Research Explorer

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Project

Genotype-phenotype studies and gene therapy for inherited blindness

Outputs & Impact

Publications & research data ( 21 )

Generation and characterization of three human induced pluripotent stem cell lines (UGENTi005, UGENTi006 and UGENTi007) from patients with autosomal dominant adult-onset maculopathy due to RPE65 variant c.1555G>A, p.(E519K)

Eline Van VoorenFilip Van Den BroeckEsperanza DaalMehrnaz GhazviniJulie De ZaeytijdBart LeroyMiriam BauwensElfride De Baere

A1 Journal Article in STEM CELL RESEARCH

RPE65 variant p.(E519K) causes a novel dominant adult-onset maculopathy in 83 affected individuals

Eline Van VoorenFilip Van Den BroeckQuinten MahieuEline GeensMattias Van HeetveldeMarieke De BruyneStijn Van de SompeleSheetal UppalEugenia PoliakovClaire-Marie Dhaenens et al.

A1 Journal Article in INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE

Generation of two iPSC lines (UGENTi003 and UGENTi004) from patients with intermediate rod-cone dystrophy carrying the c.[-123C>T;701G>A]; [806_810del] variants in the RDH12 gene

Manon BouckaertFilip Van Den BroeckM. GhazviniAlfredo Dueñas ReyHanne LenaertsAnnelies DheedeneKathleen ClaesElfride De BaereBart LeroyJulie De Zaeytijd et al.

A1 Journal Article in STEM CELL RESEARCH

Ocular graft-versus-host disease in allogeneic stem cell transplant recipients : a longitudinal cohort study evaluating ocular surface parameters before and after transplantation

Dimitri RoelsAnke DelieDominiek MazureKatrien De GroveIneke van GrembergheJoke DeprezIsabelle PeeneDirk ElewautBart LeroyIlse Claerhout et al.

A1 Journal Article in CORNEA

Characterising the refractive error in paediatric patients with congenital stationary night blindness : a multicentre study

Austin D. IgelmanElizabeth WhiteAlaa TayyibLesley EverettAjoy VincentElise HeonChristina ZeitzMichel MichaelidesOmar A. MahrooMohamed Katta et al.

A1 Journal Article in BRITISH JOURNAL OF OPHTHALMOLOGY

Bi-allelic variants in three genes encoding distinct subunits of the vesicular AP-5 complex cause hereditary macular dystrophy

Karolina KaminskaFrancesca CancellieriMathieu QuinodozAbigail R. MoyeMiriam BauwensSiying LinLucas Janeschitz-KrieglTamar HaymanPilar Barberán-MartínezRegina Schlaeger et al.

A1 Journal Article in AMERICAN JOURNAL OF HUMAN GENETICS

A novel recurrent ARL3 variant c.209G>A p.(Gly70Glu) causes variable non-syndromic dominant retinal dystrophy with defective lipidated protein transport in human retinal stem cell models

Julio C Corral-SerranoVeronika VaclavikStijn Van de SompeleKarolina KaminskaKatarina JovanovicPascal EscherFilip Van Den BroeckFrancesca CancellieriVasileios ToulisBart Leroy et al.

A1 Journal Article in HUMAN MOLECULAR GENETICS

Inherited retinal disease gene panel in posterior or panuveitis with dystrophic features

Stéphane AbramowiczAudrey MeunierDafina DraganovaLaure CaspersMarieke De BruyneStijn Van de SompeleElfride De BaereBart LeroyLaurence PostelmansFrançois Willermain

A1 Journal Article in RETINA-THE JOURNAL OF RETINAL AND VITREOUS DISEASES

Gonadal mosaicism as a rare inheritance pattern in recessive genodermatoses : report of two cases with pseudoxanthoma elasticum and literature review

Lisa DangreauMohammad Jakir HosenJulie De ZaeytijdBart LeroyPaul CouckeOlivier Vanakker

A1 Journal Article in CURRENT ISSUES IN MOLECULAR BIOLOGY

Diagnostic yield of an inherited retinal disease gene panel in retinopathy of unknown origin

Stéphane AbramowiczAudrey MeunierLaurence PostelmansLaure CaspersFrancis CorazzaMarieke De BruyneStijn Van de SompeleElfride De BaereBart LeroyFrançois Willermain et al.

A1 Journal Article in RETINA-THE JOURNAL OF RETINAL AND VITREOUS DISEASES

Optic nerve involvement in CACNA1F-related disease : observations from a multicentric case series

Elisa MarzialiFilip Van Den BroeckSara BargiacchiPina FortunatoRoberto CaputoAndrea SodiJulie De ZaeytijdVittoria MurroDario Pasquale MuccioloDario Giorgio et al.

A1 Journal Article in OPHTHALMIC GENETICS

Paediatric cataract surgery with 27G vitrectomy instrumentation : the Ghent University Hospital experience

Hwei Wuen ChanFilip Van Den BroeckAxelle CoolsSOPHIE WALRAEDTInge JoniauHannah VerdinIrina BalikovaStefaan Van NuffelPatricia DelbekeElfride De Baere et al.

A1 Journal Article in FRONTIERS IN MEDICINE

Randomized trial of bilateral gene therapy injection for m.11778G>A MT-ND4 Leber optic neuropathy

Nancy J. NewmanPatrick Yu-Wai-ManPrem S. SubramanianMark L. MosterAn-Guor WangSean P. DonahueBart LeroyValerio CarelliValerie BiousseCatherine Vignal-Clermont et al.

A1 Journal Article in BRAIN

Cost-effective sequence analysis of 113 genes in 1,192 probands with retinitis pigmentosa and Leber congenital amaurosis

Daan M. PannemanRebekkah J. Hitti-MalinLara K. HoltesSuzanne E. de BruijnJanine ReurinkErica G. M. BoonenMuhammad Imran KhanManir AliSten AndréassonElfride De Baere et al.

A1 Journal Article in FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY

Multi-omics approach dissects cis-regulatory mechanisms underlying North Carolina macular dystrophy, a retinal enhanceropathy

Stijn Van de SompeleKent W. SmallMünevver Burcu CicekdalVictor Lopez SorianoEva D'haeneFadi S. ShayaSteven AgemyThijs Van der SnicktAlfredo Dueñas ReyToon Rosseel et al.

A1 Journal Article in AMERICAN JOURNAL OF HUMAN GENETICS

Intravitreal antisense oligonucleotide sepofarsen in Leber congenital amaurosis type 10 : a phase 1b/2 trial

Stephen R. RussellArlene V. DrackArtur V. CideciyanSamuel G. JacobsonBart LeroyCaroline Van CauwenberghAllen C. HoAlina V. DumitrescuIan C. HanMitchell Martin et al.

A1 Journal Article in NATURE MEDICINE

The natural history of leber congenital amaurosis and cone–rod dystrophy associated with variants in the GUCY2D gene

Leo C. HahnMichalis GeorgiouHind AlmushattatMary J. van SchooneveldEmanuel R. de CarvalhoNieneke L. WesselingJacoline B. ten BrinkRalph J. FlorijnBirgit I. Lissenberg-WitteIne Strubbe et al.

A2 Journal Article in OPHTHALMOLOGY RETINA

Serum calcification propensity T50 associates with disease severity in patients with pseudoxanthoma elasticum

Lukas NolletMatthias Van GilsSuzanne FischerLaurence CampensSwapna KarthikAndreas PaschJulie De ZaeytijdBart LeroyDaniel DevosTine De Backer et al.

A1 Journal Article in JOURNAL OF CLINICAL MEDICINE

X-linked Retinoschisis : novel clinical observations and genetic spectrum in 340 patients

Leo C. HahnMary J. van SchooneveldNieneke L. WesselingRalph J. FlorijnJacoline B. ten BrinkBirgit I. Lissenberg-WitteIne StrubbeMagda A. Meester-SmoorAlberta A. ThiadensRoselie M. Diederen et al.

A1 Journal Article in OPHTHALMOLOGY

Longitudinal phenotypic study of late-onset retinal degeneration due to a founder variant c.562C > A p.(Pro188Thr) in the C1QTNF5 gene

Julie De ZaeytijdFrauke CoppietersMarieke De BruyneJasper Van RoyenDimitri RoelsRani SixCaroline Van CauwenberghElfride De BaereBart Leroy

A1 Journal Article in OPHTHALMIC GENETICS

The corneoscleral shape in Marfan syndrome

Eva VanhonsebrouckAlejandra ConsejoPaul CouckeBart LeroyElke O. Kreps

A1 Journal Article in ACTA OPHTHALMOLOGICA

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