Vincent CANTAGREL
Genetics of Neurodevelopmental Disorders
Team
Scientific Publications
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2022Journal (source)Am J Hum Genet
Recessive PRDM13 mutations cause fatal perinatal brainstem dysfunction with c...
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2020Journal (source)Nat Commun
MINPP1 prevents intracellular accumulation of the chelator inositol hexakisph...
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2020Journal (source)Genet Med.
Regulation of human cerebral cortical development by EXOC7 and EXOC8, compone...
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2019Journal (source)J. Clin. Invest.
Loss of the sphingolipid desaturase DEGS1 causes hypomyelinating leukodystrophy.
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2019Journal (source)Brain
Biallelic mutations in neurofascin cause neurodevelopmental impairment and pe...
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2018Journal (source)Elife
High N-glycan multiplicity is critical for neuronal adhesion and sensitizes t...
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2018Journal (source)JAMA
Effect of Cell-Free DNA Screening vs Direct Invasive Diagnosis on Miscarriage...
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2018Journal (source)Brain
De novo mutation screening in childhood-onset cerebellar atrophy identifies g...
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2017Journal (source)Orphanet J Rare Dis
Utility of whole exome sequencing for the early diagnosis of pediatric-onset ...
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2017Journal (source)Nat Commun
AMPA-receptor specific biogenesis complexes control synaptic transmission and...
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Journal (source)Proc. Natl. Acad. Sci. U.S.A.
Whole-exome sequencing to analyze population structure, parental inbreeding, ...