Research Explorer

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Project

Elucidating the role of the cis-regulatory landscape of ABCA4 in Stargardt disease, the most common inherited retinal disease

Outputs and Outcomes

Publications

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

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

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

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