Vincent Cantagrel
Affiliations: | 2012 | INSERM - France |
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| Wilson MP, Kentache T, Althoff CR, et al. (2024) A pseudoautosomal glycosylation disorder prompts the revision of dolichol biosynthesis. Cell |
| Scala M, Tomati V, Ferla M, et al. (2024) De novo variants in DENND5B cause a neurodevelopmental disorder. American Journal of Human Genetics |
| Kaiyrzhanov R, Rocca C, Suri M, et al. (2022) Biallelic loss of EMC10 leads to mild to severe intellectual disability. Annals of Clinical and Translational Neurology |
| Riedhammer KM, Burgemeister AL, Cantagrel V, et al. (2022) Suleiman-El-Hattab syndrome: a histone modification disorder caused by TASP1 deficiency. Human Molecular Genetics |
| Coolen M, Altin N, Rajamani K, et al. (2022) Recessive PRDM13 mutations cause fatal perinatal brainstem dysfunction with cerebellar hypoplasia and disrupt Purkinje cells differentiation. American Journal of Human Genetics |
| Lesieur-Sebellin M, Till M, Khau Van Kien P, et al. (2021) Terminal 6q deletions cause brain malformations, a phenotype mimicking heterozygous DLL1 pathogenic variants: A multicenter retrospective case series. Prenatal Diagnosis |
| Kour S, Rajan DS, Fortuna TR, et al. (2021) Loss of function mutations in GEMIN5 cause a neurodevelopmental disorder. Nature Communications. 12: 2558 |
| Duval R, Nicolas G, Willemetz A, et al. (2021) Inherited glycosylphosphatidylinositol defects cause the rare Emm-negative blood phenotype and developmental disorders. Blood |
| Ucuncu E, Rajamani K, Wilson MSC, et al. (2020) MINPP1 prevents intracellular accumulation of the chelator inositol hexakisphosphate and is mutated in Pontocerebellar Hypoplasia. Nature Communications. 11: 6087 |
| Barbosa S, Greville-Heygate S, Bonnet M, et al. (2020) Opposite Modulation of RAC1 by Mutations in TRIO Is Associated with Distinct, Domain-Specific Neurodevelopmental Disorders. American Journal of Human Genetics |