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Miriam Bauwens

Prijzen & Erkenningen

96 Resultaten

2024

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

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

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

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

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.

U Artikel in een tijdschrift in INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE

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

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 di!erential 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 Suri [missing]Elfride De Baere

U Artikel in een tijdschrift in European Journal of Human Genetics

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

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

Victor Lopez SorianoElfride De BaereMiriam BauwensEva D'haene

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 BroeckQuinten MahieuMattias Van HeetveldeIrina BalikovaSascha VermeerJulie De ZaeytijdBart Leroy 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

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

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 CauwenberghAnne 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 CauwenberghAnja Kathrin MayerMattias Van HeetveldeMiriam BauwensHannah Verdin et al.

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

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 Mohammed HMiriam BauwensSOPHIE WALRAEDTPatricia DelbekeJulie De ZaeytijdPhilippe KestelynFrançoise MeireSandra JanssensCaroline Van CauwenberghHannah Verdin et al.

A1 Artikel in een tijdschrift in INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE

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

Basamat Almoallem Mohammed HMiriam 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 Mohammed HMiriam BauwensSOPHIE WALRAEDTPatricia DelbekeJulie De ZaeytijdBart LeroyElfride De Baere

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 Mohammed HMiriam 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 Mohammed HMiriam 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 Mohammed HMiriam 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'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

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 Mohammed HMiriam 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.