Research Explorer

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Researcher

Caroline Van Cauwenbergh

Publications & Research Data

Awards & Distinctions

63 Results

2023

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.

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

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

2022

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

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

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.

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

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

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

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

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 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

2020

Charting extracellular transcriptomes in the human biofluid RNA atlas

Eva HulstaertAnnelien MorlionFrancisco Avila CobosKimberly VerniersJustine NuytensEveline Vanden EyndeNurten YigitJasper AnckaertAnja GeertsPieter Hindryckx et al.

A1 Journal Article in CELL REPORTS

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

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

Expanded phenotypic spectrum of retinopathies associated with autosomal recessive and dominant mutations in PROM1

Marta Del Pozo-ValeroInmaculada Martin-MeridaBelen Jimenez-RolandoAna ArtecheAlmudena Avila-FernandezFiona Blanco-KellyRosa Riveiro-AlvarezCaroline Van CauwenberghElfride De BaereCarlo Rivolta et al.

A1 Journal Article in AMERICAN JOURNAL OF OPHTHALMOLOGY

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

The human biofluid RNA atlas : expanding the liquid biopsy field beyond the blood stream

Eva HulstaertKimberly VerniersJustine NuytensEveline Vanden EyndeNurten YigitJasper AnckaertAnja GeertsPeggy JacquesGuy BrusselleTHIERRY DERVEAUX 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

2018

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

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

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

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

CNGB3 mutation spectrum including copy number variations in 552 achromatopsia patients

Anja K MayerCaroline Van CauwenberghChristine RotherBritta BaumannPeggy ReuterElfride De BaereBernd WissingerSusanne Kohl

A1 Journal Article in HUMAN MUTATION

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

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.

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

2016

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

2015

Differential module analysis in neuroblastoma regulatory networks

Robrecht CannoodtAnneleen BeckersCaroline Van CauwenberghFranki SpelemanKatleen De PreterYvan Saeys

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

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

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

Differential module analysis in neuroblastoma regulatory networks

Robrecht CannoodtAnneleen BeckersCaroline Van CauwenberghKatleen De PreterYvan Saeys

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

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

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

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

Quantitative analysis of venation patterns of Arabidopsis leaves by supervised image analysis

Stijn DhondtDirk Van HaerenborghCaroline Van CauwenberghRoeland MerksWilfried PhilipsGerrit BeemsterDirk Inzé

A1 Journal Article in PLANT JOURNAL

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.

2010

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