Francesca Mattioli

Rare De Novo Missense Variants in RNA Helicase DDX6 Cause Intellectual Disability and Dysmorphic Features and Lead to P-Body Defects and RNA Dysregulation

Chris Balak, Marianne Bénard, Élise Schaefer et al. · The American Journal of Human Genetics · 2019 · 84 citations · Full text

Rna Dysregulation, Allelic Variant, Genetic Disorder +8

Mutations in Histone Acetylase Modifier BRPF1 Cause an Autosomal-Dominant Form of Intellectual Disability with Associated Ptosis

Francesca Mattioli, Élise Schaefer, Alex Magee et al. · The American Journal of Human Genetics · 2016 · 62 citations · Full text

Chromatin, Mendelian Disorder, Genetic Disorder +7

De Novo and Bi-allelic Pathogenic Variants in NARS1 Cause Neurodevelopmental Delay Due to Toxic Gain-of-Function and Partial Loss-of-Function Effects

Andreea Manole, Stéphanie Efthymiou, Emer O’Connor et al. · The American Journal of Human Genetics · 2020 · 59 citations · Full text

De novo and inherited variants in ZNF292 underlie a neurodevelopmental disorder with features of autism spectrum disorder

Ghayda Mirzaa, Jessica X. Chong, Amélie Piton et al. · Genetics in Medicine · 2019 · 44 citations · Full text

Neurodevelopmental Disorders, Inherited Variants, Syndromic Autism +10

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 · 39 citations · Full text

Neurodevelopmental Disorders, Developmental Biology, Genetics +8