Concepedia

Marie Vincent

MV

Statistics

Publications

73

Citations

4.2K

H-Index

37

Active since

1988

Affiliations

Inserm(Current)

Génétique Médicale & Génomique Fonctionelle

Centre National de la Recherche Scientifique

Centre Hospitalier Universitaire de Nantes

Assistance Publique – Hôpitaux de Paris

Marie Vincent is an author at Inserm specializing in life sciences, genetics, and molecular genetics.

ORCID

Publications per year

1988–2025

73

Publications

73

Pathogenic DDX3X Mutations Impair RNA Metabolism and Neurogenesis during Fetal Cortical Development

Ashley L. Lennox, Mariah L. Hoye, Ruiji Jiang et al. · Neuron · 2020 · 222 citations · Full text

, , +12

Rare variants in the genetic background modulate cognitive and developmental phenotypes in individuals carrying disease-associated variants

Lucilla Pizzo, Matthew Jensen, Andrew Polyak et al. · Genetics in Medicine · 2018 · 221 citations · Full text

, , +17

De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability

Sébastien Küry, Geeske M. van Woerden, Thomas Besnard et al. · The American Journal of Human Genetics · 2017 · 201 citations · Full text

, , +12

Complex Compound Inheritance of Lethal Lung Developmental Disorders Due to Disruption of the TBX-FGF Pathway

Justyna A. Karolak, Marie Vincent, Gail Deutsch et al. · The American Journal of Human Genetics · 2019 · 183 citations · Full text

, , +15

Mutations in signal recognition particle SRP54 cause syndromic neutropenia with Shwachman-Diamond–like features

Raphaël Carapito, Martina Konantz, Catherine Paillard et al. · Journal of Clinical Investigation · 2017 · 174 citations · Full text

, , +16

1–5 of 73