Concepedia
Statistics
Publications
82
Citations
3.8K
H-Index
38
Active since
2012
Affiliations
Inserm(Current)
Génétique Médicale & Génomique Fonctionelle
Centre National de la Recherche Scientifique
Assistance Publique – Hôpitaux de Paris
Centre Hospitalier Universitaire de Nantes
Mathilde Nizon is an author at Inserm specializing in life sciences, genetics, and molecular genetics.
Publications per year
2012–2025
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
Life Sciences, Genetics, Molecular Genetics +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
Life Sciences, Genetics, Molecular Genetics +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
Genotype-phenotype correlations in <i>SCN8A</i> -related disorders reveal prognostic and therapeutic implications
Katrine M. Johannesen, Yuanyuan Liu, Mahmoud Koko et al. · Brain · 2021 · 146 citations · Full text
Life Sciences, Genetics, Neuroscience +17
De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder
Sébastien Küry, Thomas Besnard, Frédéric Ebstein et al. · The American Journal of Human Genetics · 2017 · 110 citations · Full text
Life Sciences, Molecular Biology, Molecular Genetics +16
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