Concepedia

Vincent Cantagrel

VC

Statistics

Publications

29

Citations

2.8K

H-Index

25

Active since

2004

Affiliations

Inserm(Current)

Institut des Maladies Génétiques Imagine

Université Paris Cité

Hôpital Necker-Enfants Malades

Assistance Publique – Hôpitaux de Paris

Vincent Cantagrel is an author at Inserm specializing in life sciences, genetics, and neurogenetic disorders.

ORCID

Publications per year

2004–2024

29

Publications

29

Mutations in the Cilia Gene ARL13B Lead to the Classical Form of Joubert Syndrome

Vincent Cantagrel, Jennifer L. Silhavy, Stephanie Bielas et al. · The American Journal of Human Genetics · 2008 · 399 citations · Full text

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SRD5A3 Is Required for Converting Polyprenol to Dolichol and Is Mutated in a Congenital Glycosylation Disorder

Vincent Cantagrel, Dirk J. Lefeber, Bobby G. Ng et al. · Cell · 2010 · 311 citations · Full text

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CLP1 Founder Mutation Links tRNA Splicing and Maturation to Cerebellar Development and Neurodegeneration

Ashleigh E. Schaffer, Veerle Rc Eggens, Ahmet Okay Çağlayan et al. · Cell · 2014 · 283 citations · Full text

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Disruption of POGZ Is Associated with Intellectual Disability and Autism Spectrum Disorders

Holly A.F. Stessman, Marjolein H. Willemsen, Michaela Fencková et al. · The American Journal of Human Genetics · 2016 · 168 citations · Full text

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Biallelic mutations in SNX14 cause a syndromic form of cerebellar atrophy and lysosome-autophagosome dysfunction

Naiara Akizu, Vincent Cantagrel, Maha S. Zaki et al. · Nature Genetics · 2015 · 136 citations · Full text

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