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

European Training Network to Diagnose: Understand and Treat Stargardt Disease, a Frequent Inherited Blinding Disorder - StarT

Outputs and Outcomes

Publications

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 DhaenensCheryl Y. Gregory-EvansLies HoefslootAdriana Iglesias GonzalezSusanne KohlTheresia ZulegerTanguy DemaretSari TuupanenJoke RuysLuc Van OsElise PlatteauJulie JacobSascha VermeerLaurence PostelmansKarin DahanIsabelle MaystadtFlorence RasquinAlberta A. H. J. ThiadensKirk A. J. StephensonNarin SheriVasily SmirnovIan M. MacDonaldKevin Gregory-EvansT. Michael RedmondJulie De ZaeytijdBart LeroyMiriam BauwensElfride De Baere[missing] on behalf of the Dominant RPE65-p.(E519K) Consortium et al.

A1 Journal Article in INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE

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. BaxYesim KesimEmma C. KivuvaCatherine Vincent-DelormeSoeren S. LienkampJulie PlaisanciéElfride De BaerePatrick CalvasKris VleminckxElena V. SeminaNicola K. Ragge 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. WesselsEmma DelanoteElfride De BaereFilip Van NieuwerburghSarah De KeulenaerBarbara FerrariStefano FerrariFrauke CoppietersFrans P. M. CremersErwin van WykSusanne RoosingErik de VriezePeter A. C. 't Hoen 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 MahieuSarah VergultAna NetoJosé Luis Gómez-SkarmetaJuan Ramón Martínez-MoralesMiriam BauwensJuan Jesús TenaElfride De Baere 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

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 SompeleMiriam BauwensHanne LenaertsQuinten MahieuDragana JosifovaCarlo RivoltaRaymond T. O'KeefeJamie EllingfordAndrew R. WebsterGavin ArnoCarmen AyusoJulie De ZaeytijdBart LeroyElfride De BaereFrauke CoppietersGenomics England Res Consortium et al.

A1 Journal Article in GENOME MEDICINE

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 GarantoRob W.J. Collin et al.

A1 Journal Article in MOLECULAR THERAPY

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. TruongNúria Roura GruartmonerMattias Van HeetveldeJoachim WolfRobert MergetSabine Grasshoff-DerrJo Van DorpeAnne HoorensHeidi StoehrLuke MansardAnne-Francoise RouxThomas LangmannKatharina DannhausenDavid RosenkranzKarl M. WissingMichel Van LintHeidi RossmannFriederike HaeuserPeter NuernbergHolger ThieleUlrich ZechnerJillian N. PearringElfride De BaereHanno J. Bolz et al.

A1 Journal Article in JOURNAL OF CLINICAL INVESTIGATION

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 RosseelMattias Van HeetveldeSarah VergultIrina BalikovaArthur A. BergenCamiel J. F. BoonJulie De ZaeytijdChris F. InglehearnBohdan KousalBart LeroyCarlo RivoltaVeronika VaclavikJenneke van den EndeMary J. van SchooneveldJose Luis Gomez-SkarmetaJuan J. TenaJuan R. Martinez-MoralesPetra LiskovaKris VleminckxElfride De Baere et al.

A1 Journal Article in AMERICAN JOURNAL OF HUMAN GENETICS

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