Research Explorer

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Researcher

Bart Leroy

Awards & Distinctions

311 Results

2025

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

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.

U Journal Article in The American Journal of Human Genetics

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.

U Journal Article in BRITISH JOURNAL OF OPHTHALMOLOGY

INHERITED RETINAL DISEASE GENE PANEL IN POSTERIOR OR PANUVEITIS WITH DYSTROPHIC FEATURES

Stephane AbramowiczAudrey MeunierDafina DraganovaLaure CaspersMarieke De BruyneStijn Van de SompeleElfride De BaereBart LeroyLaurence PostelmansFrancois Willermain

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

2024

Anterior scleral thickness in Marfan syndrome : a quantitative analysis

Lien AlluynLaure DequekerSiska DhaeseAlejandra ConsejoJulie De ZaeytijdBart LeroyJulie De BackerElke O. Kreps

A1 Journal Article in ACTA OPHTHALMOLOGICA

Characteristics of autosomal dominant WFS1-associated optic neuropathy and its comparability to OPA1-associated autosomal dominant optic atrophy

Cansu de MuijnckLonneke Haer-WigmanJudith A. M. van EverdingenTanya LushchykPam A. T. HeutinckMarieke F. van DoorenAnneke J. A. KievitVirginie J. M. VerhoevenMarleen E. H. SimonRosemarie A. Wasmann et al.

U Journal Article in SCIENTIFIC REPORTS

Combining a prioritization strategy and functional studies nominates 5'UTR variants underlying inherited retinal disease

Alfredo Dueñas ReyMarta del Pozo ValeroManon BouckaertKatherine A. WoodFilip Van Den BroeckMalena Daich VarelaHuw B. ThomasMattias Van HeetveldeMarieke De BruyneStijn Van de Sompele et al.

A1 Journal Article in GENOME MEDICINE

DIAGNOSTIC YIELD OF AN INHERITED RETINAL DISEASE GENE PANEL IN RETINOPATHY OF UNKNOWN ORIGIN

Stephane AbramowiczAudrey MeunierLaurence PostelmansLaure CaspersFrancis CorazzaMarieke De BruyneStijn Van de SompeleElfride De BaereBart LeroyFrancois Willermain et al.

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

ERN-EYE virtual clinic for rare eye diseases as a successful effort towards solving complex and rare ophthalmic conditions in Europe

Monika Grudzinska PechhackerFrancesco RotoloDorothee LerouxAmelie GavardCaroline Wernert-IbergMaximin BeginBernard CoupezPetra LiskovaDaniel BoehringerFrank G. Holz et al.

Genetic Testing of Patients with Inherited Retinal Diseases in the European Countries: An International Survey by the European Vision Institute

Giacomo CalzettiKerstin SchwarzwalderGiorgia OttonelliKarolina KaminskaRupert Wolfgang StraussElfride De BaereBart LeroyIsabelle AudoChristina ZeitzClaus Cursiefen et al.

U Journal Article in OPHTHALMIC RESEARCH

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

Mutations in SAMD7 cause autosomal-recessive macular dystrophy with or without cone dysfunction

Miriam BauwensElifnaz CelikDinah ZurSiying LinMathieu QuinodozMichel MichaelidesAndrew R WebsterFilip Van Den BroeckBart LeroyLeah Rizel et al.

A1 Journal Article in AMERICAN JOURNAL OF HUMAN GENETICS

2023

A systematic approach to characterize the contribution of 5'UTR variation to inherited retinal disease

Alfredo Dueñas ReyManon BouckaertMarta del Pozo ValeroMarieke De BruyneMattias Van HeetveldeJamie EllingfordGavin ArnoAndrew WebsterCarmen AyusoCarlo Rivolta et al.

An in vitro enzymatic assay to elucidate the VUS problem in RPE65, a target for retinal gene therapy

Eline Van VoorenSuzanne KohlCarlo RivoltaBart LeroyMiriam BauwensElfride De Baere

An in vitro enzymatic assay to elucidate the VUS problem in RPE65, a target for retinal gene therapy

Eline Van VoorenSuzanne KohlCarlo RivoltaBart LeroyMiriam BauwensElfride De Baere

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

Dual molecular effects of constitutional SF3B2 variants cause a novel dominant spliceosomopathy displaying retinitis pigmentosa or developmental skeletal anomalies

Stijn Van de SompeleCaroline Van CauwenberghMarjolein CarronAlfredo Dueñas ReyFrauke CoppietersToon RosseelHong TranRobrecht CannoodtThalia Van LaethemBrecht Guillemyn et al.

Indirect comparison of lenadogene nolparvovec gene therapy versus natural history in patients with Leber hereditary optic neuropathy carrying the m.11778G>A MT-ND4 mutation

V CarelliNJ NewmanP Yu-Wai-ManV BiousseML MosterPS SubramanianC Vignal-ClermontAG WangSP DonahueBart Leroy et al.

A1 Journal Article in OPHTHALMOLOGY AND THERAPY

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.

U Journal Article in OPHTHALMIC GENETICS

Outcome of cataract surgery in patients with retinitis pigmentosa

Xuan-Thanh-An NguyenAlberta A.H.J. ThiadensMarta FioccoWeijen TanMartin McKibbinCaroline C.W. KlaverMagda A. Meester-SmoorCaroline Van CauwenberghIne StrubbeAndrea Vergaro et al.

A1 Journal Article in AMERICAN JOURNAL OF OPHTHALMOLOGY

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

Results of Belgian patients with RPE65-related inherited retinal dystrophy 6 months after treatment with voretigene neparvovec

Leen HertensCaroline Van CauwenberghFilip Van Den BroeckJulie SambaerManon Van HautePieter HertensElfride De BaereGeraldine AccouFanny NerinckxBart Leroy

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.

Unraveling the genetic basis of early-onset inherited retinal disease in a Saudi Arabian cohort reveals a novel RIMS2-related family

Basamat Almoallem MohammedMarta del Pozo ValeroLaila JeddawiKristof Van SchilToon RosseelSarah De JaegereBart LeroyKhalid EmaraFrauke CoppietersMiriam Bauwens et al.

Whole genome sequencing delineates novel non-coding variants and candidate genes in inherited retinal diseases

Marta del Pozo ValeroMiriam BauwensMarieke De BruyneFilip Van Den BroeckStephanie DulstQuinten QuintenAudrey MeunierThomy de RavelJoke RuysMattias Van Heetvelde et al.

Whole genome sequencing sheds light on the dark matter of the genome in patients with inherited retinal diseases

Miriam BauwensMarta del Pozo ValeroMarieke De BruyneFilip Van Den BroeckStephanie DulstQuinten MahieuAudrey MeunierThomy de Ravel de l'ArgentièreJoke RuysMattias Van Heetvelde et al.

2022

An in vitro enzymatic assay to elucidate the VUS problem in RPE65, a target for retinal gene therapy

Eline Van VoorenSuzanne KohlBart LeroyMiriam BauwensElfride De Baere

Clinical and subclinical findings in heterozygous ABCC6 carriers : results from a Belgian cohort and clinical practice guidelines

Lukas NolletLaurence CampensJulie De ZaeytijdBart LeroyDimitri HemelsoetPaul CouckeOlivier Vanakker

A1 Journal Article in JOURNAL OF MEDICAL GENETICS

Evaluation of visual outcome following cataract surgery in patients with retinitis pigmentosa

Xuan-Thanh-An NguyenAlberta A. H. J ThiadensMarta FioccoWeijen TanMartin McKibbinCaroline C. W KlaverMagda A Meester-SmoorCaroline Van CauwenberghIne StrubbeAndrea Vergaro et al.

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

Long-term deep phenotyping in inherited ocular disease novel genotype-phenotype correlations

Julie De ZaeytijdBart LeroyElfride De BaereFrauke Coppieters

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

Restoration of cone sensitivity to individuals with congenital photoreceptor blindness within the phase 1/2 sepofarsen trial

Artur V. CideciyanSamuel G. JacobsonAllen C. HoArun K. KrishnanAlejandro J. RomanAlexandra V. GarafaloVivian WuMalgorzata SwiderAlexander SumarokaCaroline Van Cauwenbergh et al.

A2 Journal Article in OPHTHALMOLOGY SCIENCE

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

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

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

2021

A qualitative study among patients with an inherited retinal disease on the meaning of genomic unsolicited findings

Marlies SaelaertHeidi MertesTania MoerenhoutCaroline Van CauwenberghBart LeroyIgnaas DevischElfride De Baere

A1 Journal Article in SCIENTIFIC REPORTS

A virtual reality orientation and mobility test for inherited retinal degenerations : testing a proof-of-concept after gene therapy

Tomas S. AlemanAlexander J. MillerKatherine H. MaguireElena M. AlemanLeona W. SerranoKeli B. O'ConnorEmma C. BedoukianBart LeroyAlbert M. MaguireJean Bennett

A2 Journal Article in CLINICAL OPHTHALMOLOGY

CRB1-associated retinal dystrophies in a Belgian cohort : genetic characteristics and long-term clinical follow-up

Mays TalibCaroline Van CauwenberghJulie De ZaeytijdDavid Van WynsbergheElfride De BaereCamiel J F BoonBart Leroy

A1 Journal Article in BRITISH JOURNAL OF OPHTHALMOLOGY

Clinical characteristics and natural history of rho-associated retinitis pigmentosa : a long-term follow-up study

Xuan-Thanh-An NguyenMays TalibCaroline Van CauwenberghMary J. van SchooneveldMarta FioccoJan WijnholdsJacoline B. ten BrinkRalph J. FlorijnNicoline E. Schalij-DelfosGislin Dagnelie et al.

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

Comparative natural history of visual function from patients with biallelic variants in BBS1 and BBS10

Monika K. Grudzinska PechhackerSamuel G. JacobsonV Drack, ArleneMatteo Di ScipioIne StrubbeWanda PfeiferJacque L. DuncanHelene DollfusNathalie GoetzJean Muller et al.

A1 Journal Article in INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE

Expanding the clinical spectrum and management of traboulsi syndrome : report on two siblings homozygous for a novel pathogenic variant in ASPH

Tom Van HoordeFanny NerinckxElke O. KrepsDimitri RoelsPhilippe HuygheMattias Van HeetveldeHannah VerdinElfride De BaereIrina BalikovaBart Leroy

A1 Journal Article in OPHTHALMIC GENETICS

Explaining disease variability in Pseudoxanthoma elasticum and related disorders

Eva De VilderOlivier VanakkerBart Leroy

Isolated maculopathy and moderate rod-cone dystrophy represent the milder end of the RDH12-related retinal dystrophy spectrum

Julie De ZaeytijdCaroline Van CauwenberghMarieke De BruyneMattias Van HeetveldeElfride De BaereFrauke CoppietersBart Leroy

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

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

Mild Leber hereditary optic neuropathy (LHON) in a Western European family due to the rare Asian m.14502T>C variant in the MT-ND6 gene

Justine VandeputteMattias Van HeetveldeCaroline Van CauwenberghSara SenecaElfride De BaereBart LeroyJulie De Zaeytijd

A1 Journal Article in OPHTHALMIC GENETICS

New variants and in silico analyses in GRK1 associated Oguchi disease

James A. PoulterMolly S. C. GravettRachel L. TaylorKaoru FujinamiJulie De ZaeytijdJames BellinghamAtta Ur RehmanTakaaki HayashiMineo KondoAbdur Rehman et al.

A1 Journal Article in HUMAN MUTATION

Phenocopy of a heterozygous carrier of X-linked retinitis pigmentosa due to mosaicism for a RHO variant

Ine StrubbeCaroline Van CauwenberghJulie De ZaeytijdSarah De JaegereMarieke De BruyneToon RosseelStijn Van de SompeleElfride De BaereBart Leroy

A1 Journal Article in SCIENTIFIC REPORTS

The corneoscleral shape in Marfan syndrome

Eva VanhonsebrouckAlejandra ConsejoPaul CouckeBart LeroyElke O. Kreps

A1 Journal Article in ACTA OPHTHALMOLOGICA

The need for widely available genomic testing in rare eye diseases : an ERN-EYE position statement

Graeme C. Black[missing] ERN-EYE study groupPanagiotis SergouniotisAndrea SodiBart LeroyCaroline Van CauwenberghPetra LiskovaKaren GrønskovArtur KlettSusanne Kohl et al.

A1 Journal Article in ORPHANET JOURNAL OF RARE DISEASES

The phenotypic spectrum of patients with PHARC syndrome due to variants in ABHD12 : an ophthalmic perspective

Xuan-Thanh-An NguyenHind AlmushattatIne StrubbeMichalis GeorgiouCatherina H. Z. LiMary J. van SchooneveldInge JoniauElfride De BaereRalph J. FlorijnArthur A. Bergen et al.

A1 Journal Article in GENES

2020

Exome-based panel testing as an efficient method to diagnose the highly heterogeneous ocular disorder spectrum Microphthalmia, Anophthalmia, Coloboma and Anterior Segment Dysgenesis (MAC-ASD)

Hannah VerdinToon RosseelSascha VermeerIrina BalikovaPhilippe KestelynColombine MeunierFrançoise MeireJulie Van De VeldeOlivier VanakkerJenneke Van Den Ende et al.

Functional characterization of novel MFSD8 pathogenic variants anticipates neurological involvement in juvenile isolated maculopathy

Miriam BauwensStephan StorchNicole WeisschuhChantal Ceuterick-de GrooteRiet De RyckeBrecht GuillemynSarah De JaegereFrauke CoppietersRudy Van CosterBart Leroy et al.

A1 Journal Article in CLINICAL GENETICS

Functional characterization of the first missense variant in CEP78, a founder allele associated with cone‐rod dystrophy, hearing loss and reduced male fertility

Giulia AscariFrank PeelmanPietro FarinelliToon RosseelNina LambrechtsKirsten A. WunderlichMatias WagnerKonstantinos NikopoulosPernille MartensIrina Balikova et al.

A1 Journal Article in HUMAN MUTATION

The majority of autosomal recessive nanophthalmos and posterior microphthalmia can be attributed to biallelic sequence and structural variants in MFRP and PRSS56

Basamat Almoallem MohammedGavin ArnoJulie De ZaeytijdHannah VerdinIrina BalikovaIngele CasteelsThomy de RavelSarah HullMartina SuzaniAnne Destrée et al.

A1 Journal Article in SCIENTIFIC REPORTS

VEGFA variants as prognostic markers for the retinopathy in pseudoxanthoma elasticum

Eva De VilderMohammad Jakir HosenLudovic MartinJulie De ZaeytijdBart LeroyJean-Marc EbranPaul CouckeAnne De PaepeOlivier Vanakker

A1 Journal Article in CLINICAL GENETICS

Vitreous hemorrhage as presenting sign of retinal arteriovenous malformation

Geraldine AccouFanny NerinckxBart LeroyJulie De Zaeytijd

A2 Journal Article in CASE REPORTS IN OPHTHALMOLOGICAL MEDICINE

2019

ABCA4-associated disease as a model for missing heritability in autosomal recessive disorders : novel noncoding splice, cis-regulatory, structural, and recurrent hypomorphic variants

Miriam BauwensAlejandro GarantoRiccardo SangermanoSarah NaessensNicole WeisschuhJulie De ZaeytijdMubeen KhanFrançoise SadlerIrina BalikovaCaroline Van Cauwenbergh et al.

A1 Journal Article in GENETICS IN MEDICINE

Abetalipoproteinemia from previously unreported gene mutations

Xavier-Philippe AersBart LeroyJoep C DefescheSamiah Shadid

A1 Journal Article in ANNALS OF INTERNAL MEDICINE

Antisense oligonucleotide-based correction of deep-intronic ABCA4 splice mutations using patient-derived fibroblasts and photoreceptor precursor cells

Sarah NaessensRob W CollinFrauke CoppietersMiriam BauwensLonneke DuijkersIrina BalikovaBart LeroyElfride De BaereAlex Garanto

Biallelic sequence and structural variants in RAX2 are a novel cause for autosomal recessive inherited retinal disease

Stijn Van de SompeleClaire SmithMarianthi KaraliMarta CortonKristof Van SchilFrank PeelmanTimothy CherryToon RosseelHannah VerdinJulien Derolez et al.

A1 Journal Article in GENETICS IN MEDICINE

Coding and non-coding structural variants of ABCA4 contribute to the missing heritability in Stargardt disease, a prevalent inherited retinal disease

Miriam BauwensSarah NaessensCaroline Van CauwenberghThalia Van LaethemSarah De JaegereIrina BalikovaYves SznajerJulie De ZaeytijdBart LeroyElfride De Baere

Effect of an intravitreal antisense oligonucleotide on vision in Leber congenital amaurosis due to a photoreceptor cilium defect

Artur V. CideciyanSamuel G. JacobsonArlene V. DrackAllen C. HoJason CharngAlexandra V. GarafaloAlejandro J. RomanAlexander SumarokaIan C. HanMaria D. Hochstedler et al.

A1 Journal Article in NATURE MEDICINE

Exome-based RetNet panel analysis in a Belgian cohort with inherited retinal disease (IRD) expands the molecular and phenotypic spectrum of recently identified IRD genes

Stijn Van de SompeleKristof Van SchilCaroline Van CauwenberghToon RosseelSarah De JaegereThalia Van LaethemIrina BalikovaBart LeroyFrauke CoppietersElfride De Baere

Expanding the CPAMD8-associated eye disease spectrum to primary congenital glaucoma : lessons learned from a large consanguineous family with pseudodominance

Hannah VerdinIrina BalikovaJulie Van De VeldePhilippe KestelynBart LeroyElfride De Baere

Expanding the differential diagnosis of primary congenital glaucoma : molecular lessons learned from a large consanguineous family

Hannah VerdinIrina BalikovaJulie Van De VeldePhilippe KestelynBart LeroyElfride De Baere

Expansion of the role and functional characterization of a missense variant in CEP78 associated with cone-rod dystrophy and hearing loss

Giulia AscariFrank PeelmanPietro FarinelliToon RosseelNina LambrechtsIrina BalikovaLara DeryckeGabriële HoltappelsOlga KryskoThalia Van Laethem et al.

Expansion of the role and functional characterization of a missense variant in CEP78 associated with cone-rod dystrophy and hearing loss

Giulia AscariFrank PeelmanNina LambrechtsThalia Van LaethemToon RosseelPietro FarinelliDavid CreytensIrina BalikovaJan GerrisClaus Bachert et al.

Long-term follow-up of retinal degenerations associated with LRAT mutations and their comparability to phenotypes associated with RPE65 mutations

Mays TalibMary J. van SchooneveldRoos J. G. van DuurenCaroline Van CauwenberghJacoline B. ten BrinkElfride De BaereRalph J. FlorijnNicoline E. Schalij-DelfosBart LeroyArthur A. Bergen et al.

A1 Journal Article in TRANSLATIONAL VISION SCIENCE & TECHNOLOGY

Ocular involvement in systemic sclerosis : a systematic literature review, it's not all scleroderma that meets the eye

Elke O. KrepsCharlotte CartonMaurizio CutoloCarlo Alberto CutoloAmber VanhaeckeBart LeroyVanessa Smith

A1 Journal Article in SEMINARS IN ARTHRITIS AND RHEUMATISM

The N‐terminal p.(Ser38Cys) TIMP3 mutation underlying Sorsby fundus dystrophy is a founder mutation disrupting an intramolecular disulfide bond

Sarah NaessensJulie De ZaeytijdDelfien SyxRoosmarijn VandenbrouckeFrédéric SmeetsCaroline Van CauwenberghBart LeroyFrank PeelmanFrauke Coppieters

A1 Journal Article in HUMAN MUTATION

Where are the missing gene defects in inherited retinal disorders? : intronic and synonymous variants contribute at least to 4% of CACNA1F-mediated inherited retinal disorders

Christina ZeitzChristelle MichielsMarion NeuilléChristoph FriedburgChristel CondroyerFiona BoyardAline AntonioNassima BouzidiDiana MilicevicRobin Veaux et al.

A1 Journal Article in HUMAN MUTATION

2018

Antisense oligonucleotide-based correction of deep-intronic ABCA4 splice mutations using patient-derived fibroblasts and photoreceptor precursor cells

Sarah NaessensAlejandro GarantoFrauke CoppietersMiriam BauwensIrina BalikovaBart LeroySilvia AlbertRob CollinElfride De Baere

Antisense oligonucleotide-based splice correction of two neighboring deep-intronic ABCA4 mutations causing Stargardt disease

Sarah NaessensAlejandro GarantoMiriam BauwensRiccardo SangermanoIrina BalikovaBart LeroyFrans CremersElfride De BaereRob Collin

Biallelic loss-of-function variants in RAX2, encoding a homeobox-containing Rax transcription factor, cause autosomal recessive inherited retinal disease

Stijn Van de SompeleClaire SmithMarianthi KaraliMarta CortonKristof Van SchilFrank PeelmanTimothy CherryToon RosseelHannah VerdinJulien Derolez et al.

Clinical characterization of 66 patients with congenital retinal disease due to the deep-intronic c.2991+1655A>G mutation in CEP290

Dyon ValkenburgCaroline Van CauwenberghBirgit LorenzMies M van GenderenMette BertelsenJan-Willem R PottFrauke CoppietersJulie De ZaeytijdAlberta AHJ ThiadensCaroline CW Klaver et al.

A1 Journal Article in INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE

Exome-based RetNet panel analysis in a Belgian cohort with inherited retinal disease expands the molecular and phenotypic spectrum of recently identified iRD genes

Stijn Van de SompeleKristof Van SchilCaroline Van CauwenberghToon RosseelSarah De JaegereThalia Van LaethemIrina BalikovaBart LeroyElfride De BaereFrauke Coppieters

Functional characterization of N-terminal TIMP3 mutation underlying Sorsby fundus dystrophy in Belgian and French pedigrees

Sarah NaessensDelfien SyxFrank PeelmanRoosmarijn VandenbrouckeSarah De JaegereFrédéric SmeetsJulie De ZaeytijdBart LeroyElfride De BaereFrauke Coppieters

Is oral moxifloxacin associated with bilateral acute iris transillumination?

Elke O. KrepsKathy HondeghemAlbert AugustinusCELINE SYSSara Van de VeireBart LeroyPieter-Paul Schauwvlieghe

A1 Journal Article in ACTA OPHTHALMOLOGICA

Leveraging consanguinity in inherited retinal diseases uncovers missing genetic variation : rare novel disease genes and a multitude of novel variants in known disease genes

Kristof Van SchilSarah NaessensStijn Van de SompeleNuria Gruartmoner RouraMarjolein CarronKatharina DannhausenSarah De JaegereMaxim VanpanteghemFrauke CoppietersMarcus Karlstetter et al.

Mapping the genomic landscape of inherited retinal disease genes prioritizes genes prone to coding and noncoding copy-number variations

Kristof Van SchilSarah NaessensStijn Van de SompeleMarjolein CarronAlexander AslanidisCaroline Van CauwenberghAnja Kathrin MayerMattias Van HeetveldeMiriam BauwensHannah Verdin et al.

A1 Journal Article in GENETICS IN MEDICINE

Missing heritability in inherited blindness : ABCA4-associated disease as a model

Miriam BauwensElfride De BaereBart Leroy

Mutations in the gene PDE6C encoding the catalytic subunit of the cone photoreceptor phosphodiesterase in patients with achromatopsia

Nicole WeisschuhKatarina StinglIsabelle AudoSaskia BiskupBeatrice BocquetKari BranhamMarie S. BurstedtElfride De BaereMeindert J. De VriesIrina Golovleva et al.

U Journal Article in HUMAN MUTATION

Pathogenic variants in the ABCC6 gene are associated with an increased risk for ischemic stroke

Eva De VilderSTEFANIE CARDOENMohammad J HosenOlivier Le SauxJulie De ZaeytijdBart LeroyJacques De ReuckPaul CouckeAnne De PaepeDimitri Hemelsoet et al.

A1 Journal Article in BRAIN PATHOLOGY

The spectrum of structural and functional abnormalities in female carriers of pathogenic variants in the RPGR gene

Mays TalibMary J van SchooneveldCaroline Van CauwenberghJan WijnholdsJacoline B. ten BrinkRalph J. FlorijnNicoline E. Schalij-DelfosGislin DagnelieMaria M. van GenderenElfride De Baere et al.

A1 Journal Article in INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE

2017

Antisense oligonucleotide-based splice correction of two neighboring deep-intronic ABCA4 mutations causing Stargardt disease

Sarah NaessensAlejandro GarantoMiriam BauwensRiccardo SangermanoIrina BalikovaBart LeroyFrans CremersElfride De BaereRob Collin

Antisense oligonucleotide-based splice correction of two neighboring deep-intronic ABCA4 mutations causing Stargardt disease

Sarah NaessensAlejandro GarantoMiriam BauwensRiccardo SangermanoIrina BalikovaBart LeroyFrans CremersElfride De BaereRob Collin

Diplopia as presenting sign of Turcot syndrome

Virginie NinclausSOPHIE WALRAEDTEdward BaertGenevieve LaureysBart LeroyJulie De Zaeytijd

A1 Journal Article in INTERNATIONAL OPHTHALMOLOGY

Early-onset primary antibody deficiency resembling common variable immunodeficiency challenges the diagnosis of Wiedeman-Steiner and Roifman syndromes

Delfien BogaertMelissa DullaersHye Sun KuehnBart LeroyJulie E NiemelaHans De WildeSarah De SchryverMarieke De BruyneFrauke CoppietersBart Lambrecht et al.

A1 Journal Article in SCIENTIFIC REPORTS

Efficacy of tumour necrosis factor inhibitors in peripheral ulcerative keratitis in Granulomatosis with polyangiitis

Ewout VerlyJORIS DE KOCKBart LeroyCELINE SYSIlse De Schryver

Hidden genetic variation in Stargardt disease : novel copy number variations, cis-regulatory and deep-intronic splice variants within the ABCA4 locus

Miriam BauwensRiccardo SangermanoTimothy CherryCaroline Van CauwenberghJose Luis Gomez-SkarmetaNicole WeisschuhSusanne KohlBart LeroyFrans CremersElfride De Baere

Homozygosity mapping-guided exome sequencing in LCA patients of consanguineous origin reveals mutations in known genes and a novel candidate gene

Basamat Almoallem MohammedKristof Van SchilLaila JeddawiBart LeroyFrauke CoppietersElfride De Baere

Homozygosity mapping-guided exome sequencing in LCA patients of consanguineous origin reveals mutations in known genes and a novel candidate gene

Basamat Almoallem MohammedKristof Van SchilLaila JeddawiBart LeroyFrauke CoppietersElfride De Baere

Leveraging consanguinity in inherited retinal diseases uncovers missing genetic variation : rare novel disease genes and a multitude of novel variants in known disease genes

Kristof Van SchilSarah NaessensStijn Van de SompeleNuria Gruartmoner RouraMarjolein CarronKatharina DannhausenSarah De JaegereMaxim VanpanteghemFrauke CoppietersMarcus Karlstetter et al.

Mapping the genomic landscape of inherited retinal disease genes prioritizes genes prone to coding and noncoding copy-number variations

Kristof Van SchilSarah NaessensStijn Van de SompeleMarjolein CarronAlexander AslanidisCaroline Van CauwenberghAnja Kathrin MayerMattias Van HeetveldeMiriam BauwensHannah Verdin et al.

Mapping the genomic landscape of inherited retinal disease genes prioritizes genes prone to coding and noncoding copy-number variations

Kristof Van SchilSarah NaessensStijn Van de SompeleMarjolein CarronAlexander AslanidisCaroline Van CauwenberghAnne Kathrin MayerMattias Van HeetveldeMiriam BauwensHannah Verdin et al.

Missense mutation in CEP78 in a family with cone-rod dystrophy, sensorineural hearing loss, obesity and subfertility

Giulia AscariStijn Van de SompeleLara DeryckeGabriële HoltappelsOlga KryskoJo Van DorpeDavid CreytensThalia Van LaethemIrina BalikovaJan Gerris et al.

Missense mutation in CEP78 in a family with cone-rod dystrophy, sensorineural hearing loss, obesity and subfertility.

Giulia AscariStijn Van de SompeleLara DeryckeGabriële HoltappelsOlga KryskoJo Van DorpeDavid CreytensThalia Van LaethemIrina BalikovaJan Gerris et al.

Mutations in splicing factor genes are a major cause of autosomal dominant retinitis pigmentosa in Belgian families

Caroline Van CauwenberghFrauke CoppietersDimitri RoelsSarah De JaegereHelena FliptsJulie De ZaeytijdSOPHIE WALRAEDTCharlotte ClaesErik FransenGuy Van Camp et al.

A1 Journal Article in PLOS ONE

NXT-EYE : integrative strategy to elucidate hidden genetic variation in inherited retinal diseases

Kristof Van SchilElfride De BaereBart Leroy

Novel genes and mechanisms underlying autosomal dominant retinitis pigmentosa and allied retinal dystrophies

Caroline Van CauwenberghElfride De BaereBart LeroyFrauke Coppieters

Unraveling the molecular basis genetically heterogeneous developmental eye disorders

Basamat Almoallem MohammedElfride De BaerePhilippe KestelynBart Leroy

Who stole my cholesterol? : a case report of night blindness and virtually absent serum betalipoproteins

Xavier-Philippe AersBart LeroySamiah Shadid

arrEYE : a customized platform for high-resolution copy number analysis of coding and noncoding regions of known and candidate retinal dystrophy genes and retinal noncoding RNAs

Caroline Van CauwenberghKristof Van SchilRobrecht CannoodtMiriam BauwensThalia Van LaethemSarah De JaegereWouter SteyaertTom SanteBjörn MentenBart Leroy et al.

A1 Journal Article in GENETICS IN MEDICINE

2016

Association of variants in the VEGFA (Vascular Endothelial Growth Factor) gene with severe retinopathy in pseudoxanthoma elasticum: implications for molecular screening, counseling and management

eva De VilderMohammad Jakir HosenLudovic MartinJulie De ZaeytijdBart LeroyJean-Marc EbranPaul CouckeAnne De PaepeOlivier Vanakker

Autosomal recessive retinitis pigmentosa with homozygous rhodopsin mutation E150K and non-coding cis-regulatory variants in CRX-binding regions of SAMD7

Kristof Van SchilMarcus KarlstetterAlexander AslanidisKatharina DannhausenMaleeha AzamRaheel QamarBart LeroyFanny DepasseThomas LangmannElfride De Baere

A1 Journal Article in SCIENTIFIC REPORTS

Biallelic mutations in GNB3 cause a unique form of autosomal-recessive congenital stationary night blindness

Ajoy VincentIsabelle AudoErika TavaresJason T MaynesAnupreet TumberThomas WrightShuning LiChristelle MichielsChristel CondroyerHeather MacDonald et al.

A1 Journal Article in AMERICAN JOURNAL OF HUMAN GENETICS

Claudin 19-based familial hypomagnesemia with hypercalciuria and nephrocalcinosis in a sibling pair

Sheena SharmaEmily PlaceKatherine LordBart LeroyMarni J FalkMadhura Pradhan

A1 Journal Article in CLINICAL NEPHROLOGY

Coding and non-coding copy number variations explaining unsolved retinal dystrophies : role of genomic architectural features and underlying mechanisms

Kristof Van SchilSarah NaessensStijn Van de SompeleMiriam BauwensHannah VerdinCaroline Van CauwenberghAnja Kathrin MayerSusanne KohlBart LeroyElfride De Baere

Coding and non-coding copy number variations explaining unsolved retinal dystrophies : role of genomic architectural features and underlying mechanisms

Kristof Van SchilSarah NaessensStijn Van de SompeleMiriam BauwensHannah VerdinCaroline Van CauwenberghAnja Kathrin MayerSusanne KohlBart LeroyElfride De Baere

Coding and non-coding copy number variations explaining unsolved retinal dystrophies : role of genomic architectural features and underlying mechanisms

Kristof Van SchilSarah NaessensStijn Van de SompeleMiriam BauwensHannah VerdinCaroline Van CauwenberghAnja Kathrin MayerSusanne KohlBart LeroyElfride De Baere

Coding and non-coding copy number variations explaining unsolved retinal dystrophies : role of genomic architectural features and underlying mechanisms

Kristof Van SchilSarah NaessensStijn Van de SompeleMiriam BauwensHannah VerdinCaroline Van CauwenberghAnja Kathrin MayerSusanne KohlBart LeroyElfride De Baere

De novo intrachromosomal gene conversion from OPN1MW to OPN1LW in the male germline results in Blue Cone Monochromacy

Elena Buena-AtienzaKlaus RütherBritta BaumannRichard BergholzDavid BirchElfride De BaereHelene DollfusMarie T GreallyPeter GustavssonChristian P Hamel et al.

A1 Journal Article in SCIENTIFIC REPORTS

Detailed clinical phenotyping of oxalate maculopathy in primary hyperoxaluria type 1 and review of the literature

THIERRY DERVEAUXPatricia DelbekeSOPHIE WALRAEDTAnn RaesSteven Van LaeckeBart LeroyJulie De Zaeytijd

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

Do not turn a blind eye to alkyl nitrite (poppers)!

Nathalie OG BralMarina MarinkovicBart LeroyKristien HoornaertMichel van LintMarcel PM ten Tusscher

A1 Journal Article in ACTA OPHTHALMOLOGICA

Elucidation of the molecular cause underlying Sorsby fundus dystrophy in a large Belgian pedigree : N-terminal TIMP3 mutation 15 years later

Sarah NaessensDelfien SyxRoosmarijn VandenbrouckeBrecht GuillemynSarah De JaegereBart LeroyElfride De BaereFrauke Coppieters

Elucidation of the molecular cause underlying Sorsby fundus dystrophy in a large Belgian pedigree : N-terminal TIMP3 mutation 15 years later

Sarah NaessensDelfien SyxRoosmarijn VandenbrouckeBrecht GuillemynSarah De JaegereBart LeroyElfride De BaereFrauke Coppieters

Elucidation of the molecular cause underlying Sorsby fundus dystrophy in a large Belgian pedigree : functional characterization of N-terminal TIMP3 mutation

Sarah NaessensDelfien SyxRoosmarijn VandenbrouckeBrecht GuillemynSarah De JaegereBart LeroyElfride De BaereFrauke Coppieters

Functional characterization of novel deleterious MFSD8 mutations found by whole exome sequencing in early-onset isolated maculopathy

Miriam BauwensNicole WeisschuhChantal Ceuterick-de GroteRudy Van CosterBart LeroyElfride De Baere

Functional characterization of novel deleterious MFSD8 mutations found by whole exome sequencing in early-onset isolated maculopathy

Miriam BauwensNicole WeisschuhChantal Ceuterick-de GroteRudy Van CosterBart LeroyElfride De Baere

Functional characterization of novel deleterious MFSD8 mutations found by whole exome sequencing in early-onset isolated maculopathy

Miriam BauwensNicole WeisschuhChantal Ceuterick-de GroteRudy Van CosterBart LeroyElfride De Baere

Hidden genetic variation in retinal dystrophies : exploring the contribution of copy number variations

Kristof Van SchilBart LeroyElfride De Baere

Identification and characterization of RCBTB1 as new disease gene for isolated and syndromic retinal dystrophy

Giulia AscariFrauke CoppietersK DannhausenM KarlstetterK NikopoulosM XuMiriam BauwensMarieke De BruyneThalia Van LaethemF Meire et al.

Isolated and syndromic retinal dystrophy caused by biallelic mutations in RCBTB1 and possible implication in the ubiquitination pathway

Giulia AscariFrauke CoppietersK DannhausenM KarlstetterK NikopoulosM XuMiriam BauwensMarieke De BruyneThalia Van LaethemF Meire et al.

Isolated and syndromic retinal dystrophy caused by biallelic mutations in RCBTB1, a gene implicated in ubiquitination

Frauke CoppietersGiulia AscariKatharina DannhausenKonstantinos NikopoulosFrank PeelmanMarcus KarlstetterMingchu XuCécile BrachetIsabelle MeunierMiltiadis K Tsilimbaris et al.

A1 Journal Article in AMERICAN JOURNAL OF HUMAN GENETICS

Isolated and syndromic retinal dystrophy caused by biallelic mutations in RCBTB1, implicated in ubiquitination.

Giulia AscariFrauke CoppietersK DannhausenM KarlstetterK NikopoulosM XuMiriam BauwensMarieke De BruyneThalia Van LaethemF Meire et al.

Molecular study of the MFRP gene in patients with posterior microphthalmia (MCOP) supports its role in autosomal recessive MCOP pathogenesis

Basamat Almoallem MohammedGavin ArnoJulie De ZaeytijdSarah HullMartina SuzaniThomy JL de RavelAndrew WebsterBart LeroyTony MooreElfride De Baere

Molecular study of the MFRP gene in patients with posterior microphthalmia (MCOP) supports its role in autosomal recessive MCOP pathogenesis

Basamat Almoallem MohammedGavin ArnoJulie De ZaeytijdSarah HullMartina SuzaniThomy JL de RavelAndrew WebsterBart LeroyTony MooreElfride De Baere

Molecular study of the MFRP gene in patients with posterior microphthalmia (MCOP) supports its role in autosomal recessive MCOP pathogenesis

Basamat Almoallem MohammedGavin ArnoJulie De ZaeytijdSarah HullMartina SuzaniThomy JL de RavelAndrew WebsterBart LeroyTony MooreElfride De Baere

Molecular study of the MFRP gene in patients with posterior microphthalmia (MCOP) supports its role in autosomal recessive MCOP pathogenesis

Basamat Almoallem MohammedGavin ArnoJulie De ZaeytijdSarah HullMartina SuzaniThomy JL de RavelAndrew WebsterBart LeroyTony MooreElfride De Baere

Mutations in CTNNA1 cause butterfly-shaped pigment dystrophy and perturbed retinal pigment epithelium integrity

Nicole TM SaksensMark P KrebsFrederieke E Schoenmaker-KollerWanda HicksMinzhong YuLanying ShiLucy RoweGayle B CollinJeremy R CharetteStef J Letteboer et al.

A1 Journal Article in NATURE GENETICS

Recessive RHO mutation E150K and SAMD7 regulatory variants in a consanguineous family with retinitis pigmentosa

Kristof Van SchilMarcus KarlstetterAlexander AslanidisBart LeroyFrauke CoppietersFanny DepasseThomas LangmannElfride De Baere

Recessive RHO mutation E150K and SAMD7 regulatory variants in a consanguineous family with retinitis pigmentosa

Kristof Van SchilMarcus KarlstetterAlexander AslanidisBart LeroyFrauke CoppietersFanny DepasseThomas LangmannElfride De Baere

Visual prognosis in USH2A-associated retinitis pigmentosa is worse for patients with Usher syndrome type IIa than for those with nonsyndromic retinitis pigmentosa

Laurence HM PierracheBas P HartelErwin van WijkMagda A Meester-SmoorFrans PM CremersElfride De BaereJulie De ZaeytijdMary J van SchooneveldCor WRJ CremersGislin Dagnelie et al.

A1 Journal Article in OPHTHALMOLOGY

2015

A nonsense mutation in FAM161A is a recurrent founder allele in Dutch and Belgian individuals with autosomal recessive retinitis pigmentosa

Kristof Van SchilB Jeroen KleveringBart LeroyJan Willem R PottDikla Bandah-RozenfeldMarijke N Zonneveld-VrielingDror SharonAnneke I den HollanderFrans PM CremersElfride De Baere et al.

A1 Journal Article in INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE

Advancing Therapeutic Strategies for Inherited Retinal Degeneration: Recommendations From the Monaciano Symposium

Debra A ThompsonRobin R AliEyal BaninKari E BranhamJohn G FlanneryDavid M GammWilliam W HauswirthJohn R HeckenlivelyAlessandro IannacconeK Thiran Jayasundera et al.

A1 Journal Article in INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE

An augmented ABCA4 screen targeting non-coding regions reveals a deep intronic founder causal variant in Belgian Stargardt patients

Miriam BauwensJulie De ZaeytijdNicole WeisschuhSusanne KohlThomy de Ravel de l'ArgentièreMarjan De RademaekerBart LoeysFrauke CoppietersBart LeroyElfride De Baere

An augmented ABCA4 screen targeting non-coding regions reveals a deep intronic founder causal variant in Belgian Stargardt patients

Miriam BauwensJulie De ZaeytijdNicole WeisschuhSusanne KohlThomy de Ravel de l'ArgentièreMarjan De RademaekerBart LoeysFrauke CoppietersBart LeroyElfride De Baere

An augmented ABCA4 screen targeting non-coding regions reveals a deep intronic founder causal variant in Belgian Stargardt patients

Miriam BauwensJulie De ZaeytijdNicole WeisschuhSusanne KohlThomy de Ravel de l'ArgentièreMarjan De RademaekerBart LoeysFrauke CoppietersBart LeroyElfride De Baere

An augmented ABCA4 screen targeting non-coding regions reveals a deep intronic founder causal variant in Belgian Stargardt patients

Miriam BauwensJulie De ZaeytijdNicole WeisschuhSusanne KohlThomy de Ravel de l'ArgentièreMarjan De RademaekerBart LoeysFrauke CoppietersBart LeroyElfride De Baere

An augmented ABCA4 screen targeting non-coding regions reveals a deep intronic founder causal variant in Belgian Stargardt patients

Miriam BauwensJulie De ZaeytijdNicole WeisschuhSusanne KohlThomy de Ravel de l'ArgentièreMarjan De RademaekerBart LoeysFrauke CoppietersBart LeroyElfride De Baere

An augmented ABCA4 screen targeting noncoding regions reveals a deep intronic founder variant in Belgian Stargardt patients

Miriam BauwensJulie De ZaeytijdNicole WeisschuhSusanne KohlFrançoise MeireKarin DahanFanny DepasseSarah De JaegereThomy De RavelMarjan De Rademaeker et al.

A1 Journal Article in HUMAN MUTATION

Anti-VEGF treatment in Pseudoxanthoma elasticum: preliminary results of a long-term ophthalmological follow-up

eva De VilderJulie De ZaeytijdBart LeroyOlivier Vanakker

Biallelic mutations in the autophagy regulator DRAM2 cause retinal dystrophy with early macular involvement

Mohammed E El-AsragPanagiotis I SergouniotisMartin McKibbinVincent PlagnolEamonn SheridanNaushin WaseemZakia AbdelhamedDeclan McKeefryKristof Van SchilJames A Poulter et al.

A1 Journal Article in AMERICAN JOURNAL OF HUMAN GENETICS

Cobalamin C deficiency shows a rapidly progressing maculopathy with severe photoreceptor and Ganglion cell loss

L BonafedeCH FiciciogluL SerranoG HanJI MorganMD MillsBJ ForbesSL DavidsonG BinenbaumPB Kaplan et al.

A1 Journal Article in INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE

Colour vision in Stargardt disease

Tine VandenbrouckeRonald BuylJulie De ZaeytijdMiriam BauwensAndré UvijlsElfride De BaereBart Leroy

A1 Journal Article in OPHTHALMIC RESEARCH

Disease expression in autosomal recessive retinal dystrophy associated with mutations in the DRAM2 gene

Panagiotis I SergouniotisMartin McKibbinAnthony G RobsonHanno J BolzElfride De BaerePhilipp L MüllerRaoul HellerMohammed E El-AsragKristof Van SchilVincent Plagnol et al.

A1 Journal Article in INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE

Exploring the role of non-coding variation in hereditary blindness : Stargardt disease as a model

Miriam BauwensJulie De ZaeytijdNicole WeisschuhSusanne KohlThomy de Ravel de l'ArgentièreMarjan De RademaekerBart LoeysFrauke CoppietersBart LeroyElfride De Baere

Exploring the role of non-coding variation in hereditary blindness : Stargardt disease as a model

Miriam BauwensJulie De ZaeytijdNicole WeisschuhSusanne KohlThomy de Ravel de l'ArgentièreMarjan De RademaekerBart LoeysFrauke CoppietersBart LeroyElfride De Baere

Hidden genetic variation in LCA9-associated congenital blindness explained by 5′UTR mutations and copy-number variations of NMNAT1

Frauke CoppietersAnne Laure TodeschiniTakuro FujimakiAnnelot BaertMarieke De BruyneCaroline Van CauwenberghHannah VerdinMiriam BauwensMaté OngenaertMineo Kondo et al.

A1 Journal Article in HUMAN MUTATION

Homozygous deletion of glutamate receptor gene GRID2 causes early-onset cerebellar ataxia and retinal dystrophy

Kristof Van SchilMarcus KarlstetterAlexander AslanidisBart LeroyFrauke CoppietersFanny DepasseThomas LangmannElfride De Baere

Mutations in IFT172 cause isolated retinal degeneration and Bardet-Biedl syndrome

Kinga M BujakowskaQi ZhangAnna M SiemiatkowskaQin LiuEmily PlaceMarni J FalkMark ConsugarMarie-Elise LancelotAline AntonioChristine Lonjou et al.

A1 Journal Article in HUMAN MOLECULAR GENETICS

Novel FRMD7 mutations and genomic rearrangement expand the molecular pathogenesis of X-linked idiopathic infantile nystagmus

Basamat Almoallem MohammedMiriam BauwensSOPHIE WALRAEDTPatricia DelbekeJulie De ZaeytijdBart LeroyElfride De Baere

Novel FRMD7 mutations and genomic rearrangement expand the molecular pathogenesis of X-linked idiopathic infantile nystagmus

Basamat Almoallem MohammedMiriam BauwensSOPHIE WALRAEDTPatricia DelbekeJulie De ZaeytijdBart LeroyElfride De Baere

Novel FRMD7 mutations and genomic rearrangement expand the molecular pathogenesis of X-linked idiopathic infantile nystagmus

Basamat Almoallem MohammedMiriam BauwensSOPHIE WALRAEDTPatricia DelbekeJulie De ZaeytijdPhilippe KestelynFrançoise MeireSandra JanssensCaroline Van CauwenberghHannah Verdin et al.

A1 Journal Article in INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE

Novel insights into the molecular pathogenesis of CYP4V2-associated Bietti's retinal dystrophy

Galuh DN AstutiVincent SunMiriam BauwensDitta ZoborBart LeroyAmer OmarBernhard JurkliesIrma LopezHuanan RenVolkan Yazar et al.

A1 Journal Article in MOLECULAR GENETICS & GENOMIC MEDICINE

Prominent Mittendorf spot

Elke O. KrepsPIETER LAMBRECHTBart LeroyKristien Hoornaert

Editorial material

Recessive RHO mutation E150K and SAMD7 regulatory variants in a consanguineous family with retinitis pigmentosa

Kristof Van SchilMarcus KarlstetterAlexander AslanidisBart LeroyFrauke CoppietersFanny DepasseThomas LangmannElfride De Baere

Recessive RHO mutation E150K and SAMD7 regulatory variants in a consanguineous family with retinitis pigmentosa

Kristof Van SchilMarcus KarlstetterAlexander AslanidisBart LeroyFrauke CoppietersFanny DepasseThomas LangmannElfride De Baere

Recessive RHO mutation E150K and SAMD7 regulatory variants in a consanguineous family with retinitis pigmentosa

Kristof Van SchilMarcus KarlstetterAlexander AslanidisBart LeroyFrauke CoppietersFanny DepasseThomas LangmannElfride De Baere

Recessive RHO mutation E150K and SAMD7 regulatory variants in a consanguineous family with retinitis pigmentosa

Kristof Van SchilMarcus KarlstetterAlexander AslanidisBart LeroyFrauke CoppietersFanny DepasseThomas LangmannElfride De Baere

Ronald JA WandersHans R WaterhamBart Leroy

Bookchapter in GeneReviews®

Retinal development in infants and young children with achromatopsia

Helena LeeRavi PurohitViral ShethRebecca J McLeanSusanne KohlBart LeroyVenki SundaramMichel MichaelidesFrank A ProudlockIrene Gottlob

Editorial material

SF3B2, a novel candidate gene for autosomal dominant retinitis pigmentosa, encodes a component of the U2 small nuclear ribonucleoprotein

Caroline Van CauwenberghKris VleminckxFrauke CoppietersMarcus KarlstetterThomas LangmannGael ManesChristian P HamelBart LeroyElfride De Baere

SF3B2, a novel candidate gene for autosomal dominant retinitis pigmentosa, encodes a component of the U2 small nuclear ribonucleoprotein

Caroline Van CauwenberghKris VleminckxFrauke CoppietersMarcus KarlstetterThomas LangmannGael ManesChristian P HamelBart LeroyElfride De Baere

SF3B2, a novel candidate gene for autosomal dominant retinitis pigmentosa, encodes a component of the U2 small nuclear ribonucleoprotein

Caroline Van CauwenberghMarcus KarlstetterKris VleminckxGael ManesThomas LangmannChristian HamelBart LeroyFrauke CoppietersElfride De Baere

SF3B2, a novel candidate gene for autosomal dominant retinitis pigmentosa, encodes a component of the U2 small nuclear ribonucleoprotein

Caroline Van CauwenberghKris VleminckxFrauke CoppietersMarcus KarlstetterThomas LangmannGael ManesChristian P HamelBart LeroyElfride De Baere

2014

Abnormal retinal development associated with FRMD7 mutations

Mervyn G ThomasMoira CrosierSusan LindsayAnil KumarMasasuke ArakiBart LeroyRebecca J McLeanViral ShethGail MaconachieShery Thomas et al.

A1 Journal Article in HUMAN MOLECULAR GENETICS

Copy number analysis of ABCA4 in Belgian patients with Stargardt reveals exon 20-22 deletion

Miriam BauwensSarah De JaegereSteve LefeverBarbara D'haeneFilip PattynLies HoefslootThomy de Ravel de l'ArgentièreBart LeroyElfride De BaereFrauke Coppieters

Copy number analysis of ABCA4 in Belgian patients with Stargardt reveals exon 20-22 deletion

Miriam BauwensSarah De JaegereSteve LefeverBarbara D'haeneFilip PattynLies HoefslootThomy de Ravel de l'ArgentièreBart LeroyElfride De BaereFrauke Coppieters

Exploring the role of a novel disease gene EML4 in autosomal recessive retinitis pigmentosa

Kristof Van SchilBart LeroyElfride De Baere

Exploring the role of non-coding variation in hereditary blindness : Stargardt disease as a model

Miriam BauwensFrauke CoppietersThomy de Ravel de l'ArgentièreIngele CasteelsFanny DepasseBart LeroyElfride De Baere

Identity-by-descent-guided mutation analysis and exome sequencing in consanguineous families reveals unusual clinical and molecular findings in retinal dystrophy

Frauke CoppietersKristof Van SchilMiriam BauwensHannah VerdinAnnelies De JaegherDelfien SyxTom SanteSteve LefeverNouha Bouayed AbdelmoulaFanny Depasse et al.

A1 Journal Article in GENETICS IN MEDICINE

Novel and known FRMD7 mutations and copy number variation in Belgian patients with X-linked idiopathic infantile nystagmus

Basamat Almoallem MohammedMiriam BauwensSOPHIE WALRAEDTPatricia DelbekeJulie De ZaeytijdBart LeroyElfride De Baere

Novel and known FRMD7 mutations and copy number variation in Belgian patients with X-linked idiopathic infantile nystagmus

Basamat Almoallem MohammedMiriam BauwensSophie WalraedtPatricia DelbekeHannah VerdinJulie De ZaeytijdBart LeroyElfride De Baere

Novel and known FRMD7 mutations and copy number variation in Belgian patients with X-linked idiopathic infantile nystagmus

Basamat Almoallem MohammedMiriam BauwensSophie WalraedtPatricia DelbekeJulie De ZaeytijdBart LeroyElfride De Baere

SLC24A5 Mutations are associated with non-syndromic oculocutaneous albinism

Fanny Morice-PicardEulalie LasseauxStéphane FrançoisDelphine SimonCaroline RooryckEric BiethEstelle ColinDominique BonneauHubert JournelSOPHIE WALRAEDT et al.

A1 Journal Article in JOURNAL OF INVESTIGATIVE DERMATOLOGY

Spectrum of Cav1.4 dysfunction in congenital stationary night blindness type 2

Verena BurtscherKlaus W SchickerElena NovikovaBirgit PöhnThomas StocknerChristof KuglerAnamika SinghChristina ZeitzMarie-Elise LancelotIsabelle Audo et al.

A1 Journal Article in BIOCHIMICA ET BIOPHYSICA ACTA-BIOMEMBRANES

2013

A dual approach for comprehensive genetic testing of ABCA4 in Stargardt disease

Miriam BauwensCaroline Van CauwenberghSarah De JaegereSteve LefeverBarbara D'haeneThomy de Ravel de l'ArgentièreBart LeroyElfride De BaereFrauke Coppieters

A dual approach for comprehensive genetic testing of ABCA4 in Stargardt disease

Miriam BauwensCaroline Van CauwenberghSarah De JaegereSteve LefeverBarbara D'haeneFilip PattynThomy de Ravel de l'ArgentièreBart LeroyElfride De BaereFrauke Coppieters

A dual approach for comprehensive genetic testing of ABCA4 in Stargardt disease

Miriam BauwensCaroline Van CauwenberghSarah De JaegereSteve LefeverBarbara D'haeneFilip PattynBart LeroyElfride De BaereFrauke Coppieters

A dual approach for comprehensive genetic testing of ABCA4 in Stargardt disease

Miriam BauwensCaroline Van CauwenberghSarah De JaegereSteve LefeverBarbara D'haeneThomy de Ravel de l'ArgentièreBart LeroyElfride De BaereFrauke Coppieters

Characterization of cardiovascular involvement in pseudoxanthoma elasticum families

Laurence CampensOlivier VanakkerBram TrachetPatrick SegersBart LeroyJulie De ZaeytijdDirk VoetAnne De PaepeTine De BackerJulie De Backer

A1 Journal Article in ARTERIOSCLEROSIS THROMBOSIS AND VASCULAR BIOLOGY

Copy number analysis of ABCA4 in Belgian patients with Stargardt reveals exon 20-22 deletion

Miriam BauwensSarah De JaegereSteve LefeverBarbara D'haeneFilip PattynLies HoefslootThomy de Ravel de l'ArgentièreBart LeroyElfride De BaereFrauke Coppieters

Exome sequencing identifies a novel RP1 mutation in a Belgian family with autosomal dominant retinitis pigmentosa

Caroline Van CauwenberghFrauke CoppietersSarah De JaegereJulie De ZaeytijdBart LeroyElfride De Baere

Exome sequencing identifies a novel RP1 mutation in a Belgian family with autosomal dominant retinitis pigmentosa

Caroline Van CauwenberghFrauke CoppietersSarah De JaegereJulie De ZaeytijdBart LeroyElfride De Baere

Familial cases of a submicroscopic Xp22.2 deletion : genotype-phenotype correlation in microphthalmia with linear skin defects syndrome

Sarah VergultBart LeroyIlse ClaerhoutBjörn Menten

A1 Journal Article in MOLECULAR VISION

High-resolution optical coherence tomography, autofluorescence, and infrared reflectance imaging in Sjögren reticular dystrophy

Pieter-Paul SchauwvliegheKara Della TorreFrauke CoppietersANNELEEN VAN HOEYElfride De BaereJulie De ZaeytijdBart LeroyScott E Brodie

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

Identification of novel homozygous deletions in consanguineous pedigrees as a shortcut to candidate gene discovery in hereditary blindness

Kristof Van SchilThomy De RavelBart LeroyHannah VerdinFrauke CoppietersFrançoise MeireElfride De Baere

Identification of novel homozygous deletions in consanguineous pedigrees as a shortcut to candidate gene discovery in retinal dystrophies

Kristof Van SchilFrançoise MeireThomy De RavelBart LeroyHannah VerdinFrauke CoppietersElfride De Baere

Identification of novel homozygous deletions in consanguineous pedigrees as a shortcut to candidate gene discovery in retinal dystrophies

Kristof Van SchilFrançoise MeireThomy De RavelBart LeroyHannah VerdinFrauke CoppietersElfride De Baere

Identification of novel homozygous deletions in consanguineous pedigrees as a shortcut to candidate gene discovery in retinal dystrophies

Kristof Van SchilThomy De RavelBart LeroyHannah VerdinFrauke CoppietersFrançoise MeireElfride De Baere

Identity-by-descent mapping and exome sequencing reveals a new candidate gene for the primary congenital glaucoma locus GLC3E

Hannah VerdinBart LeroyBarbara D'haeneElise VantroysSteve LefeverFrauke CoppietersPhilippe KestelynElfride De Baere

Identity-by-descent mapping and exome sequencing reveals a new candidate gene for the primary congenital glaucoma locus GLC3E

Hannah VerdinBart LeroyBarbara D'haeneFrauke CoppietersSteve LefeverPhilippe KestelynElfride De Baere

Maternal uniparental isodisomy of chromosome 6 reveals a TULP1 mutation as a novel cause of cone dysfunction

Susanne RoosingL Ingeborgh van den BonCarel B HoyngAlberta AHJ ThiadeusElfride De BaereRob WJ CollinRobert K KoenekoopBart LeroyNorka van Moll-RamirezHanka Venselaar et al.

A1 Journal Article in OPHTHALMOLOGY

Questioning the pathogenic role of the GLA p.Ala143Thr 'mutation' in Fabry disease: implications for screening studies and ERT

Wim TerrynRaymond VanholderDimitri HemelsoetBart LeroyWim Van BiesenG De SchoenmakereBrigitte WuytsKathleen ClaesJulie De BackerAnne De Paepe et al.

Bookchapter in JIMD reports : case and research reports 2012/5

Regulatory mutations in the 5'UTR of NMNAT1, encoding the nuclear isoform of nicotinamide nucleotide adenylyltransferase 1, cause Leber Congenital Amaurosis

Frauke CoppietersAnnelot BaertCaroline Van CauwenberghMiriam BauwensSarah De JaegereThomy De RavelFrançoise MeireBart LeroyElfride De Baere

Regulatory mutations in the 5'UTR of NMNAT1, encoding the nuclear isoform of nicotinamide nucleotide adenylyltransferase 1, cause Leber Congenital Amaurosis

Frauke CoppietersAnnelot BaertCaroline Van CauwenberghMiriam BauwensSarah De JaegereThomy de RavelFrançoise MeireBart LeroyElfride De Baere

The ADAMTS18 gene is responsible for autosomal recessive early onset severe retinal dystrophy

Ivana PelusoIvan ConteFrancesco TestaGopuraja DharmalingamMariateresa PizzoRob WJ CollinNicola MeolaSara BarbatoMargherita MutarelliCarmela Ziviello et al.

A1 Journal Article in ORPHANET JOURNAL OF RARE DISEASES

Whole-exome sequencing identifies LRIT3 mutations as a cause of autosomal-recessive complete congenital stationary night blindness

Christina ZeitzSamuel G JacobsonChristian P HamelKinga BujakowskaMarion NeuilléElise OrhanXavier ZanlonghiMarie-Elise LancelotChristelle MichielsSharon B Schwartz et al.

A1 Journal Article in AMERICAN JOURNAL OF HUMAN GENETICS

2012

A nonsense mutation in PDE6H causes autosomal-recessive incomplete achromatopsia

Susanne KohlFrauke CoppietersFrançoise MeireSimone SchaichSusanne RoosingChristina BrennenstuhlSylvia BolzMaria M van GenderenFrans CC Riemslagthe European Retinal Disease Consortium et al.

A1 Journal Article in AMERICAN JOURNAL OF HUMAN GENETICS

Age-dependent ocular phenotype in hereditary hyperferritinaemia cataract syndrome (HHCS)

ELISE PLATTEAUKristien HoornaertKoen MoensBart Leroy

A1 Journal Article in ACTA OPHTHALMOLOGICA

BBS1 mutations in a wide spectrum of phenotypes ranging from nonsyndromic retinitis pigmentosa to Bardet-Biedl syndrome

Alejandro Estrada-CuzcanoRobert K KoenekoopAudrey SenechalElfride De BaereThomy de RavelSandro BanfiSsusanne KohlCarmen AyusoDror SharonCarel B Hoyng et al.

A1 Journal Article in ARCHIVES OF OPHTHALMOLOGY

Birdshot-like chorioretinopathy in common variable immunodeficiency

Véronique de MaeyerBart LeroyTessa KerreLiesbeth FerdinandeFilomeen HaerynckFrans De BaetsPhilippe Kestelyn

A2 Journal Article in RETINAL CASES & BRIEF REPORTS

Clinical course, genetic etiology, and visual outcome in cone and cone-rod dystrophy

Alberta AHJ ThiadensT My Lan PhanRenate C Zekveld-VroonBart LeroyL Ingeborgh van den BornCrel B HoyngCaroline CW KlaverSusanne RoosingJan-Willem R PottMary J van Schooneveld et al.

A1 Journal Article in OPHTHALMOLOGY

Clinical utility gene card for: BEST1-related dystrophies (Bestrophinopathies)

Simon C RamsdenAlice E DavidsonBart LeroyAnthony T MooreAndrew R WebsterGraeme CM BlackForbes DC Manson

Editorial material

Enhanced S-cone syndrome with preserved macular structure and severely depressed retinal function

Ivan CimaJelka BreceljMaja SustarFrauke CoppietersBart LeroyElfride De BaereMarko Hawlina

A1 Journal Article in DOCUMENTA OPHTHALMOLOGICA

Exploring the role of a novel disease gene RERG in early-onset retinal dystrophy and related conditions

Kristof Van SchilBart LeroyElfride De Baere

Identification de gènes candidats pour des dystrophies rétiniennes par des délétions homozygotes

Kristof Van SchilFrançoise MeireThomy De RavelBart LeroyElfride De Baere

Identity-by-descent mapping reveals a new locus for primary congenital glaucoma, GLC3E, on chromosome 19p13.2

Hannah VerdinBart LeroyBarbara D'haeneFrauke CoppietersSteve LefeverPhilippe KestelynElfride De Baere

Identity-by-descent mapping reveals a new locus for primary congenital glaucoma, GLC3E, on chromosome 19p13.2

Hannah VerdinBart LeroyBarbara D'haeneFrauke CoppietersSteve LefeverPhilippe KestelynElfride De Baere

Identity-by-descent mapping reveals a new locus for primary congenital glaucoma, GLC3E, on chromosome 19p13.2

Hannah VerdinBart LeroyBarbara D'haeneFrauke CoppietersSteve LefeverPhilippe KestelynElfride De Baere

Identity-by-descent mapping reveals a new locus for primary congenital glaucoma, GLC3E, on chromosome 19p13.2

Hannah VerdinBart LeroyBarbara D'haeneFrauke CoppietersSteve LefeverPhilippe KestelynElfride De Baere

Massively parallel sequencing for early molecular diagnosis in Leber congenital amaurosis

Frauke CoppietersBram De WildeSteve LefeverEllen De MeesterNina De RockerCaroline Van CauwenberghFilip PattynFrançoise MeireBart LeroyJan Hellemans et al.

A1 Journal Article in GENETICS IN MEDICINE

Mutations in C8orf37, encoding a ciliary protein, are associated with autosomal-recessive retinal dystrophies with early macular involvement

Alejandro Estrada-CuzcanoKornelis NevelingSusanne KohlEyal BaninYgal RotenstreichDror SharonTzipora C Falik-ZaccaiStephanie HippRonald RoepmanBernd Wissinger et al.

A1 Journal Article in AMERICAN JOURNAL OF HUMAN GENETICS

Regulatory mutations in the 5'UTR of NMNAT1, encoding the nuclear isoform of nicotinamide nucleotide adenylyltransferase 1, cause Leber Congenital Amaurosis

Frauke CoppietersAnnelot BaertMiriam BauwensCaroline Van CauwenberghSarah De JaegereThomy de RavelFrançoise MeireNouha Abdelmoula BouayedLina Florentin-ArarBart Leroy et al.

Regulatory mutations in the 5'UTR of NMNAT1, encoding the nuclear isoform of nicotinamide nucleotide adenylyltransferase 1, cause Leber Congenital Amaurosis

Frauke CoppietersAnnelot BaertMiriam BauwensCaroline Van CauwenberghSarah De JaegereThomy de RavelFrançoise MeireNouha Abdelmoula BouayedLina Florentin-ArarBart Leroy et al.

Translational impact of VEGFA variants on the prediction and follow-up of ocular complications in pseudoxanthoma elasticum

eva De VilderMohammad Jakir HosenLudovic MartinBart LeroyJean-Marc EbranPaul CouckeAnne De PaepeOlivier Vanakker

Translational impact of VEGFA variants on the prediction and follow-up of ocular complications in pseudoxanthoma elasticum

eva De VilderMohammad Jakir HosenLudovic MartinBart LeroyJean-Marc EbranPaul CouckeAnne De PaepeOlivier Vanakker

Whole-exome sequencing identifies mutations in GPR179 leading to autosomal-recessive complete congenital stationary night blindness

Isabelle AudoKinga BujakowskaElise OrhanCharlotte M PoloschekSabine Defoort-DhellemmesIsabelle DrumareSusanne KohlTien D LuuOdile LecompteEberhart Zrenner et al.

A1 Journal Article in AMERICAN JOURNAL OF HUMAN GENETICS

2011

Atypical presentation of pseudoxanthoma elasticum with abdominal cutis laxa : evidence for a spectrum of ectopic calcification disorders?

Olivier VanakkerBart LeroyLeon J SchurgersCees VermeerPaul CouckeAnne De Paepe

A1 Journal Article in AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Childhood onset autosomal recessive bestrophinopathy

Arundhati Dev BormanAlice E DavidsonJames O'SullivanDorothy A ThompsonAnthony G RobsonElfride De BaereGraeme CM BlackAndrew R WebsterGraham E HolderBart Leroy et al.

Editorial material

Correction of the lower eyelid malpositioning in the blepharophimosis-ptosis-epicanthus inversus syndrome

CHRISTIAN DECOCKIlse ClaerhoutBart LeroyPhilippe KestelynAkash D ShahElfride De Baere

A1 Journal Article in OPHTHALMIC PLASTIC AND RECONSTRUCTIVE SURGERY

Discordance for retinitis pigmentosa in two monozygotic twin pairs

LIEVE BERGHMANSRegina Halfeld Furtado de MendonçaFrauke CoppietersOtacílio de Oliveira Maia JúniorWalter Yukihiko TakahashiWilly LissensElfride De BaereBart Leroy

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

Etiological diagnosis in the hearing impaired newborn: proposal of a flow chart

Els De LeenheerSandra JanssensElizaveta PadalkoDelphine LooseBart LeroyIngeborg Dhooge

A1 Journal Article in INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY

Exome sequencing and cis-regulatory mapping identify mutations in MAK, a gene encoding a regulator of ciliary length, as a cause of retinitis pigmentosa

Riza Köksal ÖzgülAnna M SiemiatkowskaDidem YücelConnie A MyersRob WJ CollinMarijke N ZonneveldAvigail BeryozkinEyal BaninCarel B HoyngL Ingeborgh van den Born et al.

A1 Journal Article in AMERICAN JOURNAL OF HUMAN GENETICS

Expanding the spectrum of FOXC1 and PITX2 mutations and copy number changes in patients with anterior segment malformations

Barbara D'haeneFrançoise MeireIlse ClaerhoutHester Y KroesAstrid PlompYvonne H ArensThomy de RavelIngele CasteelsSarah De JaegereSally Hooghe et al.

A1 Journal Article in INVESTIGATIVE OPHTHALMOLOGY

Identification and characterization of molecular defects underlying retinal dystrophies

Frauke CoppietersElfride De BaereBart Leroy

Identity-by-descent mapping reveals a new locus for primary congenital glaucoma, GLC3E, on chromosome 19p13.2

Hannah VerdinBarbara D'haeneFrauke CoppietersSteve LefeverPhilippe KestelynBart LeroyElfride De Baere

Identity-by-descent mapping reveals a new locus for primary congenital glaucoma, GLC3E, on chromosome 19p13.2

Hannah VerdinBarbara D'haeneFrauke CoppietersSteve LefeverPhilippe KestelynBart LeroyElfride De Baere

Insights into levator muscle dysfunction in a cohort of patients with molecularly confirmed blepharophimosis-ptosis-epicanthus inversus syndrome using high-resolution imaging, anatomic examination and histopathologic examination

CHRISTIAN DECOCKElfride De BaereWOUTER BAUTERSAkash D ShahChristophe DelaeyRamses ForsythBart LeroyPhilippe KestelynIlse Claerhout

A1 Journal Article in ARCHIVES OF OPHTHALMOLOGY

Large deletions of the KCNV2 gene are common in patients with cone dystrophy with supernormal rod response

Bernd WissingerSimone SchaichBritta BaumannMichael BoninHerbert JägleChristoph FriedburgBalázs VarsányiCarel B HoyngHélène DollfusJohn R Heckenliyely et al.

A1 Journal Article in HUMAN MUTATION

The clinical and molecular genetic features of idiopathic infantile periodic alternating nystagmus

Mervyn G ThomasMoira CrosierSusan LindsayAnil KumarShery ThomasMasasuke ArakiChris J TalbotRebecca J McLeanMylvaganam SurendranKatie Taylor et al.

A1 Journal Article in BRAIN

The human visual cortex responds to gene therapy-mediated recovery of retinal function

Manzar AshtariLaura L CyckowskiJustin F MonroeKathleen A MarshallDaniel C ChungAlberto AuricchioFrancesca SimonelliBart LeroyAlbert M MaguireKenneth S Shindler et al.

A1 Journal Article in JOURNAL OF CLINICAL INVESTIGATION

2010

A detailed phenotypic assessment of individuals affected by MFRP-related oculopathy

Rajarshi MukhopadhyayPanagiotis I SergouniotisDonna S MackayAlexander C DayGenevieve WrightSophie DeveryBart LeroyAnthony G RobsonGraham E HolderZheng Li et al.

A1 Journal Article in MOLECULAR VISION

Added value of infrared, red-free and autofluorescence fundus imaging in Pseudoxanthoma elasticum

Julie De ZaeytijdOlivier VanakkerPaul CouckeAnne De PaepeJean DelaeyBart Leroy

A1 Journal Article in BRITISH JOURNAL OF OPHTHALMOLOGY

Adult Refsum disease: a form of tapetoretinal dystrophy accessible to therapy

Klaus RüetherEleanor BaldwinMinne CasteelsMichael D FeherMorten HornSusan KuranoffBart LeroyRonald J WandersAnthony S Wierzbicki

A1 Journal Article in SURVEY OF OPHTHALMOLOGY

CEP290, a gene with many faces : mutation overview and presentation of CEP290base

Frauke CoppietersSteve LefeverBart LeroyElfride De Baere

A1 Journal Article in HUMAN MUTATION

DNA-chipanalyse in de moleculaire diagnostiek van genetisch heterogene aandoeningen : netvliesaandoeningen als voorbeeld

Frauke CoppietersCaroline Van CauwenberghBarbara D'haeneSteve LefeverAnne De PaepeBart LeroyElfride De Baere

A2 Journal Article in TIJDSCHRIFT VOOR GENEESKUNDE

Genetic screening of LCA in Belgium: predominance of CEP290 and identification of potential modifier alleles in AHI1 of CEP290-related phenotypes

Frauke CoppietersIngele CasteelsFrançoise MeireSarah De JaegereSally HoogheNicole van RegemorterHilde Van EschAušra MatulevičienėLuis NunesVALERIE MEERSSCHAUT et al.

A1 Journal Article in HUMAN MUTATION

Normalization of generalized retinal function and progression of maculopathy after cessation of therapy in a case of severe hydroxychloroquine retinopathy with 19 years follow-up

P SaluA UvijlsP Van Den BrandeBart Leroy

A1 Journal Article in DOCUMENTA OPHTHALMOLOGICA

Ptosis as an associated finding in maternally inherited diabetes and deafness

KIRSTEN ROBBERECHTCHRISTIAN DECOCKAnnemie StevensSara SenecaJan De BleeckerBart Leroy

A1 Journal Article in OPHTHALMIC GENETICS

Stickler syndrome caused by COL2A1 mutations: genotype-phenotype correlation in a series of 100 patients

Kristien HoornaertInge VereeckeChantal DewinterThomas RosenbergFrits A BeemerJuliaan LeroyLaila BendixErik BjörckMaryse BonduelleOdile Boute et al.

A1 Journal Article in EUROPEAN JOURNAL OF HUMAN GENETICS

2009

A common NYX mutation in Flemish patients with X linked CSNB

Bart LeroyBS BuddeM WittmerElfride De BaereW BergerC Zeitz

A1 Journal Article in BRITISH JOURNAL OF OPHTHALMOLOGY

Age-dependent effects of RPE65 gene therapy for Leber's congenital amaurosis: a phase 1 dose-escalation trial

AM MaguireKA HighA AuricchioEA PierceF TestaF MingozziJ BennicelliCS YingC AcerraA Fulton et al.

A1 Journal Article in Lancet

Genotyping microarray for CSNB-associated genes

Christina ZeitzStephan LabsBirgit LorenzUrsula ForsterJanne UkstiHester Y KroesElfride De BaereBart LeroyFrans PM CremersMariana Wittmer et al.

A1 Journal Article in INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE

Homozygosity mapping reveals PDE6C mutations in patients with early-onset cone photoreceptor disorders

Alberta AHJ ThiadensAnneke I den HollanderSusanne RoosingSander B NabuursRenate C Zekveld-VroonRob WJ CollinElfride De BaereRobert K KoenekoopMary J van SchooneveldTim M Strom et al.

A1 Journal Article in AMERICAN JOURNAL OF HUMAN GENETICS

ORGANIC ACIDURIA AND LATE ONSET OPTIC ATROPHY

LJ De MeirleirP GoyensPATRICK VERLOOJoél SmetM VandriesscheK CorthoutsBart LeroyRudy Van Coster

TRPM1 Is Mutated in Patients with Autosomal-Recessive Complete Congenital Stationary Night Blindness

I AudoS KohlBart LeroyFL MunierX GuillonneauS Mohand-SaïdK BujakowskaE NandrotB LorenzM Preising et al.

A1 Journal Article in AMERICAN JOURNAL OF HUMAN GENETICS

The spectrum of ocular phenotypes caused by mutations in the BEST1 gene

Camiel JF BoonB Jeroen KleveringBart LeroyCarel B HoyngJan EE KeunenAnneke I den Hollander

A1 Journal Article in PROGRESS IN RETINAL AND EYE RESEARCH

2008

Biallelic mutation of BEST1 causes a distinct retinopathy in humans

R BurgessID MillarBart LeroyJE UrquhartIM FearonElfride De BaerePD BrownAG RobsonGA WrightPHILIPPE ADRIAAN KESTELYN et al.

A1 Journal Article in AMERICAN JOURNAL OF HUMAN GENETICS

Cancer-associated retinopathy (CAR) with electronegative ERG: a case report

Griet GoetgebuerAnna-Maria Kestelyn-StevensJean-Jacques De LaeyPhilippe KestelynBart Leroy

A1 Journal Article in DOCUMENTA OPHTHALMOLOGICA

Identification of 34 novel and 56 known FOXL2 mutations in patients with Blepharophimosis syndrome

DIANE BEYSENSarah De JaegereDavid AmorPhilippe BouchardSophie Christin-MaitreMarc FellousPhilippe TouraineArthur W GrixRaoul HennekamFrançoise Meire et al.

A1 Journal Article in HUMAN MUTATION

Missense mutations in the forkhead domain of FOXL2 lead to subcellular mislocalization, protein aggregation and impaired transactivation

DIANE BEYSENLara MoumneReiner VeitiaHartmut PetersBart LeroyAnne De PaepeElfride De Baere

A1 Journal Article in HUMAN MOLECULAR GENETICS

Novel clinico-molecular insights in Pseudoxanthoma elasticum provide an efficient molecular screening method and a comprehensive diagnostic flowchart

Olivier VanakkerBart LeroyPaul CouckeLionel G BercovitchJouni UittoDennis ViljoenSharon F TerryPetra Van AckerDirk MatthysBart Loeys et al.

A2 Journal Article in HUMAN MUTATION

Ocular features of treatable lysosomal storage disorders: Fabry disease, mucopolysaccharidoses I, II, VI, and Gaucher disease

Ines M LanzlBart Leroy

A2 Journal Article in EUROPEAN OPHTHALMIC REVIEW

Orbital cyst and bilaterel colobomatous microphthalmos Reply

CHRISTIAN DECOCKC.M. BreusegemBart Leroy

A1 Journal Article in BRITISH JOURNAL OF OPHTHALMOLOGY

Vitamin A deficiency during pregnancy and congenital microphthalmos

CHRISTIAN DECOCKCM BreusegemBart Leroy

Editorial material

2007

Development of a genotyping microarray for Usher syndrome

Frans PM CremersWilliam J KimberlingMaigi KülmArjan P de BrouwerErwin van WijkHeleen te BrinkeCor WRJ CremersLies H HoefslootSandro BanfiFrancesca Simonelli et al.

A1 Journal Article in JOURNAL OF MEDICAL GENETICS

High β-trace protein concentration in the fluid of an orbital cyst associated with bilateral colobomatous microphthalmos

CHRISTIAN DECOCKChristoph BreusegemElisabeth Van AkenBart Leroy

Editorial material

Intrafamilial phenotypic variability in families with RDS mutations: exclusion of ROM1 as a genetic modifier for those with retinitis pigmentosa

Bart LeroyA KailasanathanJean DelaeyGCM BlackFDC Manson

A1 Journal Article in BRITISH JOURNAL OF OPHTHALMOLOGY

Preliminary screening results for fabry disease in young stroke patients reveals a new mutation

Dimitri HemelsoetBruce PoppeAnne SiebenFREDERIK VANHEEPASCAL PROOTM De ClerckBart LeroyJulie De BackerBirgit WuytsLJ De Meirleir et al.

Pseudoxanthoma elasticum with generalized retinal dysfunction, a common finding?

Isabelle AudoOlivier VanakkerAlaric SmithBart LeroyAnthony G RobsonSharon A JenkinsPaul CouckeAlan C BirdAnne De PaepeGraham E Holder et al.

A1 Journal Article in INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE

Pseudoxanthoma elasticum-like phenotype with cutis laxa and multiple coagulation factor deficiency represents a separate genetic entity

Olivier VanakkerLudovic MartinDealba GheduzziBart LeroyBart LoeysVeronica I GuerciDirk MatthysSharon F TerryPaul CouckeIvonne Pasquali-Ronchetti et al.

A1 Journal Article in JOURNAL OF INVESTIGATIVE DERMATOLOGY

Recurrent mutation in the first zinc finger of the orphan nuclear receptor NR2E3 causes autosomal dominant retinitis pigmentosa

Frauke CoppietersBart LeroyDIANE BEYSENJan HellemansKarolien De BosscherGuy HaegemanKIRSTEN ROBBERECHTWim WuytsPaul CouckeElfride De Baere

A1 Journal Article in AMERICAN JOURNAL OF HUMAN GENETICS

Two cases of acute macular neuroretinopathy

H.D. CorverJ. RuysA.-M. Kestelyn-StevensJ.-J. De LaeyBart Leroy

A1 Journal Article in EYE

Utility of molecular analyses in the exploration of extreme intrafamilial variability in the Marfan syndrome

Julie De BackerBart LoeysBart LeroyPaul CouckeH DIETZAnne De Paepe

A1 Journal Article in CLINICAL GENETICS

2006

Contribution to the understanding of genotypes and phenotypes in inherited retinal dystrophies : leber congenital amaurosis and autosomal dominant vitreoretinochoroidopathy

Bart LeroyJean DelaeyAlan C Bird

Microarray-based mutation detection and phenotypic characterization of patients with Leber congenital amaurosis

Suzanne YzerBart LeroyElfride De BaereThomy J de RavelMarijke N ZonneveldKrysta VoesenekUlrich KellnerJose P Martinez CirianoJan-Tjeerd HN de FaberKlaus Rohrschneider et al.

A1 Journal Article in INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE

Retinal vessel dilation following repletion of vitamin A deficiency

M LarsenR PedersenNCBB TaarnhøjYlvie SpitsIC MunchBart LeroyK Klemp

A1 Journal Article in EXPERIMENTAL EYE RESEARCH

Visceral and testicular calcifications as part of the phenotype in pseudoxanthoma elasticum: ultrasound findings in Belgian patients and healthy carriers

Olivier VanakkerDirk VoetMirko PetrovicFrédérique Van RobaeysBart LeroyPaul CouckeAnne De Paepe

A1 Journal Article in BRITISH JOURNAL OF RADIOLOGY

2005

Deletions involving long-range conserved nongenic sequences upstream and downstream of FOXL2 as a novel disease-causing mechanism in Blepharophimosis syndrome

DIANE BEYSENJeroen RaesBart LeroyA LucassenJRW YatesJ Clayton-SmithH IlyinaSS BrooksS Christin-MaitreMarc Fellous et al.

A1 Journal Article in AMERICAN JOURNAL OF HUMAN GENETICS

Mutations in VMD2 cause autosomal dominant vitreoretinochoroidopathy (ADVIRC)

Bart LeroyJ YARDLEYN HART-HOLDENBart LafautB PUECHMA REDDYJean DelaeyPhilippe KestelynAT MOOREGCM BLACK

Myopia: more than a refractive error: Lasik and retinal dystrophies

SOPHIE WALRAEDTBart LeroyPhilippe KestelynJean Delaey

A4 Journal Article in BULLETIN DE LA SOCIETE BELGE D'OPHTALMOLOGIE

Reversible visual deficit and corpus callosum lesions due to metronidazole toxicity

Jan De BleeckerBart LeroyVeronique I Meire

A1 Journal Article in EUROPEAN NEUROLOGY

2004

A new type of autosomal recessive spondyloepiphyseal dysplasia tarda

Juliaan LeroyBart LeroyLV EmmeryLudwine MessiaenJW Spranger

A1 Journal Article in AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Centrale en perifere neurologische toxiciteit door metronidazol

Françoise MeireBart LeroyJan De Bleecker

A2 Journal Article in TIJDSCHRIFT VOOR NEUROLOGIE EN NEUROCHIRURGIE

Mutations of VMD2 splicing regulators cause nanophthalmos and autosomal dominant vitreoretinochoroidopathy (ADVIRC)

Jill YardleyBart LeroyNiki Hart-HoldenBart LafautBart LoeysLudwine MessiaenRahat PerveenM Ashwin ReddyShomi S BhattacharyaElias Traboulsi et al.

A1 Journal Article in INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE

Progressive cone dystrophy and sensorineural hearing loss

Julie WittersJulie De ZaeytijdMonique LeysBart Leroy

A4 Journal Article in BULLETIN DE LA SOCIETE BELGE D'OPHTALMOLOGIE

Progressive rod-cone dystrophy with subacute angle-closure glaucoma

Bart LeroyJulie WittersJean DelaeyPhilippe Kestelyn

Rapid recovery of night blindness due to obesity surgery after vitamin A repletion therapy

Ylvie SpitsJean DelaeyBart Leroy

A1 Journal Article in BRITISH JOURNAL OF OPHTHALMOLOGY

The phenotype of Leber congenital amaurosis in patients with AIPL1 mutations

Sharola DhamarajBart LeroyMelanie M SohockiRobert K KoenekoopIsabelle PerraultKhalid AnwarShagufta KhaliqR Summathie DeviDavid G BirchElaine De Pool et al.

A1 Journal Article in ARCHIVES OF OPHTHALMOLOGY

2003

Alport syndrome and conjunctival telangiectasia

CHRISTIAN DECOCKJean DelaeyBart LeroyPhilippe Kestelyn

A4 Journal Article in BULLETIN DE LA SOCIETE BELGE D'OPHTALMOLOGIE

Clinical features & retinal function in patients with Adult Refsum Syndrome

Bart LeroyCR HoggPR RathV McBainPhilippe KestelynAC BirdGE Holder

A1 Journal Article in Advances in Experimental Medicine and Biology

FOXL2 and BPES: mutational hotspots, phenotypic variability, and revision of the genotype-phenotype correlation

Elfride De BaereDIANE BEYSENChristine OleyBirgit LorenzJulie CocquetPetra De SutterKoen DevriendtMichael DixonMarc FellousJean-Pierre Fryns et al.

A1 Journal Article in AMERICAN JOURNAL OF HUMAN GENETICS

Leber congenital amaurosis

Bart LeroySharola Dharmaraj

Bookchapter in Orphanet encyclopedia

The contribution of USH1C mutations to syndromic and non-syndromic deafness in the UK

DC BlaydonRF MuellerTP HutchinBart LeroySS BhattacharyaAC BirdS MalcolmM Bitner-Glindzicz

A1 Journal Article in CLINICAL GENETICS

2002

Genetic causes of retinal blindness

Jean DelaeyBart Leroy

A2 Journal Article in SAUDI JOURNAL OF OPHTHALMOLOGY

Novel insights in genotype-phenotype correlations in BPES through in-depth FOXL2 mutation analysis

Elfride De BaereDIANE BEYSENC OLEYPetra De SutterA GARZAC JONSRUDP KOIVISTOBart LeroyB LORENZFrançoise Meire et al.

2001

Clinical and electrophysiological findings in autosomal dominant vitreoretinochoroidopathy: report of a new pedigree.

Bart LafautBart LoeysBart LeroyW SpileersJean DelaeyPhilippe Kestelyn

A1 Journal Article in GRAEFES ARCHIVE FOR CLINICAL AND EXPERIMENTAL OPHTHALMOLOGY

Locus for autosomal recessive nonsyndromic persistent hyperplastic primary vitreous

Shagufta KhaliqAbdul HameedMuhammad IsmailKhalid AnwarBart LeroyAnnette M PayneShomi S BhattachyaraS Qasim Mehdi

A1 Journal Article in INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE

Mesopic visual acuity requirements for driving licences in the European Union research report

A UvijlsR BaetsBart LeroyPhilippe Kestelyn

A4 Journal Article in BULLETIN DE LA SOCIETE BELGE D'OPHTALMOLOGIE

Spectrum and distribution of FOXL2 gene mutations and variants in BPES, POF and XX male patients: tentative genotype-phenotype correlation

Elfride De BaereM DIXONK SMALLE JABSBart LeroyK DEVRIENDTY GILLEROTGeert MortierFrançoise MeireL VAN MALDERGEM et al.

Spectrum of FOXL2 gene mutations in blepharophimosis-ptosis-epicanthus inversus (BPES) families demonstrates a genotype-phenotype correlation

Elfride De BaereMichael J DixonKent W SmallEthylin W JabsBart LeroyKoenraad DevriendtYves GillerotGeert MortierFrançoise MeireLioinel Van Maldergem et al.

A1 Journal Article in HUMAN MOLECULAR GENETICS

Spectrum of mutations in USH2A in British patients with Usher syndrome type II

Bart LeroyJosé A Aragon-MartinMichael D WestonDavid AR BessantCatherine WillisAndrew R WebsterAlan C BirdWilliam J KimberlingAnnette M PayneShomi S Bhattacharya

A1 Journal Article in EXPERIMENTAL EYE RESEARCH

2000

Chromosomal duplication involving the forkhead transcription factor gene FOXC1 causes iris hypoplasia and glaucoma

Ordan J LehmannNeil D EbenezerTim JordanMargaret FoxLuise OcakaAnnette PayneBart LeroyBrian J ClarkRoger A HitchingsSue Povey et al.

A1 Journal Article in AMERICAN JOURNAL OF HUMAN GENETICS

Novel locus for autosomal recessive cone-rod dystrophy CORD8 mapping to chromosome 1q12-Q24

Shagufta KhaliqAbdul HameedMyhammad IsmailKhalid AnwarBart LeroyS Qasim MehdiAnnette M PayneShomi S Bhattacharya

A1 Journal Article in INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE

Prevalence of AIPL1 mutations in inherited retinal degenerative disease

Melanie M SohockiIsabelle PerraultBart LeroyAnnette M PayneSharola DharmarajShomi S BhattacharyaJosseline KaplanIrene H MaumeneeRobert KoenekoopFrançoise Meire et al.

A1 Journal Article in MOLECULAR GENETICS AND METABOLISM

RP1 protein truncating mutations predominate at the RP1 adRP locus

Annette PayneEranga VithanaShagufta KhaliqAbdul HameedJane DellerLeen Abu-SafiehSana KermaniBart LeroyS Qasim MehdiAnthony T Moore et al.

A1 Journal Article in INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE

1998

A large field panel D-15 test for low vision patients

A UvijlsBart LeroyMonique LeysA De RouckPhilippe Kestelyn

A4 Journal Article in BULLETIN DE LA SOCIETE BELGE D'OPHTALMOLOGIE

1997

Colour vision and colour vision deficiencies

A UvijlsV MortierBart Leroy

1996

Neuropsychological aspects of Marfan syndrome

Engelien LannooAnne De PaepeBart LeroyEvert Thiery

A1 Journal Article in CLINICAL GENETICS

Ophthalmological signs of tuberous sclerosis

Bart LeroyD CartonJean Delaey

A4 Journal Article in BULLETIN DE LA SOCIETE BELGE D'OPHTALMOLOGIE

Refined genetic and physical mapping of BPES type II

Ludwine MessiaenBart LeroySylvia De BieK De PauwNadine Van RoyFranki SpelemanG Van CampAnne De Paepe

A1 Journal Article in EUROPEAN JOURNAL OF HUMAN GENETICS

1995

Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES): clinical subtypes and their genotype

Bart LeroyLudwine MessiaenNadine Van RoyFranki SpelemanAnne De Paepe

Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES): report of a large family

Bart LeroyH VermeerschFranki SpelemanNadine Van RoyL MessiaenAnne De Paepe

1994

Ocular anomalies in an unbalanced translocation between chromosomes 7 and 8

G VereeckenBart LeroyFranki SpelemanMichel HanssensFrançoise Meire

A4 Journal Article in BULLETIN DE LA SOCIETE BELGE D'OPHTALMOLOGIE

1992

T-cell receptor expression in patients with rheumatic diseases

Filip De KeyserDominique BenoitDirk ElewautBart LeroyAnne-Marie MalfaitAugust VerbruggenEric Veys

T-cell receptor expression in patients with rheumatic diseases

Filip De KeyserDominique BenoitDirk ElewautBart LeroyAnne-Marie MalfaitAugust VerbruggenEric Veys

A1 Journal Article in PROGRESS IN HISTOCHEMISTRY AND CYTOCHEMISTRY

Mutations in Usherin in British patients with Usher syndrome type 2

Bart LeroyJA ARAGON-MARTINMD WESTONDAR BESSANTC WILLISAC BIRDWJ KIMBERLING

A2 Journal Article in Exp. Eye Res., 72, 2001, 503-509.