Research Explorer

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Project

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

Outputs and Outcomes

Publications

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

Evolutionary origin of Hoxc13-dependent skin appendages in amphibians

Marjolein CarronAttila Placido SachslehnerMünevver Burcu CicekdalInge BruggemanSuzan DemuynckBahar GolabiElfride De BaereWim DeclercqErwin TschachlerKris VleminckxLeopold Eckhart 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 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

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 RizelAbigail R MoyeAudrey MeunierHoai Viet TranAlexandre P MoulinQuinten MahieuMattias Van HeetveldeGavin ArnoCarlo RivoltaElfride De BaereTamar Ben-Yosef 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. 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

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-ClermontRobert C. SergottAlfredo A. SadunGema Rebolleda FernandezBart K. ChwaliszRudrani BanikFabienne BazinMichel RouxEric D. CoxMagali TaielJose-Alain SahelLHON REFLECT Study Grp 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 BaereSandro BanfiMiriam BauwensTamar Ben-YosefBéatrice BocquetMarieke De BruyneBerta de la CerdaFrauke CoppietersPietro FarinelliThomas GuignardChris F. InglehearnMarianthi KaraliUlrika KjellströmRobert KoenekoopBart de KoningBart LeroyMartin McKibbinIsabelle MeunierKonstantinos NikopoulosKoji M. NishiguchiJames A. PoulterCarlo RivoltaEnrique Rodríguez de la RúaPatrick SaundersFrancesca SimonelliYasmin TatourFrancesco TestaAlberta A. H. J. ThiadensCarmel ToomesAnna M. TracewskaHoai Viet TranHiroaki UshidaVeronika VaclavikVirginie J. M. VerhoevenMaartje van de VorstChristian GilissenAlexander HoischenFrans P. M. CremersSusanne Roosing 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 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

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 StrubbeCaroline Van CauwenberghJulie De ZaeytijdSOPHIE WALRAEDTElfride De BaereRajarshi MukherjeeMartin McKibbinMagda A. Meester-SmoorAlberta A.H.J. ThiadensSaoud Al-KhuzaeiEngin AkyolAndrew J. LoteryMaria M. van GenderenJeannette Ossewaarde-van NorelL. Ingeborgh van den BornCarel B. HoyngCaroline C.W. KlaverSusan M. DownesArthur A. BergenBart LeroyMichel MichaelidesCamiel J.F. Boon 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 BackerPaul CouckeOlivier Vanakker et al.

A1 Journal Article in JOURNAL OF CLINICAL MEDICINE

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