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Vincent Cantagrel

Mutations in the Cilia Gene ARL13B Lead to the Classical Form of Joubert Syndrome
2008 · Vincent Cantagrel, Jennifer L. Silhavy, et al. · The American Journal of Human Genetics · 403
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SRD5A3 Is Required for Converting Polyprenol to Dolichol and Is Mutated in a Congenital Glycosylation Disorder
2010 · Vincent Cantagrel, Dirk J. Lefeber, et al. · Cell · 315
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CLP1 Founder Mutation Links tRNA Splicing and Maturation to Cerebellar Development and Neurodegeneration
2014 · Ashleigh E. Schaffer, Veerle R.C. Eggens, et al. · Cell · 286
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Disruption of POGZ Is Associated with Intellectual Disability and Autism Spectrum Disorders
2016 · Holly A.F. Stessman, Marjolein H. Willemsen, et al. · The American Journal of Human Genetics · 163
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Biallelic mutations in SNX14 cause a syndromic form of cerebellar atrophy and lysosome-autophagosome dysfunction
2015 · Naiara Akizu, Vincent Cantagrel, et al. · Nature Genetics · 138
Faulty Initiation of Proteoglycan Synthesis Causes Cardiac and Joint Defects
2011 · Sevjidmaa Baasanjav, Lihadh Al-Gazali, et al. · The American Journal of Human Genetics · 134
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Mutations in the Glycosylphosphatidylinositol Gene PIGL Cause CHIME Syndrome
2012 · Bobby G. Ng, Karl Hackmann, et al. · The American Journal of Human Genetics · 126
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Mutations in LAMB1 Cause Cobblestone Brain Malformation without Muscular or Ocular Abnormalities
2013 · Farid Radmanesh, Ahmet Okay Caglayan, et al. · The American Journal of Human Genetics · 121
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AMPD2 Regulates GTP Synthesis and Is Mutated in a Potentially Treatable Neurodegenerative Brainstem Disorder
2013 · Naiara Akizu, Vincent Cantagrel, et al. · Cell · 120
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De novo mutation screening in childhood-onset cerebellar atrophy identifies gain-of-function mutations in the CACNA1G calcium channel gene
2018 · Jean Chemin, Karine Siquier-Pernet, et al. · Brain · 110
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Opposite Modulation of RAC1 by Mutations in TRIO Is Associated with Distinct, Domain-Specific Neurodevelopmental Disorders
2020 · Sónia Barbosa, Stephanie Greville-Heygate, et al. · The American Journal of Human Genetics · 107
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A novel cerebello-ocular syndrome with abnormal glycosylation due to abnormalities in dolichol metabolism
2010 · Eva Morava, Ron A. Wevers, et al. · Brain · 105
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From glycosylation disorders to dolichol biosynthesis defects: a new class of metabolic diseases
2011 · Vincent Cantagrel, Dirk J. Lefeber · Journal of Inherited Metabolic Disease · 99
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Disruption of a new X linked gene highly expressed in brain in a family with two mentally retarded males
2004 · V Cantagrel, A-M Lossi, et al. · Journal of Medical Genetics · 91
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Biallelic mutations in neurofascin cause neurodevelopmental impairment and peripheral demyelination
2019 · Stephanie Efthymiou, Vincenzo Salpietro, et al. · Brain · 86
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MINPP1 prevents intracellular accumulation of the chelator inositol hexakisphosphate and is mutated in Pontocerebellar Hypoplasia
2020 · Ekin Ucuncu, Karthyayani Rajamani, et al. · Nature Communications · 64
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Genotype-phenotype correlations in individuals with pathogenic RERE variants
2018 · Valerie K. Jordan, Brieana Fregeau, et al. · Human Mutation · 64
High N-glycan multiplicity is critical for neuronal adhesion and sensitizes the developing cerebellum to N-glycosylation defect
2018 · Daniel Medina-Cano, Ekin Ucuncu, et al. · eLife · 59
Identification of a novel ARL13B variant in a Joubert syndrome-affected patient with retinal impairment and obesity
2014 · Sophie Thomas, Vincent Cantagrel, et al. · European Journal of Human Genetics · 59
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WDR81 mutations cause extreme microcephaly and impair mitotic progression in human fibroblasts and Drosophila neural stem cells
2017 · Mara Cavallin, Maria A Rujano, et al. · Brain · 57
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Loss of function mutations in GEMIN5 cause a neurodevelopmental disorder
2021 · Sukhleen Kour, Deepa S. Rajan, et al. · Nature Communications · 54
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Utility of whole exome sequencing for the early diagnosis of pediatric-onset cerebellar atrophy associated with developmental delay in an inbred population
2016 · Hisham Megahed, Michaël Nicouleau, et al. · Orphanet Journal of Rare Diseases · 46
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Truncation ofNHEJ1 in a patient with polymicrogyria
2006 · Vincent Cantagrel, Anne-Marie Lossi, et al. · Human Mutation · 39
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A pseudoautosomal glycosylation disorder prompts the revision of dolichol biosynthesis
2024 · Matthew P. Wilson, Takfarinas Kentache, et al. · Cell · 33
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Inherited glycosylphosphatidylinositol defects cause the rare Emm-negative blood phenotype and developmental disorders
2021 · Romain Duval, Gaël Nicolas, et al. · Blood · 33
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Works count: 65
Citation count: 3,117
H-index: 27
I10-index: 36
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