Fouzia Studer

Proteasome subunit <i>PSMC3</i> variants cause neurosensory syndrome combining deafness and cataract due to proteotoxic stress

Ariane Kröll‐Hermi, Frédéric Ebstein, Corinne Stoetzel et al. · EMBO Molecular Medicine · 2020 · 65 citations · Full text

Molecular Neuroscience, Genetic Disorder, Medicine +8

Predominantly Cone-System Dysfunction as Rare Form of Retinal Degeneration in Patients With Molecularly Confirmed Bardet-Biedl Syndrome

Sophie Scheidecker, Sarah Hull, Yaumara Perdomo et al. · American Journal of Ophthalmology · 2015 · 38 citations

Cone-system Dysfunction, Ocular Disease, Retina +8

Novel<i>IQCE</i>variations confirm its role in postaxial polydactyly and cause ciliary defect phenotype in zebrafish

Alejandro Estrada‐Cuzcano, Christelle Etard, Clarisse Delvallée et al. · Human Mutation · 2019 · 11 citations · Full text

Atypical Retinal Phenotype in a Patient With Alström Syndrome and Biallelic Novel Pathogenic Variants in ALMS1, Including a de novo Variation

Laura Mauring, Louise F. Porter, Valérie Pelletier et al. · Frontiers in Genetics · 2020 · 11 citations · Full text

<i>MSX2</i>Gene Duplication in a Patient with Eye Development Defects

Julie Plaisancié, Corinne Collet, Valérie Pelletier et al. · Ophthalmic Genetics · 2014 · 10 citations