| 2022 | A database of 5305 healthy Korean individuals reveals genetic and clinical implications for an East Asian population
| EXPERIMENTAL AND MOLECULAR MEDICINE |
| 2018 | A Multi-layered Quantitative In Vivo Expression Atlas of the Podocyte Unravels Kidney Disease Candidate Genes
| CELL REPORTS |
| 2019 | A novel early truncation mutation in OTOG causes prelingual mild hearing loss without vestibular dysfunction | EUROPEAN JOURNAL OF MEDICAL GENETICS |
| 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 |
| 2019 | A recurrent mutation in KCNQ4 in Korean families with nonsyndromic hearing loss and rescue of the channel activity by KCNQ activators | HUMAN MUTATION |
| 2011 | A synonymous variation in protease-activated receptor-2 is associated with atopy in Korean children | JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY |
| 2023 | A TEAD2-Driven Endothelial-Like Program Shapes Basal-Like Differentiation and Metastasis of Pancreatic Cancer | GASTROENTEROLOGY |
| 2017 | Accuracy of Next-Generation Sequencing for Molecular Diagnosis in Patients With Infantile Nystagmus Syndrome | JAMA OPHTHALMOLOGY |
| 2021 | Activation of KCNQ4 as a Therapeutic Strategy to Treat Hearing Loss
| INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES |
| 2020 | ADCK4 Deficiency Destabilizes the Coenzyme Q Complex, Which Is Rescued by 2,4-Dihydroxybenzoic Acid Treatment | JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY |
| 2017 | Adult-Onset Vitelliform Macular Dystrophy caused by BEST1 p.Ile38Ser Mutation is a Mild Form of Best Vitelliform Macular Dystrophy
| SCIENTIFIC REPORTS |
| 2017 | Advillin acts upstream of phospholipase C ϵ1 in steroid-resistant nephrotic syndrome
| JOURNAL OF CLINICAL INVESTIGATION |
| 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 |
| 2015 | Analysis of conventional and unconventional trafficking of CFTR and other membrane proteins | Methods in Molecular Biology (Clifton, N.J.) |
| 2017 | ANO9/TMEM16J promotes tumourigenesis via EGFR and is a novel therapeutic target for pancreatic cancer | BRITISH JOURNAL OF CANCER |
| 2012 | Autistic-like social behaviour in Shank2-mutant mice improved by restoring NMDA receptor function | NATURE |
| 2012 | Cholesterol modulates cell signaling and protein networking by specifically interacting with PDZ domain-containing scaffold proteins
| NATURE COMMUNICATIONS |
| 2022 | Clinical Heterogeneity Associated with MYO7A Variants Relies on Affected Domains
| BIOMEDICINES |
| 2022 | COCH-related autosomal dominant nonsyndromic hearing loss: a phenotype-genotype study | HUMAN GENETICS |
| 2023 | Comprehensive Prediction Model, Including Genetic Testing, for the Outcomes of Cochlear Implantation | EAR AND HEARING |
| 2019 | Contribution of SLC22A12 on hypouricemia and its clinical significance for screening purposes
| SCIENTIFIC REPORTS |
| 2021 | CRISPR-Cas9 In Vivo Gene Editing for Transthyretin Amyloidosis | NEW ENGLAND JOURNAL OF MEDICINE |
| 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 |
| 2023 | Deep learning outperforms kidney organoid experts
| KIDNEY RESEARCH AND CLINICAL PRACTICE |
| 2022 | Differential genetic diagnoses of adult post-lingual hearing loss according to the audiogram pattern and novel candidate gene evaluation
| HUMAN GENETICS |
| 2023 | Disease modeling of ADAMTS9-related nephropathy using kidney organoids reveals its roles in tubular cells and podocytes
| FRONTIERS IN MEDICINE |
| 2021 | Dynamic Chronological Changes in Serum Triglycerides Are Associated With the Time Point for Non-alcoholic Fatty Liver Disease Development in the Nationwide Korean Population Cohort
| FRONTIERS IN MEDICINE |
| 2018 | Expression of YAP and TAZ in molluscum contagiosum virus infected skin | BRITISH JOURNAL OF DERMATOLOGY |
| 2016 | FAT1 mutations cause a glomerulotubular nephropathy
| NATURE COMMUNICATIONS |
| 2016 | Functional characterization of ABCB4 mutations found in progressive familial intrahepatic cholestasis type 3.
| SCIENTIFIC REPORTS |
| 2019 | Gene panel sequencing identifies a likely monogenic cause in 7% of 235 Pakistani families with nephrolithiasis | Human Genetics |
| 2023 | Genetic Characteristics and Audiological Performance After Cochlear Implantation in Patients With Incomplete Partition Type III
| CLINICAL AND EXPERIMENTAL OTORHINOLARYNGOLOGY |
| 2020 | Genetic Inheritance of Late-Onset, Down-Sloping Hearing Loss and Its Implications for Auditory Rehabilitation | EAR AND HEARING |
| 2017 | Genetic Predisposition to Sporadic Congenital Hearing Loss in a Pediatric Population
| SCIENTIFIC REPORTS |
| 2017 | Genetics of vesicoureteral reflux and congenital anomalies of the kidney and urinary tract
| INVESTIGATIVE AND CLINICAL UROLOGY |
| 2022 | Genome-wide association study identifies TNFSF15 associated with childhood asthma | ALLERGY |
| 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 |
| 2021 | Heterogeneity of MYO15A variants significantly determine the feasibility of acoustic stimulation with hearing aid and cochlear implant | HEARING RESEARCH |
| 2010 | House dust mite extract activates apical Cl(-) channels through protease-activated receptor 2 in human airway epithelia | JOURNAL OF CELLULAR BIOCHEMISTRY |
| 2020 | Immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome: A systematic review | AUTOIMMUNITY REVIEWS |
| 2022 | In vivo outer hair cell gene editing ameliorates progressive hearing loss in dominant-negative Kcnq4 murine model
| THERANOSTICS |
| 2023 | Increased Risk of Renal Malignancy in Patients with Moderate to Severe Atopic Dermatitis
| CANCERS |
| 2021 | Insulin-activated store-operated Ca 2+ entry via Orai1 induces podocyte actin remodeling and causes proteinuria
| NATURE COMMUNICATIONS |
| 2023 | Lactobacillus plantarum ameliorates NASH-related inflammation by upregulating L-arginine production
| EXPERIMENTAL AND MOLECULAR MEDICINE |
| 2021 | LCCL peptide cleavage after noise exposure exacerbates hearing loss and is associated with the monocyte infiltration in the cochlea | HEARING RESEARCH |
| 2023 | LRRC6 regulates biogenesis of motile cilia by aiding FOXJ1 translocation into the nucleus
| CELL COMMUNICATION AND SIGNALING |
| 2021 | Microbiome analysis reveals that Ralstonia is responsible for decreased renal function in patients with ulcerative colitis
| CLINICAL AND TRANSLATIONAL MEDICINE |
| 2017 | Mutations in DZIP1L, which encodes a ciliary-transition-zone protein, cause autosomal recessive polycystic kidney disease
| NATURE GENETICS |
| 2017 | Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly
| NATURE GENETICS |
| 2019 | Mutations in KIRREL1, a slit diaphragm component, cause steroid-resistant nephrotic syndrome | KIDNEY INTERNATIONAL |
| 2016 | Mutations in nuclear pore genes NUP93, NUP205 and XPO5 cause steroid-resistant nephrotic syndrome.
| NATURE GENETICS |
| 2018 | Mutations in six nephrosis genes delineate a pathogenic pathway amenable to treatment
| NATURE COMMUNICATIONS |
| 2016 | Mutations in SLC26A1 Cause Nephrolithiasis. | AMERICAN JOURNAL OF HUMAN GENETICS |
| 2017 | Mutations in sphingosine-1-phosphate lyase cause nephrosis with ichthyosis and adrenal insufficiency
| JOURNAL OF CLINICAL INVESTIGATION |
| 2019 | Mutations of ADAMTS9 Cause Nephronophthisis-Related Ciliopathy | AMERICAN JOURNAL OF HUMAN GENETICS |
| 2018 | Novel association between CDKAL1 and cholesterol efflux capacity: Replication after GWAS-based discovery | ATHEROSCLEROSIS |
| 2021 | Novel KCNQ4 variants in different functional domains confer genotype- and mechanism-based therapeutics in patients with nonsyndromic hearing loss
| EXPERIMENTAL AND MOLECULAR MEDICINE |
| 2023 | Novel Variant in CEP250 Causes Protein Mislocalization and Leads to Nonsyndromic Autosomal Recessive Type of Progressive Hearing Loss
| CELLS(Cells) |
