | Mutations in six nephrosis genes delineate a pathogenic pathway amenable to treatment
| NATURE COMMUNICATIONS |
| 2018 | ZMYND10 stabilizes intermediate chain proteins in the cytoplasmic pre-assembly of dynein arms
| PLOS GENETICS |
| 2018 | Analysis of 24 genes reveals a monogenic cause in 11.1% of cases with steroid-resistant nephrotic syndrome at a single center | PEDIATRIC NEPHROLOGY |
| 2018 | Novel association between CDKAL1 and cholesterol efflux capacity: Replication after GWAS-based discovery | ATHEROSCLEROSIS |
| 2018 | Whole Exome Sequencing of Patients with Steroid-Resistant Nephrotic Syndrome | CLINICAL JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY |
| 2018 | Whole exome sequencing frequently detects a monogenic cause in early onset nephrolithiasis and nephrocalcinosis | KIDNEY INTERNATIONAL |
| 2018 | A novel HIF1AN substrate KANK3 plays a tumor-suppressive role in hepatocellular carcinoma | CELL BIOLOGY INTERNATIONAL |
| 2017 | A novel missense mutation in NR0B1 causes delayed-onset primary adrenal insufficiency in adults | CLINICAL GENETICS |
| 2017 | Advillin acts upstream of phospholipase C ϵ1 in steroid-resistant nephrotic syndrome
| JOURNAL OF CLINICAL INVESTIGATION |
| 2017 | Whole-exome sequencing identified a missense mutation in WFS1 causing low-frequency hearing loss: a case report
| BMC MEDICAL GENETICS |
| 2017 | ANO9/TMEM16J promotes tumourigenesis via EGFR and is a novel therapeutic target for pancreatic cancer | BRITISH JOURNAL OF CANCER |
| 2017 | Accuracy of Next-Generation Sequencing for Molecular Diagnosis in Patients With Infantile Nystagmus Syndrome | JAMA OPHTHALMOLOGY |
| 2017 | Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly
| NATURE GENETICS |
| 2017 | Cystic kidneys in fetal Walker-Warburg syndrome with POMT2 mutation: Intrafamilial phenotypic variability in four siblings and review of literature | AMERICAN JOURNAL OF MEDICAL GENETICS PART A |
| 2017 | Genetics of vesicoureteral reflux and congenital anomalies of the kidney and urinary tract
| INVESTIGATIVE AND CLINICAL UROLOGY |
| 2017 | Mutations in DZIP1L, which encodes a ciliary-transition-zone protein, cause autosomal recessive polycystic kidney disease
| NATURE GENETICS |
| 2017 | Adult-Onset Vitelliform Macular Dystrophy caused by BEST1 p.Ile38Ser Mutation is a Mild Form of Best Vitelliform Macular Dystrophy
| SCIENTIFIC REPORTS |
| 2017 | Mutations in sphingosine-1-phosphate lyase cause nephrosis with ichthyosis and adrenal insufficiency
| JOURNAL OF CLINICAL INVESTIGATION |
| 2017 | Genetic Predisposition to Sporadic Congenital Hearing Loss in a Pediatric Population
| SCIENTIFIC REPORTS |
| 2017 | Mutations in MAPKBP1 Cause Juvenile or Late-Onset Cilia-Independent Nephronophthisis | AMERICAN JOURNAL OF HUMAN GENETICS |
| 2017 | Fecal Occult Blood Test Results of the National Colorectal Cancer Screening Program in South Korea (2006-2013)
| SCIENTIFIC REPORTS |
| 2016 | Functional characterization of ABCB4 mutations found in progressive familial intrahepatic cholestasis type 3.
| SCIENTIFIC REPORTS |
| 2016 | Whole exome sequencing identifies causative mutations in the majority of consanguineous or familial cases with childhood-onset increased renal echogenicity.
| KIDNEY INTERNATIONAL |
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