Concepedia
Statistics
Publications
44
Citations
2.5K
H-Index
32
Active since
2010
Affiliations
Inserm(Current)
Centre National de la Recherche Scientifique
Génétique Médicale & Génomique Fonctionelle
Institut du Thorax
Centre Hospitalier Universitaire de Nantes
Thomas Besnard is an author at Inserm specializing in genetics, life sciences, and molecular genetics.
Publications per year
2010–2025
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
Life Sciences, Genetics, Molecular Genetics +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
Life Sciences, Developmental Biology, Genetics +15
Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures
Slavé Petrovski, Sébastien Küry, Candace T. Myers et al. · The American Journal of Human Genetics · 2016 · 119 citations · Full text
Life Sciences, Genetics, Molecular Genetics +14
Usher syndrome type 2 caused by activation of an USH2A pseudoexon: Implications for diagnosis and therapy
Christel Vaché, Thomas Besnard, Pauline Le Berre et al. · Human Mutation · 2011 · 118 citations
Life Sciences, Genetics, Molecular Genetics +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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