Lorraine Fievet

Exome-wide Association Study Identifies GREB1L Mutations in Congenital Kidney Malformations

Simone Sanna‐Cherchi, Kamal Khan, Rik Westland et al. · The American Journal of Human Genetics · 2017 · 106 citations · Full text

Medicine, Genetics, Molecular Genetics +12

Mutations in the Kinesin-2 Motor KIF3B Cause an Autosomal-Dominant Ciliopathy

Benjamin Cogné, Xénia Latypova, Lokuliyanage Dona Samudita Senaratne et al. · The American Journal of Human Genetics · 2020 · 55 citations · Full text

Life Sciences, Genetics, Molecular Genetics +12

Loss of zebrafish Ataxin-7, a SAGA subunit responsible for SCA7 retinopathy, causes ocular coloboma and malformation of photoreceptors

Samantha Carrillo-Rosas, C. R. Weber, Lorraine Fievet et al. · Human Molecular Genetics · 2018 · 22 citations · Full text

Medicine, Genetics, Molecular Genetics +17

Biallelic loss-of-function variants in CACHD1 cause a novel neurodevelopmental syndrome with facial dysmorphism and multisystem congenital abnormalities

Marcello Scala, Kamal Khan, Claire Bénéteau et al. · Genetics in Medicine · 2023 · 11 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

AAV-Mediated CAG-Targeting Selectively Reduces Polyglutamine-Expanded Protein and Attenuates Disease Phenotypes in a Spinocerebellar Ataxia Mouse Model

Anna Niewiadomska-Cimicka, Lorraine Fievet, Magdalena Surdyka et al. · International Journal of Molecular Sciences · 2024 · 11 citations · Full text

Life Sciences, Molecular Genetics, Neuroscience +17