Gaëlle Hayot

Heterozygous Loss-of-Function SEC61A1 Mutations Cause Autosomal-Dominant Tubulo-Interstitial and Glomerulocystic Kidney Disease with Anemia

Nikhita Bolar, Christelle Golzio, Martina Živná et al. · The American Journal of Human Genetics · 2016 · 159 citations · Full text

Medicine, Genetics, Molecular Genetics +17

De Novo Frameshift Variants in the Neuronal Splicing Factor NOVA2 Result in a Common C-Terminal Extension and Cause a Severe Form of Neurodevelopmental Disorder

Francesca Mattioli, Gaëlle Hayot, Nathalie Drouot et al. · The American Journal of Human Genetics · 2020 · 41 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

A dominant vimentin variant causes a rare syndrome with premature aging

Benjamin Cogné, Jamal-Eddine Bouameur, Gaëlle Hayot et al. · European Journal of Human Genetics · 2020 · 33 citations · Full text

Life Sciences, Genetics, Pediatrics +7

Loss of autism-candidate CHD8 perturbs neural crest development and intestinal homeostatic balance

Gaëlle Hayot, Mathieu Massonot, Céline Keime et al. · Life Science Alliance · 2022 · 19 citations · Full text

Life Sciences, Developmental Biology, Genetics +17