1. Journal Papers

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Issue DateTitleJournal Title
2017Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly NATURE GENETICS
2017Constriction of the mitochondrial inner compartment is a priming event for mitochondrial division. NATURE COMMUNICATIONS
2017Cystic kidneys in fetal Walker-Warburg syndrome with POMT2 mutation: Intrafamilial phenotypic variability in four siblings and review of literatureAMERICAN JOURNAL OF MEDICAL GENETICS PART A
2017Ezetimibe ameliorates steatohepatitis via AMP activated protein kinase-TFEB-mediated activation of autophagy and NLRP3 inflammasome inhibitionAUTOPHAGY
2017Genetics of vesicoureteral reflux and congenital anomalies of the kidney and urinary tract INVESTIGATIVE AND CLINICAL UROLOGY
2017A coding variant in FTO confers susceptibility to thiopurine-induced leukopenia in East Asian patients with IBDGUT
2017Oncogenic BRAF fusions in mucosal melanomas activate the MAPK pathway and are sensitive to MEK/PI3K inhibition or MEK/CDK4/6 inhibitionONCOGENE
2017Green Teeth Associated Hyperbilirubinemia in Primary Dentition Journal of the Korean Academy of Pediatric Dentistry (대한소아치과학회지)
2017Mutations in DZIP1L, which encodes a ciliary-transition-zone protein, cause autosomal recessive polycystic kidney disease NATURE GENETICS
2017Adult-Onset Vitelliform Macular Dystrophy caused by BEST1 p.Ile38Ser Mutation is a Mild Form of Best Vitelliform Macular Dystrophy SCIENTIFIC REPORTS
2017Optimizing reproducibility of operant testing through reinforcer standardization: identification of key nutritional constituents determining reward strength in touchscreens MOLECULAR BRAIN
2017Comparison of clinical outcomes between wavefront-optimized versus corneal wavefront-guided transepithelial photorefractive keratectomy for myopic astigmatismJOURNAL OF CATARACT AND REFRACTIVE SURGERY
2017Peripheral Sensory Deprivation Restores Critical-Period-like Plasticity to Adult Somatosensory Thalamocortical Inputs CELL REPORTS
2013Increased systemic exposure of fimasartan, an angiotensin II receptor antagonist, by ketoconazole and rifampicinJOURNAL OF CLINICAL PHARMACOLOGY
2012Rescue of epithelial HCO3- secretion in murine intestine by apical membrane expression of the cystic fibrosis transmembrane conductance regulator mutant F508del JOURNAL OF PHYSIOLOGY-LONDON
2012Non-classical membrane trafficking processes galoreJOURNAL OF CELLULAR PHYSIOLOGY
2012Cholesterol modulates cell signaling and protein networking by specifically interacting with PDZ domain-containing scaffold proteins NATURE COMMUNICATIONS
2015뇌성마비인 청소년의 치간이개 치료법 결정 Journal of Korean Association for Disability and Oral Health
2015Selective serotonin reuptake inhibitors facilitate ANO6 (TMEM16F) current activation and phosphatidylserine exposurePFLUGERS ARCHIV-EUROPEAN JOURNAL OF PHYSIOLOGY
2015A Novel BEST1 Mutation in Autosomal Recessive BestrophinopathyINVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE

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