Research Explorer

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Onderzoeker

Miriam Bauwens

Publicaties & datasets

Prijzen & Erkenningen

128 Resultaten

2026

De novo and inherited dominant variants in U4 and U6 snRNA genes cause retinitis pigmentosa

Mathieu QuinodozKim RodenburgZuzana CvackovaKarolina KaminskaSuzanne E. de BruijnAna Belen Iglesias-RomeroErica G. M. BoonenMukhtar UllahNick ZomerMarc Folcher et al.

U Artikel in een tijdschrift in NATURE GENETICS

2025

Bi-allelic loss-of-function variants in POC5 cause a syndromic retinal, endocrine, and neuromuscular ciliopathy

Anneke T. Vulto-van SilfhoutIngrid M. JazetSuzanne YzerJeroen PasSerwet DemirdasElisabeth F. C. Van RossumAlberta A. H. J. ThiadensRonald Van BeekLonneke Haer-WigmanDaniela Q. C. M. Barge-Schaapveld et al.

U Artikel in een tijdschrift in GENETICS IN MEDICINE

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

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

A1 Artikel in een tijdschrift in AMERICAN JOURNAL OF HUMAN GENETICS

De novo and inherited dominant variants in U4 and U6 snRNAs cause retinitis pigmentosa

Mathieu QuinodozKim RodenburgZuzana CvackovaKarolina KaminskaSuzanne E de BruijnAna Belén Iglesias-RomeroErica G M BoonenMukhtar UllahNick ZomerMarc Folcher et al.

Discovery, replication and characterization of a novel dominantRPE65-related retinopathy due to founder variant p.(E519K) expanding the therapeutic potential

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

Expanding the genetic landscape of Usher syndrome type IV caused by pathogenic ARSG variants

Miriam BauwensVincent De ManIsabelle AudoIrina BalikovaWadih M. ZeinVasily SmirnovSebastian HeldSascha VermeerElke LoosJulie Jacob et al.

A1 Artikel in een tijdschrift in CLINICAL GENETICS

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

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

A1 Artikel in een tijdschrift in STEM CELL RESEARCH

In-depth phenotypic study of a Novel Autosomal Dominant RPE65-related Retinal Dystrophy

Filip Van Den BroeckEline Van VoorenManon Van HauteMarieke De BruyneStijn Van de SompeleMattias Van HeetveldeQuinten MahieuSheetal UppalEugenia PoliakovT. Michael Redmond et al.

Lysosomal macular dystrophy is a novel ocular phenotype associated with biallelic variants affecting AP-5/ SPG11/SPG15 complex

Cristina Moreira SantosKarolina KaminskaMaximilian PfauLaura KuehleweinAndrew BrowningFrancesca CancellieriMathieu QuinodozAbigail MoyeMiriam BauwensSiying Lin et al.

Novel genetic cause of specific macular dystrophy due to biallelic variants in three genes encoding subunits of the AP-5 complex

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

Regulation of non-canonical expression of ABCA4 in the retinal pigment epithelium by RPE-specific cis-regulation

Miriam BauwensVictor Lopez SorianoAlfredo Dueñas ReyGiulia AscariMunever Burcu CicekdalQuinten MahieuAndy WillaertEva D'haeneKris VleminckxElfride De Baere

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

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

A1 Artikel in een tijdschrift in INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE

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

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

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 Artikel in een tijdschrift in NPJ GENOMIC MEDICINE

Variants in three genes encoding distinct subunits of the vesicular AP-5 complex are novel causes of recessive macular dystrophy

Karolina KaminskaFrancesca CancellieriMathieu QuinodozAbigail R. MoyeMiriam BauwensSiying LinLaura KuehleweinBart LeroyOmar Abdul Rahman MahrooMaximilian Pfau et al.

2024

A multi-omics approach increases the diagnostic yield 'beyond the exome' in unsolved patients with inherited eye diseases

Miriam BauwensMarta del Pozo ValeroMarieke De BruyneFilip Van Den BroeckQuinten MahieuMattias Van HeetveldeStijn Van de SompeleAlfredo Dueñas ReyAudrey MeunierThomy de Ravel et al.

A novel RPE65-related dominant retinopathy caused by founder variant c.1555G>A p.(Glu519Lys) enriched in Belgian patients with a recognizable pattern dystrophy spectrum

Eline Van VoorenFilip Van Den BroeckEline GeensMarieke De BruyneStijn Van de SompeleQuinten MahieuSheetal UppalEugenia PoliakovMichael T. RedmondJulie De Zaeytijd et al.

An integrated approach to uncover the genetic architecture of inherited blindness in a consanguineous Iranian cohort

Lieselot VinckeKristof Van SchilMarieke De BruyneQuinten MahieuMarta del Pozo ValeroMattias Van HeetveldeToon RosseelEbrahim Al-HajjAstrid RombautSarah Van Malderen et al.

Autozygome-guided exome-first study in a consanguineous cohort with early-onset retinal disease uncovers an isolated RIMS2 phenotype and a retina-enriched RIMS2 isoform

Marta del Pozo ValeroBasamat Almoallem MohammedAlfredo Dueñas ReyQuinten MahieuMattias Van HeetveldeLaila JeddawiMiriam BauwensElfride De Baere

A1 Artikel in een tijdschrift in CLINICAL GENETICS

Closing the gap: overcoming the challenges of RPGR ORF15 sequencing, a target for gene therapy of X-linked retinitis pigmentosa

Stijn Van de SompeleMarieke De BruyneMattias Van HeetveldeToon RosseelBart LeroyJulie De ZaeytijdBrecht GuillemynKathleen ClaesKim De LeeneerMiriam Bauwens et al.

U Artikel in een tijdschrift in EUROPEAN JOURNAL OF HUMAN 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 Artikel in een tijdschrift in GENOME MEDICINE

Comparative 3D genome analysis between neural retina and retinal pigment epithelium reveals differential cis-regulatory interactions at retinal disease loci

Eva D'haeneVictor Lopez SorianoPedro Manuel Martínez-GarcíaSoraya KalayanamontriAlfredo Dueñas ReyAna Sousa-OrtegaSilvia NaranjoStijn Van de SompeleLies VantommeQuinten Mahieu et al.

A1 Artikel in een tijdschrift in GENOME BIOLOGY

Enhancing Variant Curation Guidelines to Optimize Clinical Genetic Testing for ABCA4 Retinopathies Utilizing the ClinGen Framework

Kristy LeeAmber WaddellC. Blair ComptonStephanie S. CornelisAmy DameronMarieke De BruyneMiriam BauwensMathieu QuinodozEva LenassiRobyn Jamieson et al.

Eye2Gene: a novel AI algorithm enables phenotype-driven gene prioritisation directly from retinal scans in inherited retinal diseases

Nikolas PontikosWilliam WoofMiriam BauwensSaoud Al-KhuzaeiBehnam JavanmardiMichalis GeorgiouMalena Daich VarelaThales Antonio Cabral De GuimaraesMuhammad MoghulAlice Davidson 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 Artikel in een tijdschrift 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

U Artikel in een tijdschrift in NATURE COMMUNICATIONS

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

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

A1 Artikel in een tijdschrift in AMERICAN JOURNAL OF HUMAN GENETICS

Proof-of-concept for multiple AON delivery by a single U7snRNA vector to restore splicing defects in ABCA4

Nuria Suárez-HerreraIris B. RiswickIrene Vázquez-DomínguezLonneke DuijkersDyah W. KarjosukarsoDavide PiccoloMiriam BauwensElfride De BaereMichael E. CheethamAlejandro Garanto et al.

A1 Artikel in een tijdschrift in MOLECULAR THERAPY

Regulation of non-canonical expression of ABCA4 by an RPE-specific enhancer with implications in ABCA4-associated disease

Victor Lopez SorianoAlfredo Dueñas ReyGiulia AscariMünevver Burcu CicekdalEva D'haeneQuinten MahieuHanna De SaffelAndy WillaertKris VleminckxJuan Jesus Tena-Aguilar et al.

The retina-specific 3D genome and the impact of structural variation in inherited retinal disease

Eva D'haenePedro Manuel Martínez-GarcíaLara ColomboVictor Sanchez GayaAlvaro Rada-IglesiasSarah VergultSusanne KohlJuan Ramon Martinez-MoralesMiriam BauwensJuan J Tena et al.

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

Alfredo Dueñas ReyFrauke CoppietersElfride De BaereMiriam Bauwens

Variant curation of the largest compendium of FOXL2 coding and non-coding sequence and structural variants to improve precision medicine in BPES

Charlotte MattonJulie Van De VeldeMiriam BauwensEva D'haeneSally HoogheDave BunyanHannah VerdinElfride De Baere

2023

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

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

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

Eline Van VoorenSuzanne KohlCarlo RivoltaBart LeroyMiriam BauwensElfride De Baere

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

Eline Van VoorenSuzanne KohlCarlo RivoltaBart LeroyMiriam BauwensElfride De Baere

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

CEP162 deficiency causes human retinal degeneration and reveals a dual role in ciliogenesis and neurogenesis

Nafisa NuzhatKristof Van SchilSandra LiakopoulosMiriam BauwensAlfredo Dueñas ReyStephan KaesebergMelanie JaegerJason R. WillerJennifer WinterHanh M. Truong et al.

A1 Artikel in een tijdschrift in JOURNAL OF CLINICAL INVESTIGATION

Comparative 3D genome analysis between neural retina and RPE reveals diferential cis-regulatory interactions at retinal disease loci

Eva D'haeneVictor Lopez SorianoPedro Manuel Martinez-GarciaSoraya KalayanamontriAlfredo Dueñas ReyAna Sousa-OrtegaSilvia NaranjoStijn Van de SompeleLies VantommeQuinten Mahieu et al.

Comparative 3D genome analysis between neural retina and RPE reveals differential cis-regulatory interactions at retinal disease loci

Eva D'haenePedro Manuel Martinez-GarciaVictor Lopez SorianoSoraya KalayanamontriAlfredo Dueñas ReyLies VantommeSarah VergultAna Bastos NetoJosé Luis Gomez-SkarmetaJuan Ramon Martinez-Morales et al.

Comparative 3D genome analysis between neural retina and RPE reveals differential cis-regulatory interactions at retinal disease loci

Eva D'haeneVictor Lopez SorianoPedro Manuel Martínez-GarcíaSoraya KalayanamontriAlfredo Dueñas ReyAna Sousa-OrtegaSilvia NaranjoStijn Van de SompeleLies VantommeQuinten Mahieu et al.

Compendium of clinical variant classification for 2,246 unique ABCA4 variants to clarify variant pathogenicity in Stargardt disease using a modified ACMG/AMP framework

Stephanie CornelisMiriam BauwensLonneke Haer-WigmanMarieke De BruyneMadhulatha PantrangiElfride De BaereRobert B. HufnagelClaire-Marie DhaenensFrans P. M. Cremers

A1 Artikel in een tijdschrift in HUMAN MUTATION

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 Artikel in een tijdschrift in FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY

Deciphering the genetic architecture of inherited retinal diseases in the Iranian population by integrated exome sequencing

Miriam BauwensKristof Van SchilMarieke De BruyneMattias Van HeetveldeQuinten MahieuToon RosseelEbrahim Al-HajjSarah Van MalderenFatemeh SuriElfride De Baere

Differential 3D genome topology shapes the regulatory landscapes of IRD genes in human neural retina and retinal pigment epithelium

Eva D'haenePedro Martinez-GarciaVictor Lopez SorianoMiriam BauwensLies VantommeSarah VergultJuan Martinez-MoralesJuan TenaElfride De Baere

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.

Multi-omics in human retina to decode cis-regulatory landscapes of inherited retinal disease genes

Victor Lopez SorianoElfride De BaereMiriam BauwensEva D'haene

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

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

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

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

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

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

2022

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

Eline Van VoorenSuzanne KohlBart LeroyMiriam BauwensElfride De Baere

Personalized genetic counseling for Stargardt disease : offspring risk estimates based on variant severity

Stephanie CornelisEsmee H. RunhartMiriam BauwensZelia CorradiElfride De BaereSusanne RoosingLonneke Haer-WigmanClaire-Marie DhaenensAnneke T. Vulto-van SilfhoutFrans P.M. Cremers

A1 Artikel in een tijdschrift in AMERICAN JOURNAL OF HUMAN GENETICS

2021

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 Artikel in een tijdschrift in FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY

2020

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 Artikel in een tijdschrift in CLINICAL GENETICS

Mapping the cis-regulatory architecture of the human retina reveals noncoding genetic variation in disease

Timothy J. CherryMarty G. YangDavid A. HarminPeter TaoAndrew E. TimmsMiriam BauwensRando AllikmetsEvan M. JonesRui ChenElfride De Baere et al.

A1 Artikel in een tijdschrift in PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Resolving the dark matter of ABCA4 for 1054 Stargardt disease probands through integrated genomics and transcriptomics

Mubeen KhanStephanie S. CornelisMarta Del Pozo-ValeroLaura WhelanEsmee H. RunhartKetan MishraFemke BultsYahya AlSwaitiAlaa AlTalbishiElfride De Baere et al.

A1 Artikel in een tijdschrift in GENETICS IN MEDICINE

2019

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

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

A1 Artikel in een tijdschrift in GENETICS IN MEDICINE

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

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

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

Deep-intronic ABCA4 variants explain missing heritability in Stargardt disease and allow correction of splice defects by antisense oligonucleotides

Riccardo SangermanoAlejandro GarantoMubeen KhanEsmee H RunhartMiriam BauwensNathalie M BaxL Ingeborgh van den BornMuhammad Imran KhanStéphanie S CornelisJoke BGM Verheij et al.

A1 Artikel in een tijdschrift in GENETICS IN MEDICINE

Identification of splice defects due to noncanonical splice site or deep‐intronic variants in ABCA4

Zeinab FadaieMubeen KhanMarta Del Pozo‐ValeroStéphanie S. CornelisCarmen AyusoFrans P. M. CremersSusanne RoosingRando AllikmetsMiriam BauwensMohammad Ghofrani et al.

A1 Artikel in een tijdschrift in HUMAN MUTATION

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.

Resolving the dark matter of ABCA4 for 1,054 Stargardt disease probands through integrated genomics and transcriptomics

Mubeen KhanStéphanie S. CornelisMarta del Pozo-ValeroLaura WhelanEsmee H. RunhartKetan MishraFemke BultsYahya AlSwaitiAlaa AlTabishiElfride De Baere et al.

2018

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

Sarah NaessensAlejandro GarantoFrauke CoppietersMiriam BauwensIrina BalikovaBart LeroySilvia AlbertRob CollinElfride De Baere

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

Sarah NaessensAlejandro GarantoMiriam BauwensRiccardo SangermanoIrina BalikovaBart LeroyFrans CremersElfride De BaereRob Collin

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 Artikel in een tijdschrift in GENETICS IN MEDICINE

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

Miriam BauwensElfride De BaereBart Leroy

2017

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

Sarah NaessensAlejandro GarantoMiriam BauwensRiccardo SangermanoIrina BalikovaBart LeroyFrans CremersElfride De BaereRob Collin

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

Sarah NaessensAlejandro GarantoMiriam BauwensRiccardo SangermanoIrina BalikovaBart LeroyFrans CremersElfride De BaereRob Collin

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 Artikel in een tijdschrift in GENETICS IN MEDICINE

Exploring the role of cis-acting non-coding variation in inherited blindness : the ABCA4 gene in Stargardt disease as a model

Hidden genetic variation in Stargardt disease

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.

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

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

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

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

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

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

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

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 Artikel in een tijdschrift 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.

Photoreceptor progenitor mRNA analysis reveals exon skipping resulting from the ABCA4 c.5461-10T/C mutation in Stargardt disease

Riccardo SangermanoNathalie M BaxMiriam BauwensL Ingeborgh Van den BornElfride De BaereAlejandro GarantoRob WJ CollinAngelique SA Goercharn-RamlalAnke HA den Engelsman-van DijkKlaus Rohrschneider et al.

A1 Artikel in een tijdschrift 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 Artikel in een tijdschrift in HUMAN MUTATION

Colour vision in Stargardt disease

Tine VandenbrouckeRonald BuylJulie De ZaeytijdMiriam BauwensAndré UvijlsElfride De BaereBart Leroy

A1 Artikel in een tijdschrift in OPHTHALMIC RESEARCH

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 Artikel in een tijdschrift 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

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 Artikel in een tijdschrift in HUMAN MUTATION

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 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 Artikel in een tijdschrift in INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE

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

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

A1 Artikel in een tijdschrift in MOLECULAR GENETICS & GENOMIC MEDICINE

2014

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

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

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

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

Exploring the role of cis-acting pre-mRNA splicing dynamics in the pathogenesis and treatment of Stargardt disease

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 Artikel in een tijdschrift in GENETICS IN MEDICINE

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

Basamat Almoallem MohammedMiriam BauwensSophie WalraedtPatricia DelbekeJulie De ZaeytijdBart LeroyElfride De Baere

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

Basamat Almoallem MohammedMiriam BauwensSOPHIE WALRAEDTPatricia DelbekeJulie De ZaeytijdBart LeroyElfride De Baere

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

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

2013

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'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 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

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 Zaeytijd

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

Identification of a novel disease gene in a consanguineous family with a retinal ciliopathy

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

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.