Publications and ressources

Recessive PRDM13 mutations cause fatal perinatal brainstem dysfunction with cerebellar hypoplasia and disrupt Purkinje cell differentiation.

Marion Coolen, Nami Altin, Karthyayani Rajamani , Giulia Barcia, Aurore POULIET, Patrick Nitschké, Nathalie Boddaert, Antonio Rausell, Lydie Burglen, Vincent Cantagrel

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Opposite Modulation of RAC1 by Mutations in TRIO Is Associated with Distinct, Domain-Specific Neurodevelopmental Disorders.

Vincent Cantagrel

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Loss of the sphingolipid desaturase DEGS1 causes hypomyelinating leukodystrophy.

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Biallelic mutations in neurofascin cause neurodevelopmental impairment and peripheral demyelination.

Vincent Cantagrel

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De novo mutation screening in childhood-onset cerebellar atrophy identifies gain-of-function mutations in the CACNA1G calcium channel gene.

Vincent Cantagrel

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Whole-exome sequence analysis highlights the role of unmasked recessive mutations in copy number variants with incomplete penetrance.

Valérie Malan

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High N-glycan multiplicity is critical for neuronal adhesion and sensitizes the developing cerebellum to N-glycosylation defect.

Vincent Cantagrel, Nathalie Lefort

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AMPA-receptor specific biogenesis complexes control synaptic transmission and intellectual ability.

Patrick Nitschké, Karine Siquier

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Effect of Cell-Free DNA Screening vs Direct Invasive Diagnosis on Miscarriage Rates in Women With Pregnancies at High Risk of Trisomy 21: A Randomized Clinical Trial.

Yves Ville

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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.

Vincent Cantagrel

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WDR81 mutations cause extreme microcephaly and impair mitotic progression in human fibroblasts and Drosophila neural stem cells.

Nadia Bahi-Buisson, Sophie Thomas, Matias Simons, Vincent Cantagrel, Meriem Garfa-Traoré , Patrick Nitschké, Tania Attié-Bitach

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Regulation of human cerebral cortical development by EXOC7 and EXOC8, components of the exocyst complex, and roles in neural progenitor cell proliferation and survival

Lydie Burglen

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Recessive PRDM13 mutations cause fatal perinatal brainstem dysfunction with cerebellar hypoplasia and disrupt Purkinje cell differentiation

Lydie Burglen

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16p13.11p11.2 triplication syndrome: a new recognizable genomic disorder characterized by optical genome mapping and whole genome sequencing

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MINPP1 prevents intracellular accumulation of the chelator inositol hexakisphosphate and is mutated in Pontocerebellar Hypoplasia

Vincent Cantagrel

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