Research Explorer

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Researcher

Julie De Zaeytijd

Awards & Distinctions

96 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

Phenotyping vestibulocochlear manifestations in Susac syndrome : a cohort study

Astrid RoelensMaria VandekerckhoveLeen MaesCathérine DekeyserDimitri HemelsoetVeroniek Van DriesscheMarijke MiattonLiesbeth Van HijfteJulie De ZaeytijdTineke Van Vrekhem et al.

A1 Journal Article in EUROPEAN ARCHIVES OF OTO-RHINO-LARYNGOLOGY

Uncovering the genetic architecture of inherited retinal disease in a consanguineous Iranian cohort

Lieselot VinckeKristof Van SchilHamid AhmadiehAfrooz MoghaddasiHamideh SabbaghiNarsis DaftarianTahmineh MotevasseliLeila Javanparast SheykhaniMohammadreza DehghaniMohammad Yahya Vahidi Mehrjardi et al.

A1 Journal Article in NPJ GENOMIC MEDICINE

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.

A1 Journal Article in SCIENTIFIC REPORTS

Cognitive outcomes in Susac syndrome : a 2-year neuropsychological follow-up study

Tineke Van VrekhemMarijke MiattonDimitri HemelsoetLiesbeth Van HijfteCathérine DekeyserJulie De ZaeytijdVeroniek Van DriesscheHelen Van HoeckeLeen MaesGuy Laureys

A1 Journal Article in EUROPEAN JOURNAL OF NEUROLOGY

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

Combining surgery, radiotherapy, and topical chemotherapy to prevent primary orbital exenteration for atypical caruncular melanoma : a case report

Cédric De LandsheerValentien MerlevedeCeline JacobsJo Van DorpeJulie De ZaeytijdVirginie NinclausDimitri Roels

A2 Journal Article in CASE REPORTS IN OPHTHALMOLOGY

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

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.

Atypical clinical and novel radiological findings in Susac syndrome : experience from a large monocentric cohort

Cathérine DekeyserAlexander VanhoorneDimitri HemelsoetLiesbeth Van HijfteJulie De ZaeytijdVeroniek Van DriesscheHelen Van HoeckeMarijke MiattonTineke Van VrekhemLeen Maes et al.

A1 Journal Article in JOURNAL OF NEUROIMMUNOLOGY

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

Pathogenicity of mutation in MT-ND1 (m. 3796A>G) in a family with 'Leber Hereditary Optic Neuropathy Plus Phenotype'

Heleen ParmentierArnaud VanlanderS. SenecaHedwig StepmanJulie De ZaeytijdBart DermautDimitri Hemelsoet

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.

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 eye-opening case report of constrictive pericarditis

Sebastiaan DhontYves Van BelleghemJulie De ZaeytijdEls Vandecasteele

A2 Journal Article in EUROPEAN HEART JOURNAL-CASE REPORTS

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

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-read sequencing to unravel complex structural variants of CEP78 leading to cone-rod dystrophyand hearing loss

Giulia AscariNanna D. RendtorffMarieke De BruyneJulie De ZaeytijdMichel Van LintMattias Van HeetveldeGavin ArnoJulie JacobDavid CreytensJo Van Dorpe et al.

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

Multi-omics profiling, in vitro and in vivo enhancer assays dissect the 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.

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

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

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

Long-read sequencing to unravel complex structural variants of CEP78 leading to cone-rod dystrophy and hearing loss

Giulia AscariNanna RendtorffMarieke De BruyneJulie De ZaeytijdMichel Van LintMattias Van HeetveldeAlfredo Dueñas ReyGavin ArnoJulie JacobDavid Creytens et al.

Long-read sequencing to unravel complex structural variants of CEP78 leading to cone-rod dystrophy and hearing loss

Giulia AscariNanna D. RendtorffMarieke De BruyneJulie De ZaeytijdMichel Van LintMiriam BauwensMattias Van HeetveldeGavin ArnoJulie JacobDavid Creytens et al.

A1 Journal Article in FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY

Long-read sequencing to unravel complex structural variants of CEP78 leading to cone‐rod dystrophy and hearing loss

Giulia AscariNanna D RendtorffMarieke De BruyneJulie De ZaeytijdMichel Van LintMattias Van HeetveldeAlfredo Dueñas ReyGavin ArnoJulie JacobDavid Creytens et al.

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

Scheimpflug-based analysis of the reflectivity of the cornea in Marfan syndrome

Michèle TackElke O. KrepsJulie De ZaeytijdAlejandra Consejo

A1 Journal Article in TRANSLATIONAL VISION SCIENCE & TECHNOLOGY

2020

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

Unraveling complex structural variants of CEP78 leading to cone rod dystrophy and hearing loss using long read sequencing

Giulia AscariNanna D. RendtorffJulie De ZaeytijdValerie BaumontMarieke De BruyneMattias Van HeetveldeToon RosseelTim De PooterPeter De RijkWouter De Coster et al.

Unraveling complex structural variants of CEP78 leading to cone rod dystrophy and hearing loss using long read sequencing

Giulia AscariNanna D. RendtorffJulie De ZaeytijdValerie BaumontMarieke De BruyneMattias Van HeetveldeToon RosseelTim De PooterPeter De RijkWouter De Coster et al.

Unraveling complex structural variants of CEP78 leading to cone-rod dystrophy and hearing loss using long-read sequencing

Giulia AscariNanna D. RendtorffJulie JacobJulie De ZaeytijdValerie BaumontMarieke De BruyneToon RosseelMattias Van HeetveldeTim De PooterWouter De Coster et al.

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

Whole genome sequencing and 4C techniques provide novel insights into the genetic architecture and mechanisms underlying North Carolina macular dystrophy, a cis-regulatory disease

Stijn Van de SompeleThijs Van der SnicktEva D'haeneSarah VergultPetra LiskovaCarlo RivoltaJenneke van den EndeArthur BergenIrina BalikovaJulie De Zaeytijd et al.

Whole genome sequencing and 4C techniques provide novel insights into the genetic architecture and mechanisms underlying North Carolina macular dystrophy, a cis-regulatory disease

Stijn Van de SompeleThijs Van der SnicktEva D'haeneSarah VergultPetra LiskovaCarlo RivoltaJenneke Van den EndeArthur A. BergenIrina BalikovaJulie De Zaeytijd et al.

Whole genome sequencing and 4C techniques provide novel insights into the genetic architecture and mechanisms underlying North Carolina macular dystrophy, a cis-regulatory disease

Stijn Van de SompeleThijs Van der SnicktEva D'haeneSarah VergultPetra LiskovaCarlo RivoltaJenneke van den EndeArthur A. BergenIrina BalikovaJulie De Zaeytijd et al.

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

Atypical clinical and novel radiological findings in Susac syndrome

Zoë DelaruelleAlexander VanhoorneJulie De ZaeytijdEls De LeenheerVeroniek Van DriesscheGuy LaureysDimitri Hemelsoet

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

Biotinidase deficiency: A treatable cause of opticospinal syndrome in young adults

Vincent Van IseghemMathieu SprengersJulie De ZaeytijdSindic CJMB WillekensBart DermautDimitri HemelsoetGuy Laureys

Editorial material

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

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.

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

Worsening of cluster headache with intravenous dihydroergotamine? Think out of the box!

Nicolas VandenbusscheJulie De ZaeytijdDimitri RoelsKoen Paemeleire

2018

An atypical case of neurosarcoidosis presenting with neovascular glaucoma

Melissa VereeckenKarolien HollandersDeborah De BruynVirginie NinclausJulie De ZaeytijdIlse De Schryver

A2 Journal Article in JOURNAL OF OPHTHALMIC INFLAMMATION AND INFECTION

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

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

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

Thrombomodulin and endothelial dysfunction : a disease-modifier shared between malignant hypertension and atypical hemolytic uremic syndrome

Marieke DemeulenaereKatrien DevreeseHilde VanbelleghemJulie De ZaeytijdJohan Vande WalleWim Van BiesenSteven Van Laecke

A1 Journal Article in NEPHRON

2017

Diplopia as presenting sign of Turcot syndrome

Virginie NinclausSOPHIE WALRAEDTEdward BaertGenevieve LaureysBart LeroyJulie De Zaeytijd

A1 Journal Article in INTERNATIONAL OPHTHALMOLOGY

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

Peripheral ischaemic retinopathy and neovascularisation in a patient with subacute streptococcus mitis-induced bacterial endocarditis

Laura LeysenElke O. KrepsIlse De SchryverKristien HoornaertVanessa SmithJulie De Zaeytijd

A2 Journal Article in GMS. OPHTHALMOLOGY CASES

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

Bilateral choroidal metastases from endobronchial carcinoid treated with somatostatin analogues

Deborah De BruynJan LamontErik VanderstraetenSimon Van BelleELISE PLATTEAUJulie De ZaeytijdKristien Hoornaert

A2 Journal Article in OPEN OPHTHALMOLOGY JOURNAL

Contact dermatitis in patients undergoing serial intravitreal injections

Jolien VerammeJulie De ZaeytijdJo LambertHilde Lapeere

A2 Journal Article in CONTACT DERMATITIS

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

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

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

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

Colour vision in Stargardt disease

Tine VandenbrouckeRonald BuylJulie De ZaeytijdMiriam BauwensAndré UvijlsElfride De BaereBart Leroy

A1 Journal Article in OPHTHALMIC RESEARCH

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

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

2014

Bilateral non-arteritic ischemic optic neuropathy in a transsexual woman using excessive estrogen dosage

Katrien WierckxJulie De ZaeytijdEls ElautGUNTER HEYLENSGuy T'Sjoen

A1 Journal Article in ARCHIVES OF SEXUAL BEHAVIOR

Congenital fixed dilated pupils due to ACTA2-multisystemic smooth muscle dysfunction syndrome

Françoise MJ RoulezFranny FaesPatricia DelbekePatrick Van BogaertGeorges RodeschJulie De ZaeytijdFanny DepassePaul CouckeFrancoise M Meire

A1 Journal Article in JOURNAL OF NEURO-OPHTHALMOLOGY

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

2013

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

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

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

2010

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

2004

Progressive cone dystrophy and sensorineural hearing loss

Julie WittersJulie De ZaeytijdMonique LeysBart Leroy

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