| 2019 | Mutations of ADAMTS9 Cause Nephronophthisis-Related Ciliopathy | 임정훈, 지헌영 | Article |
| 2019 | The TECTA mutation R1890C is identified as one of the causes of genetic hearing loss: a case report
| 이승태, 정진세, 지헌영, 최재영, 최종락 | Article |
| 2019 | Gene panel sequencing identifies a likely monogenic cause in 7% of 235 Pakistani families with nephrolithiasis | 지헌영 | Article |
| 2019 | A novel early truncation mutation in OTOG causes prelingual mild hearing loss without vestibular dysfunction | 정진세, 지헌영, 최재영 | Article |
| 2019 | A recurrent mutation in KCNQ4 in Korean families with nonsyndromic hearing loss and rescue of the channel activity by KCNQ activators | 신동훈, 이민구, 정진세, 지헌영, 최재영 | Article |
| 2018 | Specific autophagy and ESCRT components participate in the unconventional secretion of CFTR | 강정민, 김연정, 노신혜, 박학, 이민구, 지헌영 | Article |
| 2018 | Whole-exome sequencing identifies two novel mutations in KCNQ4 in individuals with nonsyndromic hearing loss
| 김성헌, 정진세, 지헌영, 최재영 | Article |
| 2018 | Mutations in multiple components of the nuclear pore complex cause nephrotic syndrome
| 지헌영 | Article |
| 2018 | Rapid-Onset Obesity with Hypoventilation, Hypothalamic, Autonomic Dysregulation, and Neuroendocrine Tumors (ROHHADNET) Syndrome: A Systematic Review
| 김지홍, 신재일, 이금화, 지헌영 | Article |
| 2018 | A novel HIF1AN substrate KANK3 plays a tumor-suppressive role in hepatocellular carcinoma | 지헌영 | Article |
| 2018 | Whole exome sequencing frequently detects a monogenic cause in early onset nephrolithiasis and nephrocalcinosis | 지헌영 | Article |
| 2018 | Whole Exome Sequencing of Patients with Steroid-Resistant Nephrotic Syndrome | 지헌영 | Article |
| 2018 | Mutations in six nephrosis genes delineate a pathogenic pathway amenable to treatment
| 지헌영 | Article |
| 2018 | ZMYND10 stabilizes intermediate chain proteins in the cytoplasmic pre-assembly of dynein arms
| 김혜연, 노신혜, 이민구, 지헌영, 한수민 | Article |
| 2018 | Analysis of 24 genes reveals a monogenic cause in 11.1% of cases with steroid-resistant nephrotic syndrome at a single center | 지헌영 | Article |
| 2018 | Unconventional secretion of transmembrane proteins | 이민구, 지헌영 | Article |
| 2018 | Expression of YAP and TAZ in molluscum contagiosum virus infected skin | 지헌영 | Article |
| 2018 | Recent advances of animal model of focal segmental glomerulosclerosis | 신재일, 지헌영 | Article |
| 2018 | Novel association between CDKAL1 and cholesterol efflux capacity: Replication after GWAS-based discovery | 강석민, 박성하, 이상학, 지헌영 | Article |
| 2018 | A Multi-layered Quantitative In Vivo Expression Atlas of the Podocyte Unravels Kidney Disease Candidate Genes
| 지헌영 | Article |
| 2018 | Unconventional protein secretion - new insights into the pathogenesis and therapeutic targets of human diseases | 이민구, 지헌영 | Article |
| 2017 | A novel missense mutation in NR0B1 causes delayed-onset primary adrenal insufficiency in adults | 지헌영 | Article |
| 2017 | Advillin acts upstream of phospholipase C ϵ1 in steroid-resistant nephrotic syndrome
| 지헌영 | Article |
| 2017 | Whole-exome sequencing identified a missense mutation in WFS1 causing low-frequency hearing loss: a case report
| 정진세, 지헌영, 최재영 | Article |
| 2017 | ANO9/TMEM16J promotes tumourigenesis via EGFR and is a novel therapeutic target for pancreatic cancer | 박학, 박형순, 이민구, 전익현, 정진세, 정희철, 지헌영 | Article |
| 2017 | Accuracy of Next-Generation Sequencing for Molecular Diagnosis in Patients With Infantile Nystagmus Syndrome | 박혜원, 이승태, 임정훈, 지헌영, 최종락, 한승한, 한진우 | Article |
| 2017 | Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly
| 지헌영 | Article |
| 2017 | Cystic kidneys in fetal Walker-Warburg syndrome with POMT2 mutation: Intrafamilial phenotypic variability in four siblings and review of literature | 지헌영 | Article |
| 2017 | Mutations in DZIP1L, which encodes a ciliary-transition-zone protein, cause autosomal recessive polycystic kidney disease
| 지헌영 | Article |
| 2017 | Adult-Onset Vitelliform Macular Dystrophy caused by BEST1 p.Ile38Ser Mutation is a Mild Form of Best Vitelliform Macular Dystrophy
| 김응권, 이민구, 이승규, 이지환, 전익현, 지헌영, 최승일 | Article |
| 2017 | Mutations in sphingosine-1-phosphate lyase cause nephrosis with ichthyosis and adrenal insufficiency
| 지헌영 | Article |
| 2017 | Genetic Predisposition to Sporadic Congenital Hearing Loss in a Pediatric Population
| 윤주헌, 정진세, 지헌영, 최재영 | Article |
| 2017 | Mutations in MAPKBP1 Cause Juvenile or Late-Onset Cilia-Independent Nephronophthisis | 지헌영 | Article |
| 2017 | Fecal Occult Blood Test Results of the National Colorectal Cancer Screening Program in South Korea (2006-2013)
| 김정호, 임정훈, 지헌영 | Article |
| 2017 | Genetics of vesicoureteral reflux and congenital anomalies of the kidney and urinary tract
| 신재일, 이금화, 지헌영 | Article |
| 2016 | Large-scale targeted sequencing comparison highlights extreme genetic heterogeneity in nephronophthisis-related ciliopathies
| 지헌영 | Article |
| 2016 | FAT1 mutations cause a glomerulotubular nephropathy
| 지헌영 | Article |
| 2016 | Prevalence of Monogenic Causes in Pediatric Patients with Nephrolithiasis or Nephrocalcinosis | 지헌영 | Article |
| 2016 | The HSP70 co-chaperone DNAJC14 targets misfolded pendrin for unconventional protein secretion.
| 김지윤, 노신혜, 이민구, 전익현, 정진세, 지헌영, 최재영 | Article |
| 2016 | Mutations in SLC26A1 Cause Nephrolithiasis. | 이민구, 전익현, 지헌영 | Article |
| 2016 | Loss of Epithelial Membrane Protein 2 Aggravates Podocyte Injury via Upregulation of Caveolin-1. | 지헌영 | Article |
| 2016 | Functional characterization of ABCB4 mutations found in progressive familial intrahepatic cholestasis type 3.
| 노신혜, 지헌영 | Article |
| 2016 | Whole exome sequencing identifies causative mutations in the majority of consanguineous or familial cases with childhood-onset increased renal echogenicity.
| 지헌영 | Article |
| 2016 | Mutations in nuclear pore genes NUP93, NUP205 and XPO5 cause steroid-resistant nephrotic syndrome.
| 지헌영 | Article |
| 2015 | Analysis of conventional and unconventional trafficking of CFTR and other membrane proteins | 김주영, 이민구, 지헌영 | Article |
| 2015 | DCDC2 mutations cause a renal-hepatic ciliopathy by disrupting Wnt signaling
| 지헌영 | Article |
| 2015 | KANK deficiency leads to podocyte dysfunction and nephrotic syndrome
| 지헌영 | Article |
| 2015 | A single-gene cause in 29.5% of cases of steroid-resistant nephrotic syndrome | 지헌영 | Article |
| 2015 | IFT81, encoding an IFT-B core protein, as a very rare cause of a ciliopathy phenotype
| 지헌영 | Article |
| 2015 | Mutations of the SLIT2-ROBO2 pathway genes SLIT2 and SRGAP1 confer risk for congenital anomalies of the kidney and urinary tract
| 지헌영 | Article |
http://orcid.org/0000-0002-8741-6177
(Yonsei Health Research Network)
(55280029300)
