Research Explorer

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Researcher

Elfride De Baere

Publications & Research Data

Awards & Distinctions

479 Results

2025

A novel recurrent ARL3 variant c.209G>A p.(Gly70Glu) causes variable non-syndromic dominant retinal dystrophy with defective lipidated protein transport in human retinal stem cell models

Julio C Corral-SerranoVeronika VaclavikStijn Van de SompeleKarolina KaminskaKatarina JovanovicPascal EscherFilip Van Den BroeckFrancesca CancellieriVasileios ToulisBart Leroy et al.

A1 Journal Article in HUMAN MOLECULAR GENETICS

Autistic behavior is a common outcome of biallelic disruption of PDZD8 in humans and mice

Andreea D. PantiruStijn Van de SompeleClemence LigneulCamille ChatelainChristophe BarreaJason P. LerchBeatrice M. FilippiSerpil AlkanElfride De BaereJamie Johnston et al.

A1 Journal Article in MOLECULAR AUTISM

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 Journal Article in AMERICAN JOURNAL OF HUMAN 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

Characterising the refractive error in paediatric patients with congenital stationary night blindness : a multicentre study

Austin D. IgelmanElizabeth WhiteAlaa TayyibLesley EverettAjoy VincentElise HeonChristina ZeitzMichel MichaelidesOmar A. MahrooMohamed Katta et al.

A1 Journal Article in BRITISH JOURNAL OF OPHTHALMOLOGY

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.

Elevated plasma complement factors in CRB1-associated inherited retinal dystrophies

Lude MoekotteJoke H. de BoerSanne HiddinghAafke de LigtXuan-Thanh-An NguyenCarel B. HoyngChris F. InglehearnMartin MckibbinTina M. LameyJennifer A. Thompson et al.

A1 Journal Article in INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE

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.

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 Journal Article 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 Journal Article in STEM CELL RESEARCH

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

Inherited retinal disease gene panel in posterior or panuveitis with dystrophic features

Stéphane AbramowiczAudrey MeunierDafina DraganovaLaure CaspersMarieke De BruyneStijn Van de SompeleElfride De BaereBart LeroyLaurence PostelmansFrançois Willermain

A1 Journal Article in RETINA-THE JOURNAL OF RETINAL AND VITREOUS DISEASES

Intermediate uveitis in common variable immunodeficiency (CVID) associated with a heterozygous variant in the TNFRSF13B gene

Mathijs OsaerWim TerrynElfride De BaereCiel De VriendtFilomeen HaerynckTessa KerreElke O. Kreps

A2 Journal Article in RETINAL CASES & BRIEF REPORTS

omicsGMF : a multi-tool for dimensionality reduction, batch correction and imputation applied to bulk- and single cell proteomics data

Alexandre SegersCristian CastiglioneChristophe VanderaaElfride De BaereLennart MartensDavide RissoLieven Clement

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 Journal Article 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.

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.

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

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

A1 Journal Article in NPJ GENOMIC MEDICINE

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

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 Journal Article in CLINICAL GENETICS

Biallelic RXFP2 variants lead to congenital bilateral cryptorchidism and male infertility, supporting a role of RXFP2 in spermatogenesis

Hannes SyrynJulie Van De VeldeGriet De ClercqHannah VerdinAnnelies DheedeneFrank PeelmanAndrew SinclairKatie L AyersRoss A D BathgateMartine Cools et al.

A1 Journal Article in HUMAN REPRODUCTION

Characteristics of autosomal dominant WFS1-associated optic neuropathy and its comparability to OPA1-associated autosomal dominant optic atrophy

Cansu de MuijnckLonneke Haer-WigmanJudith A. M. van EverdingenTanya LushchykPam A. T. HeutinckMarieke F. van DoorenAnneke J. A. KievitVirginie J. M. VerhoevenMarleen E. H. SimonRosemarie A. Wasmann et al.

A1 Journal Article in SCIENTIFIC REPORTS

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

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 Journal Article in GENOME BIOLOGY

CRISPR/Cas9 mediated disruption of an evolutionary conserved putative enhancer in the mab21l2 locus induces developmental eye anomalies in Xenopus tropicalis

Münevver Burcu CicekdalFabiola CeroniRichard HoltThomas NaertSoeren S. LienkampElena SorokinElena SeminaNicolas ChassaingNicola RaggeElfride De Baere et al.

Decoding the non-coding regulatory genome : modelling of eye enhancerophathies in Xenopus tropicalis

Münevver Burcu CicekdalKris VleminckxElfride De BaereThomas Naert

Deletion upstream of MAB21L2 highlights the importance of evolutionarily conserved non-coding sequences for eye development

Fabiola CeroniMünevver Burcu CicekdalRichard HoltElena SorokinaNicolas ChassaingSamuel ClokieThomas NaertLidiya V. TalbotSanaa MuheisenDorine A. Bax et al.

A1 Journal Article in NATURE COMMUNICATIONS

Diagnostic yield of an inherited retinal disease gene panel in retinopathy of unknown origin

Stéphane AbramowiczAudrey MeunierLaurence PostelmansLaure CaspersFrancis CorazzaMarieke De BruyneStijn Van de SompeleElfride De BaereBart LeroyFrançois Willermain et al.

A1 Journal Article in RETINA-THE JOURNAL OF RETINAL AND VITREOUS DISEASES

ERN-EYE virtual clinic for rare eye diseases as a successful effort towards solving complex and rare ophthalmic conditions in Europe

Monika Grudzinska PechhackerFrancesco RotoloDorothee LerouxAmelie GavardCaroline Wernert-IbergMaximin BeginBernard CoupezPetra LiskovaDaniel BoehringerFrank G. Holz 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.

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.

Evolutionary origin of Hoxc13-dependent skin appendages in amphibians

Marjolein CarronAttila Placido SachslehnerMünevver Burcu CicekdalInge BruggemanSuzan DemuynckBahar GolabiElfride De BaereWim DeclercqErwin TschachlerKris Vleminckx et al.

A1 Journal Article in NATURE COMMUNICATIONS

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.

Genetic testing of patients with inherited retinal diseases in the European countries : an international survey by the European Vision Institute

Giacomo CalzettiKerstin SchwarzwalderGiorgia OttonelliKarolina KaminskaRupert Wolfgang StraussElfride De BaereBart LeroyIsabelle AudoChristina ZeitzClaus Cursiefen et al.

A1 Journal Article in OPHTHALMIC RESEARCH

Immunogenomics solves missing heritability and ends the diagnostic odyssey in RAG1-SCID

Marieke De BruyneLore PottieStijn Van de SompeleNancy De CabooterDelfien BogaertLevi HosteToon RosseelKim De LeeneerVictoria BordonJana Neirinck et al.

In memory of Ludwine Messiaen, Ph.D. (1956-2024)

Elfride De BaereEric LegiusReiner A. VeitiaKathleen Claes

Insight into the role of TXNRD2 in steroidogenesis through a novel homozygous TXNRD2 splice variant

Cecile BrachetAlexander LaemmleMartine CoolsKay-Sara SauterElfride De BaereArnaud VanlanderAmit V. PandeyTherina Du ToitClarissa D. VoegelClaudine Heinrichs et al.

Insight into the role of TXNRD2 in steroidogenesis through a novel homozygous TXNRD2 splice variant

Cécile BrachetAlexander LaemmleMartine CoolsKay-Sara SauterElfride De BaereArnaud VanlanderAmit V PandeyTherina du ToitClarissa D VoegelClaudine Heinrichs et al.

A1 Journal Article in EUROPEAN JOURNAL OF ENDOCRINOLOGY

Juggling offsets unlocks RNA-seq tools for fast scalable differential usage, aberrant splicing and expression analyses

Alexandre SegersJeroen GilisMattias Van HeetveldeElfride De BaereLieven Clement

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

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 Journal Article 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 Journal Article 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.

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

Edith De BruyckerOlivier ZwaenepoelFrauke CoppietersJan GettemansElfride De Baere

Structural variants disrupt a critical regulatory region downstream of FOXG1

Lisa HamerlinckEva D'haeneNore Van LoonMaria del Rocio Pérez BacaSarah VergultBert CallewaertElfride De BaereBjörn MentenLies VantommeMichael B Vaughan

The clinical use of exome sequencing to diagnose PCD patients

Lore PottieSofie SymoensElfride De BaereKathleen Claes

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.

Towards uncovering the role of incomplete penetrance in maculopathies through sequencing of 105 disease-associated genes

Rebekkah J. Hitti-MalinDaan M. PannemanZelia CorradiErica G. M. BoonenGaluh AstutiClaire-Marie DhaenensHeidi StoehrBernhard H. F. WeberDror SharonEyal Banin et al.

A1 Journal Article in BIOMOLECULES

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 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

Benefits of whole exome sequencing to advance the genetic diagnosis in patients with differences (disorders) of sex development

Hannes SyrynHannah VerdinJulie Van De VeldeMarianne BeckerCécile BrachetMarieke Den BrinkerSylvia DepoorterJulie FudvoyeDaniel KlinkPhilippe Lysy et al.

BeSolveRD : the Belgian genome resource to resolve rare diseases

Mathilde GeysensWouter BossuytElfride De BaereKim De LeeneerKoenraad DevriendtAnnelies DheedeneAime LumakaJeroen LuytenGert MatthijsBjörn Menten et al.

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 Journal Article 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 Journal Article 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 Journal Article 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

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.

Etiology, histology and long-term outcome of bilateral testicular regression : a large Belgian series

Lloyd TackCecile BrachetVeronique BeauloyeClaudine HeinrichsE BorosKathleen De WaeleSaskia van der StraatenSara Van AkenAnnelies LemayAnne Rochtus et al.

A1 Journal Article in HUMAN REPRODUCTION OPEN

HRAS-related epidermal nevus syndromes : expansion of the spectrum with first branchial arch defects

Aude BeyensCharlotte LietaerKathleen ClaesElfride De BaereMarleen GoeteynBob LerutHannes SyrynOlivier VanakkerJoni Van der MeulenLieve Vanwalleghem et al.

A1 Journal Article in CLINICAL GENETICS

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.

Interaction map of cis-regulatory elements controlling ABCA4 in human retina

Soraya KalayanamontriAna NetoPedro Manuel Martinez-GarciaVictor Lopez SorianoJose Luis Gomez-SkarmetaElfride De BaereJuan Ramon Martinez Morales Martinez-MoralesJuan Jesus Tena-Aguilar

Mapping the 3D genome of the human retina and its role in retinal disease

Eva D'haeneVictor Lopez SorianoLies VantommeBernd WissingerSusanne KohlSarah VergultElfride De Baere

Modelling of rare diseases and developmental processes in Xenopus tropicalis : from retinal degeneration to epidermal structures

Marjolein CarronElfride De BaereKris VleminckxKristof Van Schil

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

Victor Lopez SorianoElfride De BaereMiriam BauwensEva D'haene

Multi-omics profiling, in vitro and in vivo approaches to interpret non-coding variation in inherited retinal diseases

Elfride De Baere

New noncoding base pair mutation at the identical locus as the original NCMD/MCDR1 in a Mexican family, suggesting a mutational hotspot

Kent W. SmallStijn Van de SompeleJessica AvetisjanNitin UdarSteven AgemyElfride De BaereFadi S. Shaya

A2 Journal Article in JOURNAL OF VITREORETINAL DISEASES

Optic nerve involvement in CACNA1F-related disease : observations from a multicentric case series

Elisa MarzialiFilip Van Den BroeckSara BargiacchiPina FortunatoRoberto CaputoAndrea SodiJulie De ZaeytijdVittoria MurroDario Pasquale MuccioloDario Giorgio et al.

A1 Journal Article in OPHTHALMIC GENETICS

Paediatric cataract surgery with 27G vitrectomy instrumentation : the Ghent University Hospital experience

Hwei Wuen ChanFilip Van Den BroeckAxelle CoolsSOPHIE WALRAEDTInge JoniauHannah VerdinIrina BalikovaStefaan Van NuffelPatricia DelbekeElfride De Baere et al.

A1 Journal Article in FRONTIERS IN MEDICINE

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

RXFP2 : validating its role in autosomal recessive bilateral cryptorchidism and a novel association with male infertility

Hannes SyrynHannah VerdinJulie Van De VeldeFrank PeelmanMarianne BeckerCecile BrachetMarieke den BrinkerSylvia DepoorterJulie FudvoyeDaniel Klink 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

Spleen function is reduced in individuals with NR5A1 variants with or without a difference of sex development : a cross-sectional study

Martine CoolsCelien GrijpJana NeirinckSimon TavernierPetra SchelstraeteJulie Van De VeldeLieve MorbéeElfride De BaereCarolien BonroyYolande van Bever et al.

A1 Journal Article in EUROPEAN JOURNAL OF ENDOCRINOLOGY

Structural variants disrupt a critical regulatory region downstream of FOXG1

Lisa HamerlinckEva D'haeneSarah VergultNore Van LoonMaria del Rocio Pérez BacaLies VantommeMichael B VaughanElfride De BaereBert CallewaertBjörn Menten

Structural variants disrupt a critical regulatory region downstream of FOXG1

Lisa HamerlinckEva D'haeneMaria del Rocio Pérez BacaLies VantommeNore Van LoonBjörn MentenBert CallewaertElfride De BaereSarah Vergult

Structural variants disrupt a critical regulatory region downstream of FOXG1

Lisa HamerlinckEva D'haeneMichael B VaughanMaria del Rocio Pérez BacaNore Van LoonLies VantommeBjörn MentenBert CallewaertElfride De BaereSarah Vergult

Structural variants disrupt a critical regulatory region downstream of FOXG1

Eva D'haeneLies VantommeBjörn MentenBert CallewaertElfride De BaereSarah Vergult

Targeted sequencing using single-molecule Molecular Inversion Probes reveals severe bi-allelic ABCA4 alleles in probands diagnosed with Leber congenital amaurosis

Daan PannemanSusanne RoosingErica BoonenChris InglehearnMartin McKibbinElfride De BaereThomy de RavelSascha VermeerAndrea VincentRobert Koenekoop et al.

The evolving role of medical geneticists in the era of gene therapy : an urgency to prepare

Jerry VockleyNicola Brunetti-PierriWendy K. ChungAngus J. ClarkeNina GoldRobert C. GreenStephen KaganTara MorozChristian P. SchaafMartin Schulz et al.

Editorial material

The role of MCM9 in the etiology of Sertoli cell-only syndrome and premature ovarian insufficiency

Iulia PotoracMarie LaterreOlivier MalaiseVlad NechiforCorinne FasquelleOrphal ColleyeNancy DetrembleurHannah VerdinSofie SymoensElfride De Baere et al.

A1 Journal Article in JOURNAL OF CLINICAL MEDICINE

Toward reporting standards for the pathogenicity of variant combinations involved in multilocus/oligogenic diseases

Sofia PapadimitriouBarbara GravelCharlotte NachtegaelElfride De BaereBart LoeysMiikka VikkulaGuillaume SmitsTom Lenaerts

A2 Journal Article in HUMAN GENETICS AND GENOMICS ADVANCES

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

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2022

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

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Blepharophimosis, ptosis, and epicanthus inversus syndrome

Hannah VerdinCharlotte MattonElfride De Baere

Comprehensive variant spectrum of the CNGA3 gene in patients affected by achromatopsia

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A1 Journal Article in HUMAN MUTATION

Endocrine outcome and seminal parameters in young adult men born with hypospadias : a cross-sectional cohort study

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A1 Journal Article in EBIOMEDICINE

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

Stijn Van de SompeleElfride De BaereFrauke CoppietersKris Vleminckx

GTF3A mutations predispose to herpes simplex encephalitis by disrupting biogenesis of the host-derived RIG-I ligand RNA5SP141

Leslie NaesensSantoshi MuppalaDhiraj AcharyaJosephine NemegeerDelfien BogaertJung-Hyun LeeKatrien StaesVeronique DebackerPieter De BleserMarieke De Bruyne et al.

A1 Journal Article in SCIENCE IMMUNOLOGY

High myopia and vitreal veils in a patient with Poretti- Boltshauser syndrome due to a novel homozygous LAMA1 mutation

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A1 Journal Article in OPHTHALMIC GENETICS

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

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

Julie De ZaeytijdBart LeroyElfride De BaereFrauke Coppieters

Mapping the 3D genome of the human retina and its role in retinal disease

Eva D'haeneVictor Lopez SorianoLies VantommeBernd WissingerSusanne KohlSarah VergultElfride De Baere

Multi-omics approach dissects cis-regulatory mechanisms underlying North Carolina macular dystrophy, a retinal enhanceropathy

Stijn Van de SompeleKent W. SmallMünevver Burcu CicekdalVictor Lopez SorianoEva D'haeneFadi S. ShayaSteven AgemyThijs Van der SnicktAlfredo Dueñas ReyToon Rosseel et al.

A1 Journal Article in AMERICAN JOURNAL OF HUMAN GENETICS

Multi-omics profiling, in vitro and in vivo enhancer assays dissect the cis-regulatory mechanisms underlying North Carolina macular dystrophy, a retinal enhanceropathy

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Mutations in RNU7-1 weaken secondary RNA structure, induce MCP-1 and CXCL10 in CSF, and result in Aicardi-Goutières syndrome with severe end-organ involvement

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A1 Journal Article in AMERICAN JOURNAL OF HUMAN GENETICS

Recommendations for whole genome sequencing in diagnostics for rare diseases

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A1 Journal Article in EUROPEAN JOURNAL OF HUMAN GENETICS

The genetic diagnosis of rare endocrine disorders of sex development and maturation : a survey among Endo-ERN centres

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A1 Journal Article in ENDOCRINE CONNECTIONS

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 novel duplication involving PRDM13 in a Turkish family supports its role in North Carolina macular dystrophy (NCMD/MCDR1)

Kent W. SmallStijn Van de SompeleKaren NuytemansAndrea VincentOzge Ozalp YuregirEmine CilogluCahfer SariyildizToon RosseelJessica AvetisjanNitin Udar et al.

A1 Journal Article in MOLECULAR VISION

A novel non-coding variant in DCLRE1C results in deregulated splicing and induces SCID through the generation of a truncated ARTEMIS protein that fails to support V(D)J recombination and DNA damage repair

Steven StrubbeMarieke De BruyneUlrich PannickeElien BeylsBart VandekerckhoveGeorges LeclercqElfride De BaereVictoria BordonAnne VralKlaus Schwarz et al.

A1 Journal Article in FRONTIERS IN IMMUNOLOGY

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

Adult-onset congenital central hypoventilation syndrome due to PHOX2B mutation

Antoon MeylemansPieter DepuydtElfride De BaereKatrien HertegonneEric DeromBart DermautDimitri Hemelsoet

A1 Journal Article in ACTA NEUROLOGICA BELGICA

Clinical characteristics and natural history of rho-associated retinitis pigmentosa : a long-term follow-up study

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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

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A1 Journal Article in INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE

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A1 Journal Article in BRITISH JOURNAL OF OPHTHALMOLOGY

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Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications

Irene Perea-RomeroGema GordoIonut F. IancuMarta Del Pozo-ValeroBerta AlmogueraFiona Blanco-KellyEster CarrenoBelen Jimenez-RolandoRosario Lopez-RodriguezIsabel Lorda-Sanchez et al.

A1 Journal Article in SCIENTIFIC REPORTS

Individuals with NR5A1 (SF1) mutations and atypical sex development and their asymptomatic family member carriers are at high risk of hyposplenism

Celien GrijpSimon TavernierJana NeirinckMaha Abdullhadi-AtwanJulie Van De VeldeDorien BaetensHannah VerdinLieve MorbéeElfride De BaereDavid Zangen et al.

Isolated maculopathy and moderate rod-cone dystrophy represent the milder end of the RDH12-related retinal dystrophy spectrum

Julie De ZaeytijdCaroline Van CauwenberghMarieke De BruyneMattias Van HeetveldeElfride De BaereFrauke CoppietersBart Leroy

A1 Journal Article in RETINA-THE JOURNAL OF RETINAL AND VITREOUS DISEASES

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

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

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

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

A1 Journal Article in FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY

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

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

Longitudinal phenotypic study of late-onset retinal degeneration due to a founder variant c.562C > A p.(Pro188Thr) in the C1QTNF5 gene

Julie De ZaeytijdFrauke CoppietersMarieke De BruyneJasper Van RoyenDimitri RoelsRani SixCaroline Van CauwenberghElfride De BaereBart Leroy

A1 Journal Article in OPHTHALMIC GENETICS

Mild Leber hereditary optic neuropathy (LHON) in a Western European family due to the rare Asian m.14502T>C variant in the MT-ND6 gene

Justine VandeputteMattias Van HeetveldeCaroline Van CauwenberghSara SenecaElfride De BaereBart LeroyJulie De Zaeytijd

A1 Journal Article in OPHTHALMIC GENETICS

New variants and in silico analyses in GRK1 associated Oguchi disease

James A. PoulterMolly S. C. GravettRachel L. TaylorKaoru FujinamiJulie De ZaeytijdJames BellinghamAtta Ur RehmanTakaaki HayashiMineo KondoAbdur Rehman et al.

A1 Journal Article in HUMAN MUTATION

Novel mutations in RNU7-1 weaken secondary RNA structure, induce MCP-1 and CXCL10 in CSF and result in Aicardi-Goutières syndrome with severe end-organ involvement

Leslie NaesensJosephine NemegeerFilip RoelensLore VallaeysMarije MeuwissenKatrien JanssensPATRICK VERLOOBenson OgunjimiDimitri HemelsoetProgram for Undiagnosed Rare Diseases (UD-PrOZA) et al.

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

Structural variants disrupt a critical regulatory region downstream of FOXG1

Eva D'haeneLies VantommeBjörn MentenBert CallewaertElfride De BaereSarah Vergult

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

The phenotypic spectrum of patients with PHARC syndrome due to variants in ABHD12 : an ophthalmic perspective

Xuan-Thanh-An NguyenHind AlmushattatIne StrubbeMichalis GeorgiouCatherina H. Z. LiMary J. van SchooneveldInge JoniauElfride De BaereRalph J. FlorijnArthur A. Bergen et al.

A1 Journal Article in GENES

2020

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

Giulia AscariElfride De BaereFrauke CoppietersKris Vleminckx

Deficient histone H3 propionylation by BRPF1-KAT6 complexes in neurodevelopmental disorders and cancer

Kezhi YanJustine RousseauKeren MacholLaura A. CrossKatherine E. AgreCynthia Forster GibsonAnne GoverdeKendra L. EnglemanHannah VerdinElfride De Baere et al.

A1 Journal Article in SCIENCE ADVANCES

Disclosing incidental and secondary findings in clinical genomics : professional practice, patient experience and ethical reflection

Marlies SaelaertIgnaas DevischHeidi MertesElfride De Baere

Ethical values supporting the disclosure of incidental and secondary findings in clinical genomic testing : a qualitative study

Marlies SaelaertHeidi MertesTania MoerenhoutElfride De BaereIgnaas Devisch

A1 Journal Article in BMC MEDICAL ETHICS

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.

Expect the unexpected : clinical case

Delfien BogaertMarieke De BruyneFrederic Rieux-LaucateElfride De BaereFilomeen Haerynck

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

GATA2 deficiency and haematopoietic stem cell transplantation : challenges for the clinical practitioner

Delfien BogaertGenevieve LaureysLeslie NaesensDominiek MazureMarieke De BruyneAmy P. HsuMaria Bordon Cueto De BraemErik WoutersSimon TavernierBart Lambrecht et al.

A1 Journal Article in BRITISH JOURNAL OF HAEMATOLOGY

Loss of function of RIMS2 causes a syndromic congenital cone-rod synaptic disease with neurodevelopmental and pancreatic involvement

Sabrina MechaussierBasamat Almoallem MohammedChristina ZeitzKristof Van SchilLaila JeddawiJo Van DorpeAlfredo Dueñas ReyChristel CondroyerOlivier PelleMichel Polak et al.

A1 Journal Article in AMERICAN JOURNAL OF HUMAN 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 Journal Article in PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Microcoria due to first duplication of 13q32.1 including the GPR180 gene and maternal mosaicism

Elise PozzaHannah VerdinHilde DeconinckAnnelies DheedeneBjörn MentenElfride De BaereIrina Balikova

A1 Journal Article in EUROPEAN JOURNAL OF MEDICAL GENETICS

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 Journal Article in GENETICS IN MEDICINE

The majority of autosomal recessive nanophthalmos and posterior microphthalmia can be attributed to biallelic sequence and structural variants in MFRP and PRSS56

Basamat Almoallem MohammedGavin ArnoJulie De ZaeytijdHannah VerdinIrina BalikovaIngele CasteelsThomy de RavelSarah HullMartina SuzaniAnne Destrée et al.

A1 Journal Article in SCIENTIFIC REPORTS

Three cases of molecularly confirmed Knobloch syndrome

Irina BalikovaNuri Serdal SanakDepasse FannyGuillaume SmitsJulie SobletElfride De BaereMonique Cordonnier

A1 Journal Article in OPHTHALMIC GENETICS

Under-reported aspects of diagnosis and treatment addressed in the Dutch-Flemish guideline for comprehensive diagnostics in disorders/differences of sex development

Yolande van BeverHennie T BrüggenwirthKatja P WolffenbuttelArianne B DessensIrene A L GroenenbergMaarten F C M KnapenElfride De BaereMartine CoolsConny M A van Ravenswaaij-ArtsBirgit Sikkema-Raddatz et al.

A1 Journal Article in JOURNAL OF MEDICAL GENETICS

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

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

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

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

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

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

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

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

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

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

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

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

2019

'Every sweet has its sour' : rare skin lesions in a boy with combined immunodeficiency

Delfien BogaertMargo HagendorensMarieke De BruyneHilde LapeereAnnick CoventsElfride De BaereFrans De BaetsFilomeen Haerynck

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

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

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

Congenital myeloperoxidase deficiency caused by a homozygous MPO splice site mutation in a patient with recurrent candida otomastoiditis

Frederic AckeDelfien BogaertHelen Van HoeckeKatrien BonteCarolien BonroyPetra SchelstraeteMarieke De BruyneElfride De BaereIngeborg DhoogeFilomeen Haerynck

Criteria for reporting incidental findings in clinical exome sequencing : a focus group study on professional practices and perspectives in Belgian genetic centres

Marlies SaelaertHeidi MertesTania MoerenhoutElfride De BaereIgnaas Devisch

A1 Journal Article in BMC MEDICAL GENOMICS

Criteria for reporting incidental findings in clinical whole exome sequencing : professional practice and perspective in Belgian genetic centres

Marlies SaelaertHeidi MertesElfride De BaereIgnaas Devisch

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 Journal Article in GENETICS IN 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

Expanding the CPAMD8-associated eye disease spectrum to primary congenital glaucoma : lessons learned from a large consanguineous family with pseudodominance

Hannah VerdinIrina BalikovaJulie Van De VeldePhilippe KestelynBart LeroyElfride De Baere

Expanding the differential diagnosis of primary congenital glaucoma : molecular lessons learned from a large consanguineous family

Hannah VerdinIrina BalikovaJulie Van De VeldePhilippe KestelynBart LeroyElfride 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.

Genome-wide meta-analysis reveals shared new loci in systemic seropositive rheumatic diseases

Marialbert Acosta-HerreraMartin KerickDavid González-SernaCisca WijmengaAndre FrankePeter K GregersenLeonid PadyukovJane WorthingtonTimothy James VyseMarta Eugenia Alarcón-Riquelme et al.

A1 Journal Article in ANNALS OF THE RHEUMATIC DISEASES

Homozygous stop mutation in AHR causes autosomal recessive foveal hypoplasia and infantile nystagmus

Anja K. MayerMuhammad MahajnahMervyn G. ThomasYuval CohenAdib HabibMartin SchulzeGail D. E. MaconachieBasamat Almoallem MohammedElfride De BaereBirgit Lorenz et al.

A1 Journal Article in BRAIN

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

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

Rare skin lesions in a boy with activated phosphoinositide 3-kinase delta syndrome

Delfien BogaertMarieke De BruyneMargo HagendorensHilde LapeereAnnick CoventsElfride De BaereFrans De BaetsFilomeen Haerynck

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

Sarah NaessensElfride De BaereFrauke Coppieters

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.

Update on the genetics of differences of sex development (DSD)

Dorien BaetensHannah VerdinElfride De BaereMartine Cools

A1 Journal Article in BEST PRACTICE & RESEARCH CLINICAL ENDOCRINOLOGY & METABOLISM

Where are the missing gene defects in inherited retinal disorders? : intronic and synonymous variants contribute at least to 4% of CACNA1F-mediated inherited retinal disorders

Christina ZeitzChristelle MichielsMarion NeuilléChristoph FriedburgChristel CondroyerFiona BoyardAline AntonioNassima BouzidiDiana MilicevicRobin Veaux et al.

A1 Journal Article in HUMAN MUTATION

2018

A CARD9 founder mutation disrupts NF-κB signaling by inhibiting BCL10 and MALT1 recruitment and signalosome formation

Marieke De BruyneLevi HosteDelfien BogaertLien Van den BosscheSimon TavernierEef ParthoensMélanie MigaudDeborah KonopnickiJean Cyr YombiBart Lambrecht et al.

A1 Journal Article in FRONTIERS IN IMMUNOLOGY

A novel IKAROS haploinsufficiency kindred with unexpectedly late and variable B-cell maturation defects

Delfien BogaertHye Sun KuehnCarolien BonroyKatherine R CalvoJo DehoorneArnaud VanlanderMarieke De BruyneUrszula CytlakVenetia BigleyFrans De Baets et al.

A1 Journal Article in JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

A variety of Alu-mediated copy number variations can underlie IL-12Rβ1 deficiency

Jérémie RosainCarmen Oleaga-QuintasCaroline DeswarteHannah VerdinStéphane MarotGaryfallia SyridouMahboubeh MansouriS Alireza MahdavianiEdna Venegas-MontoyaMaria Tsolia et al.

A1 Journal Article in JOURNAL OF CLINICAL IMMUNOLOGY

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

Biallelic and monoallelic ESR2 variants associated with 46,XY disorders of sex development

Dorien BaetensTülay GüranBerenice B MendoncaNathalia L GomesLode De CauwerFrank PeelmanHannah VerdinMarnik VuylstekeMalaïka Van der LindenHans Stoop et al.

A1 Journal Article in GENETICS IN MEDICINE

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.

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

FOG2/ZFPM2 is a noval disease gene for primary ovarian insufficiency

Dorien BaetensNiels De VrieseNick ReynaertAnne BachelotPhilippe TouraineJerome DulonPetra De SutterFranchis De ZegherMartine CoolsElfride De Baere

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

Incidental or secondary findings : a dual bottom-up approach to the terminological debate

Marlies SaelaertHeidi MertesElfride De BaereIgnaas Devisch

Incidental or secondary findings : a patient perspective on additional genetic results

Marlies SaelaertHeidi MertesElfride De BaereIgnaas Devisch

Incidental or secondary findings : an integrative and patient-inclusive approach to the current debate

Marlies SaelaertHeidi MertesElfride De BaereIgnaas Devisch

A1 Journal Article in EUROPEAN JOURNAL OF HUMAN GENETICS

Incidental or secondary findings in genetics : stairways to a life of certainty?

Marlies SaelaertHeidi MertesElfride De BaereIgnaas Devisch

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

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

Miriam BauwensElfride De BaereBart Leroy

Mutations in the gene PDE6C encoding the catalytic subunit of the cone photoreceptor phosphodiesterase in patients with achromatopsia

Nicole WeisschuhKatarina StinglIsabelle AudoSaskia BiskupBeatrice BocquetKari BranhamMarie S. BurstedtElfride De BaereMeindert J. De VriesIrina Golovleva et al.

A1 Journal Article in HUMAN MUTATION

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

A CARD9 founder mutation p.Arg70Trp in Belgian and French patients of Turkish origin with a spectrum of chronic mucocutaneous and invasive fungal infections

Marieke De BruyneDelfien BogaertLevi HosteMélanie MigaudJean-Christophe GoffardAnne PuelElfride De BaereFilomeen HaerynckMelissa Dullaers

A CARD9 Turkisch founder mutation disrupts NF-κB signaling by inhibiting Bcl10 recruitment

Marieke De BruyneLevi HosteDelfien BogaertMélanie MigaudDeborah KonopnickiBart LambrechtRudi BeyaertElfride De BaereAnne PuelJean-Christophe Goffard et al.

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

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 Journal Article in GENETICS IN MEDICINE

CARD9 p.R70W, a Turkish founder mutation associated with mucosal and invasive fungal infections, disrupts downstream NF-κB signaling by inhibiting Bcl10 recruitment

Marieke De BruyneDelfien BogaertLevi HosteMélanie MigaudJean-Christophe GoffardDeborah KonopnickiBart LambrechtRudi BeyaertElfride De BaereAnne Puel et al.

CARD9 p.R70W, a Turkish founder mutation associated with mucosal and invasive fungal infections, disrupts downstream NF-κB signaling by inhibiting Bcl10 recruitment

Marieke De BruyneLevi HosteDelfien BogaertMélanie MigaudJean-Christophe GoffardDeborah KonopnickiBart LambrechtRudi BeyaertElfride De BaereAnne Puel et al.

CARD9 p.R70W, a Turkish founder mutation associated with mucosal and invasive fungal infections, disrupts downstream NF-κB signaling by inhibiting Bcl10 recruitment

Marieke De BruyneDelfien BogaertLevi HosteMélanie MigaudJean-Christophe GoffardDeborah KonopnickiBart LambrechtRudi BeyaertElfride De BaereAnne Puel et al.

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

Diagnostiek bij disorders/differences of sex development (DSD)

Yolande van BeverHennie BruggenwirthArianne DessensSabine HannemaKatja WolffenbuttelElfride De BaereMartine CoolsMaaike HaadsmaConny van Ravenswaaij-ArtsBirgit Sikkema-Radatz et al.

Disruption of a remote putative novel enhancer in the cis-regulatory domain of FOXL2 in a multigenerational Polynesian family with BPES

Hannah VerdinAndrew ShellingDavid MarkieAndrea VincentElfride De Baere

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

FOG2 (ZFPM2) is a candidate disease gene for primary ovarian insufficiency

Dorien BaetensAnne BachelotNiels De VrieseFranchis De ZegherNele ReynaertJerome DulonBernadette DhontPetra De SutterPhilippe TouraineElfride De Baere et al.

Functional characterization of a novel non-coding mutation 'Ghent +49A>G' in the iron-responsive element of L-ferritin causing hereditary hyperferritinaemia-cataract syndrome

Stijn Van de SompeleLucie PécheuxJorge CousoAudrey MeunierMayka SanchezElfride De Baere

A1 Journal Article in SCIENTIFIC REPORTS

Genetic defects of female sexual differentiation

Martine CoolsHedi L Claahsen- Van der GrintenElfride De BaereNina CallensArianne Dessens

Bookchapter in Hormones, brain and behavior

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

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

Incidental findings : inherent part of patients’ identity or unwillingly imposed digitalization?

Marlies SaelaertHeidi MertesElfride De BaereIgnaas Devisch

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 diagnosis of Common Variable Immunodeficiency and related antibody disorders : an integrated immunological and genetic approach

Delfien BogaertElfride De BaereFilomeen HaerynckMelissa Dullaers

Molecular genetics of common variable immunodeficiency

Delfien BogaertMelissa DullaersElfride De BaereFilomeen Haerynck

Bookchapter in eLS

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

Non-coding variation in disorders of sex development

Dorien BaetensBerenice Bilharinho de MendonçaHannah VerdinMartine CoolsElfride De Baere

A1 Journal Article in CLINICAL GENETICS

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

Caroline Van CauwenberghElfride De BaereBart LeroyFrauke Coppieters

Novel non-coding homozygous mutation 'Ghent +49A>G' in the iron-responsive element of L-ferritin causes hereditary hyperferritinaemia-cataract syndrome

Stijn Van de SompeleAudrey MeunierLucie PécheuxElfride De Baere

Novel non-coding homozygous mutation 'Ghent +49A>G' in the iron-responsive element of L-ferritin causes hereditary hyperferritinaemia-cataract syndrome

Stijn Van de SompeleAudrey MeunierLucie PécheuxElfride De Baere

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

NXT-EYE : integrative strategy to elucidate hidden genetic variation in inherited retinal diseases

Kristof Van SchilElfride De BaereBart Leroy

SeX(X)Y genes : unraveling the molecular pathogenesis of disorders of sex development

Dorien BaetensMartine CoolsElfride De Baere

To B or not to B matured : a novel IKAROS haploinsufficiency kindred with incomplete penetrance both at clinical and cellular level

Delfien BogaertHye Sun KuehnCarolien BonroyKatherine CalvoJo DehoorneArnaud VanlanderMarieke De BruyneVenetia BigleyPetra SchelstraeteFrans De Baets et al.

To B or not to B matured : a novel IKAROS haploinsufficiency kindred with unexpectedly late and variable B cell maturation defects

Delfien BogaertHye Sun KuehnCarolien BonroyKatherine CalvoJo DehoorneArnaud VanlanderPetra SchelstraeteMarieke De BruyneUrszula CytlakVenetia Bigley et al.

Unraveling the molecular basis genetically heterogeneous developmental eye disorders

Basamat Almoallem MohammedElfride De BaerePhilippe KestelynBart Leroy

2016

A restricted repertoire of de novo mutations in ITPR1 cause Gillespie syndrome with evidence for dominant-negative effect

Meriel McEntagartKathleen A WilliamsonJacqueline K RaingerAnn WheelerAnne SeawrightElfride De BaereHannah VerdinL Therese BergendahlAlan QuigleyJoe Rainger et al.

A1 Journal Article in AMERICAN JOURNAL OF HUMAN GENETICS

Autosomal recessive retinitis pigmentosa with homozygous rhodopsin mutation E150K and non-coding cis-regulatory variants in CRX-binding regions of SAMD7

Kristof Van SchilMarcus KarlstetterAlexander AslanidisKatharina DannhausenMaleeha AzamRaheel QamarBart LeroyFanny DepasseThomas LangmannElfride De Baere

A1 Journal Article in SCIENTIFIC REPORTS

Biallelic mutations in GNB3 cause a unique form of autosomal-recessive congenital stationary night blindness

Ajoy VincentIsabelle AudoErika TavaresJason T MaynesAnupreet TumberThomas WrightShuning LiChristelle MichielsChristel CondroyerHeather MacDonald et al.

A1 Journal Article in AMERICAN JOURNAL OF HUMAN GENETICS

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

CVID, isolated IgG deficiency and isolated IgG subclass deficiency : clinical features and B cell maturation of the Ghent cohort

Delfien BogaertVeronique De BackerTessa KerreMaria Bordon Cueto De BraemBart LambrechtKarim VermaelenFrans De BaetsElfride De BaereMelissa DullaersFilomeen Haerynck

De genetische revolutie in beeld gebracht : nieuwe diagnostische mogelijkheden voor aandoeningen van de geslachtsontwikkeling

Dorien BaetensMartine CoolsElfride De Baere

A4 Journal Article in GUNAÏKEIA (NEDERLANDSE EDITIE)

De novo intrachromosomal gene conversion from OPN1MW to OPN1LW in the male germline results in Blue Cone Monochromacy

Elena Buena-AtienzaKlaus RütherBritta BaumannRichard BergholzDavid BirchElfride De BaereHelene DollfusMarie T GreallyPeter GustavssonChristian P Hamel et al.

A1 Journal Article in SCIENTIFIC REPORTS

Disruption of a remote putative novel enhancer in the cis-regulatory domain of FOXL2 in a multigenerational Polynesian family with BPES

Hannah VerdinAndrew ShellingAndrea VincentElfride De Baere

Disruption of a remote putative novel enhancer in the cis-regulatory domain of FOXL2 in a multigenerational Polynesian family with BPES

Hannah VerdinAndrew ShellingAndrea VincentElfride De Baere

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

Familial Mediterranean fever mutations lift the obligatory requirement for microtubules in Pyrin inflammasome activation

Hanne Van GorpPedro Henrique Viana SaavedraNathalia Moraes de VasconcelosNina Van OpdenboschLieselotte Vande WalleMagdalena MatusiakGiusi PrencipeAntonella InsalacoFilip Van HauwermeirenDieter Demon et al.

A1 Journal Article in PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

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

Genes associated with common variable immunodeficiency: one diagnosis to rule them all?

Delfien BogaertMelissa DullaersBart LambrechtKarim VermaelenElfride De BaereFilomeen Haerynck

A1 Journal Article in JOURNAL OF MEDICAL GENETICS

Hidden genetic variation in retinal dystrophies : exploring the contribution of copy number variations

Kristof Van SchilBart 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.

Incidental findings : an opportunity for autonomy or a case of hidden heteronomy?

Marlies SaelaertHeidi MertesElfride De BaereIgnaas Devisch

Inflammasomes in inflammatory disease

Hanne Van GorpPedro Henrique Viana SaavedraNathalia Moraes de VasconcelosNina Van OpdenboschLieselotte Vande WalleMagdalena MatusiakFilip Van HauwermeirenG. PrencipeDelfien BogaertMelissa Dullaers 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.

Molecular study of the MFRP gene in patients with posterior microphthalmia (MCOP) supports its role in autosomal recessive MCOP pathogenesis

Basamat Almoallem MohammedGavin ArnoJulie De ZaeytijdSarah HullMartina SuzaniThomy JL de RavelAndrew WebsterBart LeroyTony MooreElfride De Baere

Molecular study of the MFRP gene in patients with posterior microphthalmia (MCOP) supports its role in autosomal recessive MCOP pathogenesis

Basamat Almoallem MohammedGavin ArnoJulie De ZaeytijdSarah HullMartina SuzaniThomy JL de RavelAndrew WebsterBart LeroyTony MooreElfride De Baere

Molecular study of the MFRP gene in patients with posterior microphthalmia (MCOP) supports its role in autosomal recessive MCOP pathogenesis

Basamat Almoallem MohammedGavin ArnoJulie De ZaeytijdSarah HullMartina SuzaniThomy JL de RavelAndrew WebsterBart LeroyTony MooreElfride De Baere

Molecular study of the MFRP gene in patients with posterior microphthalmia (MCOP) supports its role in autosomal recessive MCOP pathogenesis

Basamat Almoallem MohammedGavin ArnoJulie De ZaeytijdSarah HullMartina SuzaniThomy JL de RavelAndrew WebsterBart LeroyTony MooreElfride De Baere

Mutations in CTNNA1 cause butterfly-shaped pigment dystrophy and perturbed retinal pigment epithelium integrity

Nicole TM SaksensMark P KrebsFrederieke E Schoenmaker-KollerWanda HicksMinzhong YuLanying ShiLucy RoweGayle B CollinJeremy R CharetteStef J Letteboer et al.

A1 Journal Article in NATURE GENETICS

Pathogenetics of alveolar capillary dysplasia with misalignment of pulmonary veins

Przemyslaw SzafranskiTomasz GambinAvinash V DharmadhikariKadir Caner AkdemirShalini N JhangianiJennifer SchuetteNihal GodiwalaSvetlana A YatsenkoJessica SebastianSuneeta Madan-Khetarpal et al.

A1 Journal Article in HUMAN GENETICS

Persistent rotavirus diarrhea post-transplant in a novel JAK3-SCID patient after vaccination

Delfien BogaertKristof Van SchilTom TaghonMaria Bordon Cueto De BraemCarolien BonroyMelissa DullaersElfride De BaereFilomeen Haerynck

A1 Journal Article in PEDIATRIC ALLERGY AND IMMUNOLOGY

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 Journal Article in OPHTHALMOLOGY

Profiling of conserved non-coding elements upstream of SHOX and functional characterisation of the SHOX cis-regulatory landscape

Hannah VerdinAna Fernández-MiñánSara Benito-SanzSandra JanssensBert CallewaertKATHLEEN DE WAELEJean De SchepperInge FrançoisBjörn MentenKaren Heath 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

Recurrent cutaneous abscesses as the presenting manifestation of STAT1 gain-of-function mutation

Levi HosteMarieke De BruyneDelfien BogaertElfride De BaereCarolien BonroyPetra SchelstraeteMelissa DullaersTom VercruysseFilomeen Haerynck

The immunophenotypical landscape of patients with primary antibody deficiencies and their asymptomatic first-degree relatives : arguments for a multifactorial aetiology

Delfien BogaertPauline DepuydtKatleen De PreterCarolien BonroyJan PhilippéMaria Bordon Cueto De BraemTessa KerreBart LambrechtAndrea CeruttiKarim Vermaelen et al.

Visual prognosis in USH2A-associated retinitis pigmentosa is worse for patients with Usher syndrome type IIa than for those with nonsyndromic retinitis pigmentosa

Laurence HM PierracheBas P HartelErwin van WijkMagda A Meester-SmoorFrans PM CremersElfride De BaereJulie De ZaeytijdMary J van SchooneveldCor WRJ CremersGislin Dagnelie et al.

A1 Journal Article in OPHTHALMOLOGY

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

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

2015

A nonsense mutation in FAM161A is a recurrent founder allele in Dutch and Belgian individuals with autosomal recessive retinitis pigmentosa

Kristof Van SchilB Jeroen KleveringBart LeroyJan Willem R PottDikla Bandah-RozenfeldMarijke N Zonneveld-VrielingDror SharonAnneke I den HollanderFrans PM CremersElfride De Baere et al.

A1 Journal Article in INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE

A novel Janus kinase 3 (JAK3) mutation in a patient with severe combined immunodeficiency

Delfien BogaertKristof Van SchilTom TaghonMaria Bordon Cueto De BraemMelissa DullaersElfride De BaereFilomeen Haerynck

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

Biallelic mutations in the autophagy regulator DRAM2 cause retinal dystrophy with early macular involvement

Mohammed E El-AsragPanagiotis I SergouniotisMartin McKibbinVincent PlagnolEamonn SheridanNaushin WaseemZakia AbdelhamedDeclan McKeefryKristof Van SchilJames A Poulter et al.

A1 Journal Article in AMERICAN JOURNAL OF HUMAN GENETICS

Blepharophimosis, ptosis, and epicanthus inversus

Hannah VerdinElfride De Baere

Bookchapter in GeneReviews®

Calcium and bone homeostasis in heterozygous carrier's of CYP24A1 mutations: a cross-sectional study

Martine CoolsStefan GoemaereDorien BaetensAnn RaesAn DesloovereJean KaufmanJean De SchepperIvo JansDirk VanderschuerenJaak Billen et al.

A1 Journal Article in BONE

Colour vision in Stargardt disease

Tine VandenbrouckeRonald BuylJulie De ZaeytijdMiriam BauwensAndré UvijlsElfride De BaereBart Leroy

A1 Journal Article in OPHTHALMIC RESEARCH

Disease expression in autosomal recessive retinal dystrophy associated with mutations in the DRAM2 gene

Panagiotis I SergouniotisMartin McKibbinAnthony G RobsonHanno J BolzElfride De BaerePhilipp L MüllerRaoul HellerMohammed E El-AsragKristof Van SchilVincent Plagnol et al.

A1 Journal Article in INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE

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 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 KarlstetterAlexander AslanidisBart LeroyFrauke CoppietersFanny DepasseThomas LangmannElfride De Baere

Mother and daughter became father and son : a case report

TATJANA SAJEVETSCharlotte VerrokenGUNTER HEYLENSElfride De BaereGuy T'Sjoen

A1 Journal Article in ASIAN JOURNAL OF ANDROLOGY

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

Basamat Almoallem MohammedMiriam BauwensSOPHIE WALRAEDTPatricia DelbekeJulie De ZaeytijdBart LeroyElfride De Baere

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

Basamat Almoallem MohammedMiriam BauwensSOPHIE WALRAEDTPatricia DelbekeJulie De ZaeytijdBart LeroyElfride De Baere

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

Basamat Almoallem MohammedMiriam BauwensSOPHIE WALRAEDTPatricia DelbekeJulie De ZaeytijdPhilippe KestelynFrançoise MeireSandra JanssensCaroline Van CauwenberghHannah Verdin et al.

A1 Journal Article in INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE

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 Journal Article in MOLECULAR GENETICS & GENOMIC MEDICINE

Profiling of conserved non-coding elements upstream of SHOX and functional characterisation of the SHOX cis-regulatory landscape

Hannah VerdinAna Fernández-MiñánSara Benito-SanzSandra JanssensBert CallewaertKATHLEEN DE WAELEJean De SchepperInge FrançoisBjörn MentenKaren E Heath et al.

A1 Journal Article in SCIENTIFIC REPORTS

Profiling of upstream enhancers and chromatin conformation of the SHOX CIS-regulatory landscape

Hannah VerdinAna Fernández-MiñánSara Benito-SanzSandra JanssensBert CallewaertKATHLEEN DE WAELEJean De SchepperInge FrançoisBjörn MentenKaren Heath et al.

Profiling of upstream enhancers and chromatin conformation of the SHOX CIS-regulatory landscape.

Hannah VerdinAna Fernández-MiñánSara Benito-SanzSandra JanssensBert CallewaertKATHLEEN DE WAELEJean De SchepperInge FrançoisBjörn MentenJosé Luis Gómez-Skarmeta 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

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 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

Submicroscopic deletions at 13q32.1 cause congenital microcoria

Lucas Fares-TaieSylvie GerberAkihiko TawaraArturo Ramirez-MirandaJean-Yves DouetHannah VerdinAntoine GuillouxJuan C ZentenoHiroyuki KondoHugo Moisset et al.

A1 Journal Article in AMERICAN JOURNAL OF HUMAN GENETICS

2014

A missense mutation in the splicing factor gene DHX38 is associated with early-onset retinitis pigmentosa with macular coloboma

Muhammad AjmalMuhammad Imran KhanKornelia NevelingYar Muhammad KhanMaleeha AzamNadia Khalida WaheedChristian P HamelTamar Ben-YosefElfride De BaereRobert K Koenekoop et al.

A1 Journal Article in JOURNAL OF MEDICAL GENETICS

Clinical presentation of hyper-IgE syndrome in a family with impaired IL-22 production and STAT3 phosphorylation

Filomeen HaerynckDelfien BogaertElfride De BaereBart LambrechtKarim VermaelenVeronique DebackerKristof Van SchilFrans De BaetsPetra SchelstraeteMaria Bordon Cueto De Braem et al.

Co-occurrence of congenital hydronephrosis and FOXL2-associated blepharophimosis, ptosis, epicanthus inversus syndrome (BPES)

Reena GulatiHannah VerdinDhanapathi HalanaikB Vishnu BhatElfride De Baere

A1 Journal Article in EUROPEAN JOURNAL OF MEDICAL GENETICS

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

De novo MECP2 duplications in two females with intellectual disability and unfavorable complete skewed X-inactivation

Nathalie FieremansMarijke BautersStefanie BeletJelle VerbeeckAnna C JansenSara SenecaFilip RoelensElfride De BaerePeter MarynenGuy Froyen

A1 Journal Article in HUMAN GENETICS

Deciphering the cis-regulatory landscape of SOX9 implicated in craniofacial development and isolated Pierre Robin sequence

Elfride De Baere

Editorial material

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 a novel disease gene EML4 in autosomal recessive retinitis pigmentosa

Kristof Van SchilBart LeroyElfride De Baere

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

Extensive clinical, hormonal and genetic screening in a large consecutive series of 46, XY neonates and infants with atypical sexual development

Dorien BaetensWilhelm MladenovBARBARA DELLE CHIAIEBjörn MentenAn DesloovereVioleta IotovaBert CallewaertErik Van LaeckePiet HoebekeElfride De Baere et al.

A1 Journal Article in ORPHANET JOURNAL OF RARE DISEASES

FLH type 5 caused by a novel mutation in STXBP2 gene : an unusual cause of failure to thrive and diarrhea in infancy

Filomeen HaerynckRuth De BruyneMelissa DullaersROSELYNE UWERABert CallewaertElfride De BaereMyriam Van WinckelStephanie Van BiervlietSebastien van de VeldeVictoria Bordon

Heterozygous coding ZNF469 variants enriched in New Zealand patients with isolated keratoconus

Elfride De Baere

Editorial material

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

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

Novel and recurrent PITX3 mutations in Belgian families with autosomal dominant congenital cataract and anterior segment dysgenesis have similar phenotypic and functional characteristics

Hannah VerdinElena A SorokinaFrançoise MeireIngele CasteelsThomy de RavelElena V SeminaElfride De Baere

A1 Journal Article in ORPHANET JOURNAL OF RARE DISEASES

Novel insights into the molecular pathogenesis of three monogenic developmental conditions

Hannah VerdinElfride De Baere

Structural and numerical changes of chromosome X in patients with esophageal atresia

Erwin BrosensElisabeth M de JongTahsin Stefan BarakatBert H EussenBarbara D'haeneElfride De BaereHannah VerdinPino J PoddigheRobert-Jan GaljaardJoost Gribnau et al.

A1 Journal Article in EUROPEAN JOURNAL OF HUMAN GENETICS

Study of the regulatory landscape of SHOX in 503 LWD and ISS cases uncovers a key role of the upstream cis-regulatory element CNE-3

Hannah VerdinAna Fernández-MiñánKim De LeeneerLiza BormsSandra JanssensBert CallewaertFransiska MalfaitAriana KariminejadKATHLEEN DE WAELEInge François et al.

Use of an integrative classification system and next-generation sequencing strategies for gene identification in common variable immunodeficiency disorder (CVID)

Delfien BogaertMelissa DullaersFilomeen HaerynckElfride De BaereKarim Vermaelen

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

Contribution of growth differentiation factor 6-dependent cell survival to early-onset retinal dystrophies

Mika Asai-CoakwellLindsey MarchMichele DuValIrma LopezCurtis R FrenchJakub FamulskiElfride De BaerePeter J FrancisPeriasamy SundaresanYves Sauvé et al.

A1 Journal Article in HUMAN MOLECULAR GENETICS

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

Forkhead transcription factors in genetic disease

Dorien BaetensHannah VerdinMartine CoolsElfride De Baere

Bookchapter in eLS

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 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

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

Maternal uniparental isodisomy of chromosome 6 reveals a TULP1 mutation as a novel cause of cone dysfunction

Susanne RoosingL Ingeborgh van den BonCarel B HoyngAlberta AHJ ThiadeusElfride De BaereRob WJ CollinRobert K KoenekoopBart LeroyNorka van Moll-RamirezHanka Venselaar et al.

A1 Journal Article in OPHTHALMOLOGY

Microhomology-mediated mechanisms underlie non-recurrent disease-causing microdeletions of the FOXL2 gene or its regulatory domain

Hannah VerdinBarbara D'haeneDIANE BEYSENYana NovikovaBjörn MentenTom SantePablo LapunzinaJulian NevadoClaudio MB CarvalhoJames R Lupski et al.

A1 Journal Article in PLOS GENETICS

Mitotic microhomology-mediated replication-based mechanisms underlie non-recurrent pathogenic microdeletions of the FOXL2 gene or its regulatory domain

Hannah VerdinBarbara D'haeneDIANE BEYSENYana NovikovaBjörn MentenTom SantePablo LapunzinaJulian NevadoClaudia CarvalhoJames Lupski et al.

Mutations in IMPG1 cause vitelliform macular dystrophies

Gaël ManesIsabelle MeunierAlmudena Avila-FernándezSandro BanfiGuylène Le MeurXavier ZanlonghiMarta CortonFrancesca SimonelliPhilippe BrabetGilles Labesse et al.

A1 Journal Article in AMERICAN JOURNAL OF HUMAN GENETICS

Peculiar fundus abnormalities and pathognomonic electrophysiological findings in a 14-month-old boy with NR2E3 mutations

Catherine CassimanWerner SpileersElfride De BaereThomy de RavelIngele Casteels

A1 Journal Article in OPHTHALMIC GENETICS

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

Screening of a large cohort of Leber congenital amaurosis and retinitis pigmentosa patients identifies novel LCA5 mutations and new genotype-phenotype correlations

Donna S MackayArundhati Dev BormanRuifang SuiL Indeborgh van den BornEliot L BersonLouise A OcakaAlice E DavidsonJohn R HeckenlivelyKari BranhamHuanan Ren et al.

A1 Journal Article in HUMAN MUTATION

The ADAMTS18 gene is responsible for autosomal recessive early onset severe retinal dystrophy

Ivana PelusoIvan ConteFrancesco TestaGopuraja DharmalingamMariateresa PizzoRob WJ CollinNicola MeolaSara BarbatoMargherita MutarelliCarmela Ziviello et al.

A1 Journal Article in ORPHANET JOURNAL OF RARE DISEASES

Whole-exome sequencing identifies LRIT3 mutations as a cause of autosomal-recessive complete congenital stationary night blindness

Christina ZeitzSamuel G JacobsonChristian P HamelKinga BujakowskaMarion NeuilléElise OrhanXavier ZanlonghiMarie-Elise LancelotChristelle MichielsSharon B Schwartz et al.

A1 Journal Article in AMERICAN JOURNAL OF HUMAN GENETICS

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

BBS1 mutations in a wide spectrum of phenotypes ranging from nonsyndromic retinitis pigmentosa to Bardet-Biedl syndrome

Alejandro Estrada-CuzcanoRobert K KoenekoopAudrey SenechalElfride De BaereThomy de RavelSandro BanfiSsusanne KohlCarmen AyusoDror SharonCarel B Hoyng et al.

A1 Journal Article in ARCHIVES OF OPHTHALMOLOGY

Blepharophimosis-ptosis-epicanthus inversus syndrome plus: deletion 3q22.3q23 in a patient with characteristic facial features and with genital anomalies, spastic diplegia, and speech delay

Stacy ZahanovaBrandon MeaneyBeata ŁabieniecHannah VerdinElfride De BaereMalgorzata JM Nowaczyk

A1 Journal Article in CLINICAL DYSMORPHOLOGY

Clinical course, genetic etiology, and visual outcome in cone and cone-rod dystrophy

Alberta AHJ ThiadensT My Lan PhanRenate C Zekveld-VroonBart LeroyL Ingeborgh van den BornCrel B HoyngCaroline CW KlaverSusanne RoosingJan-Willem R PottMary J van Schooneveld et al.

A1 Journal Article in OPHTHALMOLOGY

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

Exploring the role of a novel disease gene RERG in early-onset retinal dystrophy and related conditions

Kristof Van SchilBart LeroyElfride De Baere

FOXL2 impairment in human disease

Hannah VerdinElfride De Baere

A1 Journal Article in HORMONE RESEARCH IN PAEDIATRICS

Gender identity disorder in twins: a review of the case report literature

GUNTER HEYLENSGRETA DE CUYPEREKenneth J ZuckerCleo SchelfautEls ElautHEIDI VANDEN BOSSCHEElfride De BaereGuy T'Sjoen

A1 Journal Article in JOURNAL OF SEXUAL MEDICINE

HDAC8 mutations in Cornelia de Lange syndrome affect the cohesin acetylation cycle

Matthew A DeardorffMasashige BandoRyuichiro NakatoErwan WatrinTakhiko ItohMasashi MinaminoKatsuya SaitohMakiko KomataYuki KatouDinah Clark et al.

A1 Journal Article in NATURE

Identification de gènes candidats pour des dystrophies rétiniennes par des délétions homozygotes

Kristof Van SchilFrançoise MeireThomy De RavelBart LeroyElfride 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

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

Missense mutation outside the forkhead domain of FOXL2 causes a severe form of BPES type II

Alireza HaghighiHannah VerdinHamidreza Haghighi-KakhkiNiloofar PiriNasrollah Saleh GohariElfride De Baere

A1 Journal Article in MOLECULAR VISION

Mutations in C8orf37, encoding a ciliary protein, are associated with autosomal-recessive retinal dystrophies with early macular involvement

Alejandro Estrada-CuzcanoKornelis NevelingSusanne KohlEyal BaninYgal RotenstreichDror SharonTzipora C Falik-ZaccaiStephanie HippRonald RoepmanBernd Wissinger et al.

A1 Journal Article in AMERICAN JOURNAL OF HUMAN GENETICS

Mutations in PIGO, a member of the GPI-anchor-synthesis pathway, cause hyperphosphatasia with mental retardation

Peter M KrawitzYoshiko MurakamiJochen HechtUlrike KrügerSusan E HolderGeert R MortierBARBARA DELLE CHIAIEElfride De BaereMiles D ThompsonTony Roscioli et al.

A1 Journal Article in AMERICAN JOURNAL OF HUMAN GENETICS

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

Whole-exome sequencing identifies mutations in GPR179 leading to autosomal-recessive complete congenital stationary night blindness

Isabelle AudoKinga BujakowskaElise OrhanCharlotte M PoloschekSabine Defoort-DhellemmesIsabelle DrumareSusanne KohlTien D LuuOdile LecompteEberhart Zrenner et al.

A1 Journal Article in AMERICAN JOURNAL OF HUMAN GENETICS

2011

Blepharophimosis-ptosis-epicanthus inversus syndrome

Carla GraziadioFelipe Nora de MoraesRafaelFabiano Machado RosaPaulo Ricardo Gazzola ZenGiovanni Marcos TraviCarolina WaldmanCristina Touguinha Neves MedinaElfride De BaereGiorgio Adriano Paskulin

A1 Journal Article in PEDIATRICS INTERNATIONAL

Childhood onset autosomal recessive bestrophinopathy

Arundhati Dev BormanAlice E DavidsonJames O'SullivanDorothy A ThompsonAnthony G RobsonElfride De BaereGraeme CM BlackAndrew R WebsterGraham E HolderBart Leroy et al.

Editorial material

Clinical utility gene card for: Axenfeld-Rieger syndrome

Nicole WeisschuhElfride De BaereBernd WissingerZeynep Tumer

Editorial material

Correction of the lower eyelid malpositioning in the blepharophimosis-ptosis-epicanthus inversus syndrome

CHRISTIAN DECOCKIlse ClaerhoutBart LeroyPhilippe KestelynAkash D ShahElfride De Baere

A1 Journal Article in OPHTHALMIC PLASTIC AND RECONSTRUCTIVE SURGERY

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

Exome sequencing and cis-regulatory mapping identify mutations in MAK, a gene encoding a regulator of ciliary length, as a cause of retinitis pigmentosa

Riza Köksal ÖzgülAnna M SiemiatkowskaDidem YücelConnie A MyersRob WJ CollinMarijke N ZonneveldAvigail BeryozkinEyal BaninCarel B HoyngL Ingeborgh van den Born et al.

A1 Journal Article in AMERICAN JOURNAL OF HUMAN GENETICS

Expanding the spectrum of FOXC1 and PITX2 mutations and copy number changes in patients with anterior segment malformations

Barbara D'haeneFrançoise MeireIlse ClaerhoutHester Y KroesAstrid PlompYvonne H ArensThomy de RavelIngele CasteelsSarah De JaegereSally Hooghe et al.

A1 Journal Article in INVESTIGATIVE OPHTHALMOLOGY

High-resolution breakpoint mapping of 10 regulatory and 32 FOXL2 encompassing deletions in BPES using targeted microarrays

Hannah VerdinBarbara D'haeneYana NovikovaPablo LapunzinaJulian NevadoBjörn MentenElfride De Baere

High-resolution breakpoint mapping of 38 regulatory and FOXL2 encompassing deletions in BPES using targeted microarrays

Hannah VerdinBarbara D'haeneYana NovikovaPablo LapunzinaJulian NevadoBjörn MentenElfride De Baere

High-resolution breakpoint mapping of 38 regulatory and FOXL2 encompassing deletions in BPES using targeted microarrays

Hannah VerdinBarbara D'haenePablo LapunzinaJulian NevadoBjörn MentenElfride De Baere

Identification and characterization of molecular defects underlying retinal dystrophies

Frauke CoppietersElfride De BaereBart Leroy

Identification of novel genes associated with systemic sclerosis through genome wide association study follow-up

José Ezequiel MartinJasper BroenOlga Y GorlovaMadelon C VonkAlexandre VoskuylAnnemie SchuerweghMarie VanthuyneVanessa SmithRene WesthovensElfride De Baere et al.

Identification of novel genetic markers associated with clinical phenotypes of systemic sclerosis through a genome-wide association strategy

Olga GorlovaJose-Ezequiel MartinBlanca RuedaBobby PC KoelemanJun YingMaria TeruelLina-Marcela Diaz-GalloJasper C BroenMadelon C VonkCarmen P Simeon et al.

A1 Journal Article in PLOS GENETICS

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

Increased levator muscle function by supramaximal resection in patients with blepharophimosis-ptosis-epicanthus inversus syndrome

CHRISTIAN DECOCKAkash D ShahChristophe DelaeyRamses ForsythWOUTER BAUTERSPhilippe KestelynElfride De BaereIlse Claerhout

A1 Journal Article in ARCHIVES OF OPHTHALMOLOGY

Insights into levator muscle dysfunction in a cohort of patients with molecularly confirmed blepharophimosis-ptosis-epicanthus inversus syndrome using high-resolution imaging, anatomic examination and histopathologic examination

CHRISTIAN DECOCKElfride De BaereWOUTER BAUTERSAkash D ShahChristophe DelaeyRamses ForsythBart LeroyPhilippe KestelynIlse Claerhout

A1 Journal Article in ARCHIVES OF OPHTHALMOLOGY

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

Large deletions of the KCNV2 gene are common in patients with cone dystrophy with supernormal rod response

Bernd WissingerSimone SchaichBritta BaumannMichael BoninHerbert JägleChristoph FriedburgBalázs VarsányiCarel B HoyngHélène DollfusJohn R Heckenliyely et al.

A1 Journal Article in HUMAN MUTATION

Mitotic microhomology-mediated replication-based mechanisms underlie non-recurrent pathogenic microdeletions of the FOXL2 gene or its regulatory domain

Hannah VerdinBarbara D'haeneYana NovikovaDIANE BEYSENPablo LapunzinaJulian NevadoClaudia CarvalhoJames LupskiBjörn MentenElfride De Baere

Nonsyndromic bilateral and unilateral optic nerve aplasia: first familial occurrence and potential implication of CYP26A1 and CYP26C1 genes

Françoise MeireIsabelle DelpierreCecile BrachetFrançoise RoulezChrisitan Van NechelFanny DepasseCatherine ChristopheBjörn MentenElfride De Baere

A1 Journal Article in MOLECULAR VISION

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

FOXL2 copy number changes in the molecular pathogenesis of BPES: unique cohort of 17 deletions

Barbara D'haeneJ NevadoM PugeatG PierquinRB LowryW ReardonA DelicadoS García-MiñaurM PalomaresW Courtens et al.

A1 Journal Article in HUMAN MUTATION

FOXL2 mutations lead to different ovarian phenotypes in BPES patients: Case Report

G MeduriA BachelotC DuflosB BstandigC PoirotC GenestieR VeitiaElfride De BaereP Touraine

A1 Journal Article in HUMAN REPRODUCTION

Functional Exploration of the Adult Ovarian Granulosa Cell Tumor-Associated Somatic FOXL2 Mutation p.Cys134Trp (c.402C > G)

BA BenayounS CaburetA DipietromariaA GeorgesBarbara D'HaenePJE PandaranayakaD L'HoteAL TodeschiniS KrishnaswamyM Fellous et al.

A1 Journal Article in PLOS ONE

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

Genome-wide association study of systemic sclerosis identifies CD247 as a new susceptibility locus

Timothy RDJ RadstakeOlga GorlovaBlanca RuedaJose-Ezequiel MartinBehrooz Z AlizadehRogelio Palomino-MoralesMarieke J CoenenMadelon C VonkAlexandre E VoskuylAnnemie J Schuerwegh et al.

A1 Journal Article in NATURE GENETICS

High-resolution breakpoint mapping of 38 regulatory and FOXL2 encompassing deletions in BPES using targeted microarrays

Hannah VerdinBarbara D'haenePablo LapunzinaJulian NevadoBjörn MentenElfride De Baere

Improved Molecular Diagnostics of Idiopathic Short Stature and Allied Disorders: Quantitative Polymerase Chain Reaction-Based Copy Number Profiling of SHOX and Pseudoautosomal Region 1

B D'haeneJan HellemansMargarita CraenJean De SchepperK DevriendtJP FrynsK KeymolenEveline DebalsA de KleinEM de Jong et al.

A1 Journal Article in JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Le rôle des altérations de FOXL2 dans les insuffisances ovariennes prématurées syndromiques et non syndromiques

Elfride De Baere

A1 Journal Article in ANNALES D ENDOCRINOLOGIE

The study of long-range genetic defects in human transcription factor related disorders

Barbara D'haeneAnne De PaepeElfride De Baere

2009

A common NYX mutation in Flemish patients with X linked CSNB

Bart LeroyBS BuddeM WittmerElfride De BaereW BergerC Zeitz

A1 Journal Article in BRITISH JOURNAL OF OPHTHALMOLOGY

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

Autosomal dominant syndrome of mental retardation, hypotelorism, and cleft palate resembling Schilbach-Rott syndrome

Vared ShkalimHagit N BarisGavriel GalRuth GleissShlomo CalderonMarja WesselsAnneke Maat-KievitBjörn MentenElfride De BaereRaoul CM Hennekam et al.

A1 Journal Article in AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Blepharophimosis, ptosis, and epicanthus inversus

Elfride De Baere

Bookchapter in GeneReviews®

Disease-Causing 7.4 kb Cis-Regulatory Deletion Disrupting Conserved Non-Coding Sequences and Their Interaction with the FOXL2 Promotor: Implications for Mutation Screening

Barbara D'haeneC AttanasioDIANE BEYSENJ DostieE LemireP BouchardM FieldK JonesB LorenzBjörn Menten et al.

A1 Journal Article in PLOS GENETICS

FOXL2 Mutations and Genomic Rearrangements in BPES

DIANE BEYSENAnne De PaepeElfride De Baere

A1 Journal Article in HUMAN MUTATION

Genotyping microarray for CSNB-associated genes

Christina ZeitzStephan LabsBirgit LorenzUrsula ForsterJanne UkstiHester Y KroesElfride De BaereBart LeroyFrans PM CremersMariana Wittmer et al.

A1 Journal Article in INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE

Homozygosity mapping reveals PDE6C mutations in patients with early-onset cone photoreceptor disorders

Alberta AHJ ThiadensAnneke I den HollanderSusanne RoosingSander B NabuursRenate C Zekveld-VroonRob WJ CollinElfride De BaereRobert K KoenekoopMary J van SchooneveldTim M Strom et al.

A1 Journal Article in AMERICAN JOURNAL OF HUMAN GENETICS

Klinische genetica, cytogenetica en moleculaire genetica

Elfride De BaereJuliaan LeroyAnne De Paepe

Bookchapter in Codex medicus

Positive and negative feedback regulates the transcription factor FOXL2 in response to cell stress: evidence for a regulatory imbalance induced by disease-causing mutations

Bérénice A BenayounFrank BatistaJana AuerAurélie DipietromariaDavid L'HôteElfride De BaereReiner A Veitia

A1 Journal Article in HUMAN MOLECULAR GENETICS

Rieger syndrome is not associated with PAX6 deletion: a correction to Acta Ophthalmol Scand 2001: 79: 201–203

Ruth RiiseBarbara D'haeneElfride De BaereKaren GrønskovKaren Brøndum-Nielsen

The transcription factor FOXL2 in ovarian function and dysfunction

Elfride De BaereMarc FellousReiner A Veitia

A1 Journal Article in FOLIA HISTOCHEMICA ET CYTOBIOLOGICA

TRPM1 Is Mutated in Patients with Autosomal-Recessive Complete Congenital Stationary Night Blindness

I AudoS KohlBart LeroyFL MunierX GuillonneauS Mohand-SaïdK BujakowskaE NandrotB LorenzM Preising et al.

A1 Journal Article in AMERICAN JOURNAL OF HUMAN GENETICS

2008

A novel mutation c.118delA in exon 1 of the androgen receptor gene resulting in complete androgen insensitivity syndrome within a large family

Karel DecaesteckerPascal PhilibertElfride De BaerePiet HoebekeJean KaufmanCharles SultanGuy T'Sjoen

Editorial material

Biallelic mutation of BEST1 causes a distinct retinopathy in humans

R BurgessID MillarBart LeroyJE UrquhartIM FearonElfride De BaerePD BrownAG RobsonGA WrightPHILIPPE ADRIAAN KESTELYN et al.

A1 Journal Article in AMERICAN JOURNAL OF HUMAN GENETICS

Identification of 34 novel and 56 known FOXL2 mutations in patients with Blepharophimosis syndrome

DIANE BEYSENSarah De JaegereDavid AmorPhilippe BouchardSophie Christin-MaitreMarc FellousPhilippe TouraineArthur W GrixRaoul HennekamFrançoise Meire et al.

A1 Journal Article in HUMAN MUTATION

Identification of copy number variants associated with BPES-like phenotypes

ACJ GijsbersBarbara D'haeneY Hilhorst-HofsteeM MannensB AlbrechtJ SeidelDR WittMK MaisenbacherBart LoeysT van Essen et al.

A1 Journal Article in HUMAN GENETICS

Missense mutations in the forkhead domain of FOXL2 lead to subcellular mislocalization, protein aggregation and impaired transactivation

DIANE BEYSENLara MoumneReiner VeitiaHartmut PetersBart LeroyAnne De PaepeElfride De Baere

A1 Journal Article in HUMAN MOLECULAR GENETICS

2007

A novel polyalanine expansion in FOXL2: the first evidence for a recessive form of the blepharophimosis syndrome (BPES) associated with ovarian dysfunction

J NALLATHAMBIL MOUMNEElfride De BaereDIANE BEYSENK USHAP SUNDARESANRA VEITIA

A1 Journal Article in HUMAN GENETICS

A structured simple form for ordering genetic tests is needed to ensure coupling of clinical detail (phenotype) with DNA variants (genotype) to ensure utility in publication and databases

RGH CottonAD AuerbachAF BrownP CarreraJ ChristodoulouM ClaustreJ ComptonDW CoxElfride De BaereJT den Dunnen et al.

Editorial material

Development of a genotyping microarray for Usher syndrome

Frans PM CremersWilliam J KimberlingMaigi KülmArjan P de BrouwerErwin van WijkHeleen te BrinkeCor WRJ CremersLies H HoefslootSandro BanfiFrancesca Simonelli et al.

A1 Journal Article in JOURNAL OF MEDICAL GENETICS

FOXL2 mutations in Indian families with blepharophimosis-ptosis-epicanthus inversus syndrome

Jeyabalan NallathambiGuruswamy NeethirajanKim UshaJethani JitendraElfride De BaerePeriasamy Sundaresan

A1 Journal Article in JOURNAL OF GENETICS

New insights in the molecular pathogenesis of the blepharophimosis syndrome (BPES)

DIANE BEYSENAnne De PaepeElfride De Baere

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

2006

Microarray-based mutation detection and phenotypic characterization of patients with Leber congenital amaurosis

Suzanne YzerBart LeroyElfride De BaereThomy J de RavelMarijke N ZonneveldKrysta VoesenekUlrich KellnerJose P Martinez CirianoJan-Tjeerd HN de FaberKlaus Rohrschneider et al.

A1 Journal Article in INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE

2005

Deletions involving long-range conserved nongenic sequences upstream and downstream of FOXL2 as a novel disease-causing mechanism in Blepharophimosis syndrome

DIANE BEYSENJeroen RaesBart LeroyA LucassenJRW YatesJ Clayton-SmithH IlyinaSS BrooksS Christin-MaitreMarc Fellous et al.

A1 Journal Article in AMERICAN JOURNAL OF HUMAN GENETICS

Foxl2 gene and the development of the ovary : a story about goat, mouse, fish and woman

Daniel BaronFrank BatistaStéphane ChaffauxJulie CocquetCorinne CotinotEdmond CribiuElfride De BaereYann GuiguenFrancis JaubertEric Pailhoux et al.

A1 Journal Article in REPRODUCTION NUTRITION DEVELOPMENT

Klinische genetica, cytogenetica en moleculaire genetica

Elfride De BaereAnne De PaepeJuliaan Leroy

Bookchapter in Codex medicus

Premature ovarian failure and forkhead transcription factor FOXL2: blepharophimosis-ptosis-epicanthus inversus syndrome and ovarian dysfunction

Elfride De BaereSilvia CopelliSandrine CaburetPaul LaissueDIANE BEYSENSophie Christin-MaitrePhilippe BouchardReiner VeitaMarc Fellous

A2 Journal Article in PEDIATRIC ENDOCRINOLOGY REVIEWS

2004

A recurrent polyalanine expansion in the transcription factor FOXL2 induces extensive nuclear and cytoplasmic protein aggregation

S CABURETA DEMAREZL MOUMNEM FELLOUSElfride De BaereRA VEITIA

A1 Journal Article in JOURNAL OF MEDICAL GENETICS

The human FOXL2 mutation database

DIANE BEYSENJo VandesompeleL MESSIAENAnne De PaepeElfride De Baere

A1 Journal Article in HUMAN MUTATION

2003

Compositional biases and polyalanine runs in humans

J COCQUETElfride De BaereS CABURETRA VEITIA

A1 Journal Article in GENETICS

FOXL2 and BPES: mutational hotspots, phenotypic variability, and revision of the genotype-phenotype correlation

Elfride De BaereDIANE BEYSENChristine OleyBirgit LorenzJulie CocquetPetra De SutterKoen DevriendtMichael DixonMarc FellousJean-Pierre Fryns et al.

A1 Journal Article in AMERICAN JOURNAL OF HUMAN GENETICS

More than 125 FOXL2 mutations and variants in BPES and POF patients in the human FOXL2 allelic variant database

DIANE BEYSENJo VandesompeleFilip PattynAnne De PaepeLudwine MessiaenElfride De Baere

Structure, evolution and expression of the FOXL2 transcription unit

J COCQUETElfride De BaereM GAREILM PANNETIERX XIAM FELLOUSRA VEITIA

A1 Journal Article in CYTOGENETIC AND GENOME RESEARCH

2002

Evolution and expression of FOXL2

J COCQUETE PAILHOUXF JAUBERTN SERVELX XIAM PANNETIERElfride De BaereLudwine MessiaenC COTINOTM FELLOUS et al.

A1 Journal Article in JOURNAL OF MEDICAL GENETICS

FOXL2 mutation screening in a large panel of POF patients and XX males

Elfride De BaereB LemercierD DurvalLudwine MessiaenM FellousR Veitia

A1 Journal Article in JOURNAL OF MEDICAL GENETICS

Novel insights in genotype-phenotype correlations in BPES through in-depth FOXL2 mutation analysis

Elfride De BaereDIANE BEYSENC OLEYPetra De SutterA GARZAC JONSRUDP KOIVISTOBart LeroyB LORENZFrançoise Meire et al.

2001

Cloning and characterization of human WDR10, a novel gene located at 3q21 encoding a WD-repeat protein that is highly expressed in pituitary and testis

C GROSSElfride De BaereA LOWH CHANGLudwine Messiaen

A1 Journal Article in DNA AND CELL BIOLOGY

Spectrum and distribution of FOXL2 gene mutations and variants in BPES, POF and XX male patients: tentative genotype-phenotype correlation

Elfride De BaereM DIXONK SMALLE JABSBart LeroyK DEVRIENDTY GILLEROTGeert MortierFrançoise MeireL VAN MALDERGEM et al.

Spectrum of FOXL2 gene mutations in blepharophimosis-ptosis-epicanthus inversus (BPES) families demonstrates a genotype-phenotype correlation

Elfride De BaereMichael J DixonKent W SmallEthylin W JabsBart LeroyKoenraad DevriendtYves GillerotGeert MortierFrançoise MeireLioinel Van Maldergem et al.

A1 Journal Article in HUMAN MOLECULAR GENETICS

2000

DNA-onderzoek in het begin van de 21ste eeuw: dromen en werkelijkheid.

Elfride De BaereLudwine Messiaen

A2 Journal Article in TIJDSCHRIFT VOOR GENEESKUNDE

Identification of BPESC1, a novel gene disrupted by a balanced chromosomal translocation, t(3;4)(q23;p15.2), in a patient with BPES.

Elfride De BaereT FUKUSHIMAK SMALLN UDARG VAN CAMPK VERHOEVENA PALOTIEA DE PAEPE

A1 Journal Article in GENOMICS

Transcript mapping of the BPES critical region at 3q23: identification of novel candidate genes

Elfride De BaereLeen De VuystAnne De PaepeLudwine Messiaen

1999

Closing in an the BPES gene on 3q23: Mapping of a de nova reciprocal translocation t(3;4)(q23;p15.2) breakpoint within a 45-kb cosmid and mapping of three candidate genes, RBP1, RBP2, and beta '-COP, distal to the breakpoint

Elfride De BaereNadine Van RoyFranki SpelemanY FUKUSHIMAAnne De PaepeLudwine Messiaen

A1 Journal Article in GENOMICS

Exclusion of the beta '-COP gene and identification of a novel candidate gene for the blepharophimosis syndrome (BPES)

Elfride De BaereE ROMANY FUKUSHIMAK VERHOEVENG VAN CAMPAnne De PaepeLudwine Messiaen

1998

Assignment of SHOX2 (alias OG12X and SHOT) to human chromosome bands 3q25 -> q26.1 by in situ hybridization.

Elfride De BaereFranki SpelemanNadine Van RoyAnne De PaepeLudwine Messiaen

A1 Journal Article in CYTOGENETICS AND CELL GENETICS

Assignment of the cellular retinol-binding protein 1 gene (RBP1) and of the coatomer beta ' subunit gene (COPB2) to human chromosome band 3q23 by in situ hybridization

Elfride De BaereFranki SpelemanNadine Van RoyAnne De PaepeLudwine Messiaen

A1 Journal Article in CYTOGENETICS AND CELL GENETICS

Assignment of the cellular retinol-binding protein 2 gene (RBP2) to human chromosome band 3q23 by in situ hybridization

Elfride De BaereFranki SpelemanNadine Van RoyK MORTIERAnne De PaepeLudwine Messiaen

A1 Journal Article in CYTOGENETICS AND CELL GENETICS