Sophie Walraedt

Genetic screening of LCA in Belgium: predominance of CEP290 and identification of potential modifier alleles in AHI1 of CEP290-related phenotypes

Frauke Coppieters, Ingele Casteels, Françoise Meire et al. · Human Mutation · 2010 · 146 citations · Full text

X-Linked Retinoschisis

Leo C. Hahn, Mary J. van Schooneveld, Nieneke L. Wesseling et al. · Ophthalmology · 2021 · 73 citations · Full text

Mutations in CTNNA1 cause butterfly-shaped pigment dystrophy and perturbed retinal pigment epithelium integrity

Nicole T.M. Saksens, Mark P. Krebs, Frederieke E. Schoenmaker-Koller et al. · Nature Genetics · 2015 · 62 citations · Full text

Genome Instability, Photoreceptor Cell, Developmental Biology +6

Mutations in Splicing Factor Genes Are a Major Cause of Autosomal Dominant Retinitis Pigmentosa in Belgian Families

Caroline Van Cauwenbergh, Frauke Coppieters, Dimitri Roels et al. · PLoS ONE · 2017 · 55 citations · Full text

Strategies for prenatal and preimplantation genetic diagnosis in Marfan syndrome (MFS)

Bart Loeys, Lieve Nuytinck, Petra Van Acker et al. · Prenatal Diagnosis · 2002 · 50 citations

Genetics, Genetic Epidemiology, Gynecology +19