Research Explorer

Your browser does not support JavaScript or JavaScript is not enabled. Without JavaScript some functions of this webapplication may be disabled or cause error messages. To enable JavaScript, please consult the manual of your browser or contact your system administrator.

Researcher

Frauke Coppieters

Publications & Research Data

Awards & Distinctions

174 Results

2026

A rare 5’UTR variant in SEC24D reveals translational dysfunction in osteogenesis imperfecta : a roadmap for RNA therapeutic rescue

Osama EssawiTamara JaraysehPiyanoot TapaneeyaphanManon BouckaertSarah NaessensFransiska MalfaitFrauke CoppietersPaul Coucke

A1 Journal Article in SCIENTIFIC REPORTS

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

BioID reveals that NR2E3 mediates transcriptional repression through the AP-1 complex

dr. Edith De BruyckerOlivier ZwaenepoelManon BouckaertGeorgios MoschonasDelphine De SutterLouis DelhayeFrauke CoppietersSven EyckermanJan GettemansElfride De Baere

Cost-effective multiplex digital PCR quantification using universal Rainbow detection probes

Gertjan WilsEmma JacobsAmber DeclercqPeter Natividad D. CeulemansJan HellemansFrauke CoppietersSteve LefeverJo Vandesompele

U Journal Article in EUROPEAN JOURNAL OF HUMAN GENETICS

Deciphering the largest disease-associated transcript isoforms in the human neural retina with advanced long-read sequencing approaches

Merel StemerdinkTabea RiepeNick ZomerRenee SalzMichael KwintJaap OostrikRaoul TimmermansBarbara FerrariStefano FerrariAlfredo Dueñas Rey et al.

A1 Journal Article in GENOME RESEARCH

Design and evaluation of universal control antisense oligonucleotides across cellular models

Edith De BruyckerManon BouckaertEmma DelanoteLeander MeurisHanne LenaertsLode DenolfKatrien RemautAn StaesKris GevaertSteve Lefever et al.

DNA sample tracking for diagnostic exome sequencing - a 1-year experience

Peter N. D. CeulemansMatthias De SmetTom SanteGertjan WilsThalia Van LaethemMauro Alessio MilazzoJo VandesompeleFrauke CoppietersSteve LefeverBrecht Guillemyn et al.

U Journal Article in EUROPEAN JOURNAL OF HUMAN GENETICS

Evaluation of a novel antisense oligonucleotide therapy targeting a 5’UTR variant in the RDH12 gene

Manon BouckaertKyana Van AckerBirthe HilgenMaria GeorgiouFilip Van Den BroeckEdith De BruyckerAlfredo Dueñas ReyEmma DelanoteHanne LenaertsMelita Kaltak et al.

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

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

A1 Journal Article in STEM CELL RESEARCH

Multi-level exploration of the photoreceptor-specific nuclear receptor NR2E3 implicated in autosomal dominant retinitis pigmentosa

Edith De BruyckerElfride De BaereJan GettemansFrauke Coppieters

Non-coding single-nucleotide and structural variants affecting the EYS putative promoter cause autosomal recessive retinitis pigmentosa

Tamar HaymanShai OvadiaJaya KrishnanManon BouckaertDaan M. PannemanMilton EnglishJohanna ValensiFrans P.M. CremersTamar Ben YosefL. Ingeborgh van den Born et al.

A1 Journal Article in GENETICS IN MEDICINE

RetiGene, a comprehensive gene atlas for inherited retinal diseases (IRDs)

Mathieu QuinodozElifnaz CelikDhryata KamdarFrancesca CancellieriKarolina KaminskaMukhtar UllahPilar Barberán-MartínezManon BouckaertMarta CortónEmma Delanote et al.

A1 Journal Article in AMERICAN JOURNAL OF HUMAN GENETICS

TurboID proximity interactome mapping reveals NR2E3 association with AP-1 and retinal developmental complexes

Edith De BruyckerOlivier ZwaenepoelGeorgios MoschonasDelphine De SutterEva D'haeneCharlotte MattonLaure VandeveldeJULIE VAN DE VELDEQuinten MahieuSara Dufour et al.

Unravelling the proxisome of photoreceptor-specific nuclear receptor NR2E3 reveals a potential molecular link between transcriptional regulation and splicing in human retina

Edith De BruyckerOlivier ZwaenepoelManon BouckaertGeorgios MoschonasDelphine De SutterLouis DelhayeFrauke CoppietersSven EyckermanJan GettemansElfride De Baere

2024

A proteogenomic atlas of the human neural retina

Tabea V. RiepeMerel StemerdinkRenee SalzAlfredo Dueñas ReySuzanne E. de BruijnErica BoonenTomasz Z. TomkiewiczMichael KwintJolein GloerichHans J. C. T. Wessels et al.

A1 Journal Article in FRONTIERS IN GENETICS

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

Comprehensive tissue specificity analysis identifies (novel) retinaspecific, long non-coding RNAs

Emma DelanoteAlfredo Dueñas ReyKarla RuizVictor Lopez SorianoManon BouckaertKelly LemeireJasper VerwiltHanne LenaertsSarah De KeulenaerFilip Van Nieuwerburgh et al.

U Journal Article in INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE

Enhancing anti-cancer immunity through immunogenic cell death : the role of endothelial cells in the tumor microenvironment

Faye NaessensRobin DemuynckOlga VershininaIuliia EfimovaElena CatanzaroMariia SaviukLouis Van der MeerenMaria VedunovaFrauke CoppietersMikhail Ivanchenko et al.

Evaluation of a novel antisense oligonucleotide therapy targeting a 5’UTR mutation in the RDH12 gene

Manon BouckaertKyana Van AckerMaria GeorgiouFilip Van Den BroeckEdith De BruyckerAlfredo Dueñas ReyEmma DelanoteHanne LenaertsMelita KaltakElfride De Baere et al.

Evaluation of a novel antisense oligonucleotide therapy targeting a 5’UTR mutation in the RDH12 gene

Manon BouckaertKyana Van AckerMaria GeorgiouFilip Van Den BroeckMargot De MoorEdith De BruyckerAlfredo Dueñas ReyEmma DelanoteHanne LenaertsMelita Kaltak et al.

Evaluation of a novel antisense oligonucleotide therapy targeting a 5’UTR mutation in the RDH12 gene

Manon BouckaertKyana Van AckerBirthe HilgenMaria GeorgiouFilip Van Den BroeckMargot De MoorEdith De BruyckerAlfredo Dueñas ReyEmma DelanoteHanne Lenaerts et al.

Multi-omics analysis in human retina uncovers ultraconserved cis-regulatory elements at rare eye disease loci

Victor Lopez SorianoAlfredo Dueñas ReyRajarshi MukherjeeFrauke CoppietersMiriam BauwensAndy WillaertElfride De Baere

A1 Journal Article in NATURE COMMUNICATIONS

Multi-omics analysis in human retina uncovers ultraconserved cis-regulatory elements at rare eye disease loci ( vol 15, 1600, 2024)

Victor Lopez SorianoAlfredo Dueñas ReyRajarshi MukherjeeFrauke CoppietersMiriam BauwensAndy WillaertElfride De Baere[missing] Genomics England Res Consortium

Single domain antibodies to tackle autosomal dominant retinitis pigmentosa caused by NR2E3 mutation G56R

Edith De BruyckerOlivier ZwaenepoelFrauke CoppietersJan GettemansElfride De Baere

Uncovering the role of non-coding regulatory variation in inherited retinal disease

Alfredo Dueñas ReyFrauke CoppietersElfride De BaereMiriam Bauwens

Unravelling the interactome of nuclear receptors through proximity dependent biotin labelling

Edith De BruyckerOlivier ZwaenepoelManon BouckaertLaure VandeveldeDelphine De SutterLouis DelhayeFrauke CoppietersSven EyckermanElfride De BaereJan Gettemans

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 integrated approach using multi-omics data to dissect cis-regulatory role of ultraconserved non-coding elements (UCNEs) in human retina

Victor Lopez SorianoAlfredo Dueñas ReyStijn Van de SompeleFrauke CoppietersAndrew WebsterMiriam 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

Differential protease content of mast cells and the processing of IL-33 in Alternaria alternata induced allergic airway inflammation in mice

Olga KryskoDarya KorsakovaAndrea Renate TeufelbergerAmse De MeyerJill SteelsNatalie De RuyckJudith van OvostSharon Van NevelGabriële HoltappelsFrauke Coppieters et al.

A1 Journal Article in FRONTIERS IN IMMUNOLOGY

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.

Identification and characterization of a novel retinaspecific lncRNA upstream ABCA4 with a potential role in ABCA4-associated inherited retinal disease

Alfredo Dueñas ReyVictor Lopez SorianoZelia CorradiClaire-Marie DhaenensManon BouckaertJasper VerwiltAvril WatsonMajlinda LakoEva D'haeneKarla Alejandra Ruiz Ceja et al.

Single domain antibodies to study orphan receptors and tackle their mutant counterpart with dominant-negative effect

Edith De BruyckerOlivier ZwaenepoelFrauke CoppietersElfride De BaereJan Gettemans

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.

2022

DC vaccines loaded with glioma cells killed by photodynamic therapy induce Th17 anti-tumor immunity and provide a four-gene signature for glioma prognosis

Maria VedunovaVictoria TurubanovaOlga VershininaMariia SaviukIuliia EfimovaTatiana MishchenkoRobrecht RaedtAnne VralChristian VanhoveDaria Korsakova et al.

A1 Journal Article in CELL DEATH & DISEASE

Expanding the coding and non-coding genomic landscape of genetic eye diseases

Stijn Van de SompeleElfride De BaereFrauke CoppietersKris Vleminckx

Joubert syndrome

Frauke CoppietersElise HéonMonika K. Grudzinska Pechhacker

Bookchapter in Clinical ophthalmic genetics and genomics

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

Julie De ZaeytijdBart LeroyElfride De BaereFrauke Coppieters

Performance Evaluation of Three DNA Sample Tracking Tools in a Whole Exome Sequencing Workflow

Gertjan WilsCeline HelsmoortelPieter-Jan VoldersInge VereeckeMauro Alessio MilazzoJo VandesompeleFrauke CoppietersKim De LeeneerSteve Lefever

U Journal Article in MOLECULAR DIAGNOSIS & THERAPY

2021

Cell death stage dictates the immunogenicity of ferroptotic cancer cells

Iuliia EfimovaElena CatanzaroRobin DemuynckLouis Van der MeerenFrauke CoppietersClaus BachertAndre SkirtachOlga KryskoDmitri Krysko

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

Selection and validation of reference genes for accurate RT-qPCR gene expression normalization in cacao beans during fermentation

Jocelyn De WeverTibo De ConinckHelena EveraertEmmanuel Ohene AfoakwaFrauke CoppietersHayley RottiersStephen Yaw OpokuSamuel LoworKoen DewettinckJo Vandesompele et al.

A1 Journal Article in TREE GENETICS & GENOMES

2020

CIL-EYE : functional characterization of potential ciliary genes involved in syndromic inherited retinal diseases

Giulia AscariElfride De BaereFrauke CoppietersKris Vleminckx

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

Vaccination with early ferroptotic cancer cells induces efficient antitumor immunity

Iuliia EfimovaElena CatanzaroLouis Van der MeerenVictoria TurubanovaHamida HammadTatiana MishchenkoMaria VedunovaCarmela FimognariClaus BachertFrauke Coppieters et al.

A1 Journal Article in JOURNAL FOR IMMUNOTHERAPY OF CANCER

2019

Analysis of whole exome sequencing data with a panel of genes associated with intellectual disability and epilepsy in a diagnostic lab

Sarah VergultErika D'haenensMachteld BaetensFrauke CoppietersMaarten De SmetAnnelies DheedeneToon RosseelTom SanteBjörn Menten

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

Antisense oligonucleotide-based downregulation of the G56R pathogenic variant causing NR2E3-associated autosomal dominant retinitis pigmentosa

Sarah NaessensLaurien RuysschaertSteve LefeverFrauke CoppietersElfride De Baere

A1 Journal Article in GENES

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

Biallelic sequence and structural variants in RAX2 are a novel cause for autosomal recessive inherited retinal disease (vol 21, pg 1319, 2019)

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

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

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.

Mapping the genomic landscape of inherited retinal disease genes prioritizes genes prone to coding and noncoding copynumber variations (vol 20, pg 202, 2018)

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

PCR based target enrichment for variant confirmation, gene panels and multiplex PCR sample tracking in a whole exome sequencing workflow

Frauke CoppietersThalia Van LaethemMatthias De SmetPaul CouckeElfride De BaereKathleen ClaesBjörn MentenJo VandesompeleSteve Lefever

Recurrent coding and rare non-coding targets for treatment in inherited retinal diseases

Sarah NaessensElfride De BaereFrauke Coppieters

The development of a novel SNP genotyping assay to differentiate cacao clones

Jocelyn De WeverHelena EveraertFrauke CoppietersHayley RottiersKoen DewettinckSteve LefeverKathy Messens

A1 Journal Article in SCIENTIFIC REPORTS

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

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

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

CRISPR/Cas9 mediated knockout of rcbtb1 in Xenopus tropicalis to model RCBTB1-associated retinal disease

Giulia AscariThomas NaertTom Van NieuwenhuysenMarjolein CarronSuzan DemuynckChris GuerinFrauke CoppietersKris VleminckxElfride De Baere

CRISPR/Cas9 mediated knockout of rcbtb1 in Xenopus tropicalis to model RCBTB1-associated retinal disease

Giulia AscariThomas NaertTom Van NieuwenhuysenSuzan DemuynckChris GuerinFrauke CoppietersKris VleminckxElfride De Baere

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

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

When one rare disease hides another : Kartagener syndrome masking FMF

Levi HosteFrans De BaetsSabine Van daelePetra SchelstraeteMieke BoonMarieke De BruyneMelissa DullaersFrauke CoppietersFilomeen Haerynck

A1 Journal Article in CLINICAL PEDIATRICS

2017

A next-generation sequencing approach targeting the highly repetitive ORF15 region of RPGR improves molecular diagnostics of X-linked retinitis pigmentosa

Annelies De JaegherSarah De JaegereToon RosseelSteve LefeverFrauke CoppietersKim De LeeneerElfride De Baere

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

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

High-throughput PCR assay design for targeted resequencing using primerXL

Steve LefeverFilip PattynBram De WildeFrauke CoppietersSarah De KeulenaerJan HellemansJo Vandesompele

A1 Journal Article in BMC BIOINFORMATICS

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.

Molecular characterization of Theobroma cacao L. clones from Vietnam

Helena EveraertHayley RottiersJocelyn De WeverSteve LefeverFrauke CoppietersPham Hong Duc PhuocHa Lam Thi VietThi Phuong Dung NguyenDiem Phuong TranKoen Dewettinck 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

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

Caroline Van CauwenberghElfride De BaereBart LeroyFrauke Coppieters

NR5A1 is a novel disease gene for 46,XX testicular and ovotesticular disorders of sex development

Dorien BaetensHans StoopFrank PeelmanAnne-Laure TodeschiniToon RosseelFrauke CoppietersReiner VeitiaLeendert LooijengaElfride De BaereMartine Cools

A1 Journal Article in GENETICS IN MEDICINE

Second hit landscape in BRCA-associated breast cancer

Mattias Van HeetveldeMieke Van BockstalTrees LepezSteve LefeverLeen PietersKathleen LambeinMarleen PraetIvo Van Den BergheFrauke CoppietersNadine Van Roy et al.

2016

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

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

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.

JAK2 deficiency as a novel cause of impaired Th17 immunity

Filomeen HaerynckDelfien BogaertElfride De BaereKristof Van SchilFrauke CoppietersMarieke De BruyneMargot HagendorensTessa KerreFrans De BaetsMaria Bordon Cueto De Braem et al.

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

Targeted resequencing and variant validation using pxlence PCR assays

Frauke CoppietersKimberly VerniersKim De LeeneerJo VandesompeleSteve Lefever

A2 Journal Article in BIOMOLECULAR DETECTION AND QUANTIFICATION

Thorough second hit analysis in BRCA1/2 associated breast cancer

Mattias Van HeetveldeTrees LepezLeen PietersSteve LefeverJo Van DorpeKathleen LambeinMarleen Praetivo Van Den BergheFrauke CoppietersJo Vandesompele et al.

Thorough second-hit analysis in BRCA1/2-associated breast cancer

Mattias Van HeetveldeTrees LepezLeen PietersSteve LefeverJo Van DorpeKathleen LambeinMarleen PraetIvo Van Den BergheFrauke CoppietersJo Vandesompele et al.

When two rare diseases coincide : Kartagener Syndrome and Familial Mediterranean Fever

Levi HosteFrans De BaetsSabine Van daelePetra SchelstraeteMieke BoonElfride De BaereFrauke CoppietersFilomeen Haerynck

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

Best-in-class PCR based target enrichment for NGS panels and Sanger variant confirmation

Steve LefeverFrauke CoppietersJo Vandesompele

Early-onset autosomal recessive cerebellar ataxia associated with retinal dystrophy: new human hotfoot phenotype caused by homozygous GRID2 deletion

Kristof Van SchilFrançoise MeireMarcus KarlstetterMiriam BauwensHannah VerdinFrauke CoppietersEva ScheiffertChristian Van NechelThomas LangmannNicolas Deconinck et al.

A1 Journal Article in GENETICS IN MEDICINE

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

Flexible, scalable, and efficient targeted resequencing on a benchtop sequencer for variant detection in clinical practice

Kim De LeeneerJan HellemansWouter SteyaertSteve LefeverInge VereeckeEveline DebalsBrecht CrombezMachteld BaetensMattias Van HeetveldeFrauke Coppieters et al.

A1 Journal Article in HUMAN MUTATION

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

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

Kristof Van SchilMarcus KarlstetterFrançoise MeireMiriam BauwensHannah VerdinFrauke CoppietersEva ScheiffertNicolas DeconinckThomas LangmannElfride 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

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

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

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

A case of dendritic cell, monocyte, B and NK lymphoid deficiency (DCML)

Melissa DullaersTessa KerreFrauke CoppietersDorine SichienNancy De CabooterVeronique DebackerReinhart SpeeckaertPaul CouckeElias DebaereFilomeen Haerynck et al.

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

Disruption of the basal body protein POC1B results in autosomal-recessive cone-rod dystrophy

Susanne RoosingIdeke JC LamersErik de VriezeL Ingeborgh van den BornStanley LambertusHeleen H ArtsTheo A PetersCarel B HoyngHannie KremerLisette Hetterschijt et al.

A1 Journal Article in AMERICAN JOURNAL OF HUMAN GENETICS

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

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

Kristof Van SchilMarcus KarlstetterFrançoise MeireMiriam BauwensHannah VerdinFrauke CoppietersEva ScheiffertNicolas DeconinckThomas LangmannElfride De Baere

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

Kristof Van SchilMarcus KarlstetterFrançoise MeireMiriam BauwensHannah VerdinFrauke CoppietersEva ScheiffertNicolas DeconinckThomas LangmannElfride De Baere

Homozygous deletion of glutamate receptor gene GRID2 causes new hotfoot mutant phenotype, characterized by early-onset cerebellar ataxia and retinal dystrophy

Kristof Van SchilMarcus KarlstetterFrançoise MeireMiriam BauwensHannah VerdinFrauke CoppietersEva ScheiffertNicolas DeconinckThomas LangmannElfride De Baere

Homozygous deletion of glutamate receptor gene GRID2 causes new human hotfoot mutant phenotype, characterized by early-onset cerebellar ataxia and retinal dystrophy

Kristof Van SchilMarcus KarlstetterFrançoise MeireMiriam BauwensHannah VerdinFrauke CoppietersEva ScheiffertNicolas DeconinckThomas LangmannElfride 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

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

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

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 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

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

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

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

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

Identification of a novel, homozygous PCDH15 deletion in an USH1 patient using identity-by-descent mapping with a high-density SNP microarray

Miriam BauwensFrauke CoppietersHannah VerdinFrançoise MeireElfride De Baere

Identification of a novel, homozygous PCDH15 deletion in an USH1 patient using identity-by-descent mapping with a high-density SNP microarray

Miriam BauwensFrauke CoppietersHannah VerdinFrançoise MeireElfride De Baere

Identification of a novel, homozygous PCDH15 deletion in an USH1 patient using identity-by-descent mapping with a high-density SNP microarray

Miriam BauwensFrauke CoppietersHannah VerdinFrançoise MeireElfride 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

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.

TMEM126A mutation in a Moroccan family with autosomal recessive optic atrophy

Julie DésirFrauke CoppietersNicole van RegemorterElfride De BaereMarc AbramowiczMonique Cordonnier

A1 Journal Article in MOLECULAR VISION

2011

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

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

IQCB1 Mutations in Patients with Leber Congenital Amaurosis

Alejandro Estrada-CuzcanoRobert K KoenekoopFrauke CoppietersSusanne KohlIrma LopezRob WJ CollinElfride De BaereDebbie RoeleveldJonah MarekAntje Bernd et al.

A1 Journal Article in INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE

2010

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

2009

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

Local Complement Activation in Nasal Polyposis

Thibaut Van ZeleFrauke CoppietersPhilippe GevaertGabriële HoltappelsPaul Van CauwenbergeClaus Bachert

A1 Journal Article in LARYNGOSCOPE

2007

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