Research Explorer

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Researcher

Sally Hooghe

Publications & Research Data

Awards & Distinctions

4 Results

2024

Variant curation of the largest compendium of FOXL2 coding and non-coding sequence and structural variants to improve precision medicine in BPES

Charlotte MattonJulie Van De VeldeMiriam BauwensEva D'haeneSally HoogheDave BunyanHannah VerdinElfride De Baere

2015

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

2011

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

2010

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