Research Explorer

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

Project

Precision medicine in inherited blindness using integrated omics in human and animal models

Outputs & Impact

Publications & research data ( 29 )

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

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

Precise, predictable genome integrations by deep-learning-assisted design of microhomology-based templates

Thomas NaertTaiyo YamamotoShuting HanRuth RöckMelanie HornPhilipp BethgeNikita VladimirovFabian F. VoigtJoana Figueiro-SilvaRuxandra Bachmann-Gagescu et al.

A1 Journal Article in NATURE BIOTECHNOLOGY

Cracking rare disorders : a new minimally invasive RNA-seq protocol

Laurenz De CockErika D'haenensLies VantommeLynn BackersAude BeyensKathleen ClaesGriet De ClercqRobin de PutterCandy KumpsNika Schuermans et al.

A1 Journal Article in NPJ GENOMIC MEDICINE

Loss of function of the zinc finger homeobox 4 gene, ZFHX4, underlies a neurodevelopmental disorder

Maria del Rocio Pérez BacaMaría Palomares-BraloMichiel VanhooydonckLisa HamerlinckEva D'haeneSebastian LeimbacherEva JacobsLaurenz De CockErika D'haenensAnnelies Dheedene et al.

A1 Journal Article in AMERICAN JOURNAL OF HUMAN GENETICS

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

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

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

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

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

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

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

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

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

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

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

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

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

msqrob2PTM : differential abundance and differential usage analysis of MS-based proteomics data at the post-translational modification and peptidoform level

Nina DemeulemeesterMarie GébelinLucas Caldi GomesPaul LingorChristine CarapitoLennart MartensLieven Clement

A1 Journal Article in MOLECULAR & CELLULAR PROTEOMICS

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

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

Randomized trial of bilateral gene therapy injection for m.11778G>A MT-ND4 Leber optic neuropathy

Nancy J. NewmanPatrick Yu-Wai-ManPrem S. SubramanianMark L. MosterAn-Guor WangSean P. DonahueBart LeroyValerio CarelliValerie BiousseCatherine Vignal-Clermont et al.

A1 Journal Article in BRAIN

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

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

Engraftment of allotransplanted tumor cells in adult rag2 mutant Xenopus tropicalis

Dieter TulkensDionysia DimitrakopoulouMarthe BoelensTom Van NieuwenhuysenSuzan DemuynckWendy ToussaintDavid CreytensPieter Van VlierbergheKris Vleminckx

A1 Journal Article in CANCERS

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

Serum calcification propensity T50 associates with disease severity in patients with pseudoxanthoma elasticum

Lukas NolletMatthias Van GilsSuzanne FischerLaurence CampensSwapna KarthikAndreas PaschJulie De ZaeytijdBart LeroyDaniel DevosTine De Backer et al.

A1 Journal Article in JOURNAL OF CLINICAL MEDICINE

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

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

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

A1 Journal Article in AMERICAN JOURNAL OF HUMAN GENETICS

Activities ( 0 )

Results

Impact narratives ( 1 )

Area(s): Health

Patents ( 0 )