Vincent Cantagrel

Identifiants chercheurs

IdHAL :

vincent-cantagrel

ORCID :

0000-0002-5180-4848

IdRef :

117651877

Publications

Article dans une revue (38)

ACTB deletions or single-nucleotide loss-of-function variants: expansion and further delineation of the phenotype and review of the literature Marion Lesieur-Sebellin,Kristen Wigby,Elise Schaefer,Aurélie Gouronc,Nicolas Chatronet al. Journal of Medical Genetics, 2026, 63 (1), pp.10-14. ⟨10.1136/jmg-2025-110631⟩ Article dans une revue hal-05525627v1
Electrophysiological classification of CACNA1G gene variants associated with neurodevelopmental and neurological disorders Amaël Davakan,Leos Cmarko,Barbara Ribeiro Oliveira-Mendes,Claire Bernat,Najlae Boulaliet al. Frontiers in Pharmacology, 2025, 16, pp.1613072. ⟨10.3389/fphar.2025.1613072⟩ Article dans une revue hal-05326387v1
The characterization of new de novo CACNA1G variants affecting the intracellular gate of Cav3.1 channel broadens the spectrum of neurodevelopmental phenotypes in SCA42ND. Leila Qebibo,Amaël Davakan,Mathilde Nesson-Dauphin,Najlae Boulali,Karine Siquier-Pernetet al. Genetics in Medicine, 2025, 27 (3), pp.101337. ⟨10.1016/j.gim.2024.101337⟩ Article dans une revue hal-04846047v1
LSM7 variants involving key amino acids for LSM complex function cause a neurodevelopmental disorder with leukodystrophy and cerebellar atrophy Matis Crespin,Karine Siquier-Pernet,Pauline Marzin,Christine Bole-Feysot,Valérie Malanet al. Human Genetics and Genomics Advances, 2025, 6, ⟨10.1016/j.xhgg.2024.100372⟩ Article dans une revue hal-04974071v1
Conference Report: Cerebellar Development and Disease at Single-Cell Resolution Lena Kutscher,Davide Aprile,N Sumru Bayin,Esther Becker,Valentina Cerratoet al. The Cerebellum, 2025, 24 (4), pp.109. ⟨10.1007/s12311-025-01864-5⟩ Article dans une revue hal-05137479v1
Deciphering the genetic basis of developmental language disorder in children without intellectual disability, autism or apraxia of speech Clothilde Ormieres,Marion Lesieur-Sebellin,Karine Siquier-Pernet,Geoffroy Delplancq,Marlene Rioet al. Molecular Autism, 2025, 16, ⟨10.1186/s13229-025-00642-8⟩ Article dans une revue hal-04973862v1
Human plasma inositol hexakisphosphate (InsP6) phosphatase identified as the Multiple Inositol Polyphosphate Phosphatase 1 (MINPP1) Valeria Fedeli,Jingyi Wang,Vincent Cantagrel,Adolfo Saiardi microPublication biology, 2024, 2024, ⟨10.17912/micropub.biology.001390⟩ Article dans une revue hal-05137484v1
A pseudoautosomal glycosylation disorder prompts the revision of dolichol biosynthesis Matthew P. Wilson,Takfarinas Kentache,Charlotte Althoff,Celine Schulz,Geoffroy de Bettignieset al. Cell, 2024, Cell, 187 (14), Online ahead of print. ⟨10.1016/j.cell.2024.04.041⟩ Article dans une revue hal-04632574v1
De novo variants in DENND5B cause a neurodevelopmental disorder Marcello Scala,Valeria Tomati,Matteo Ferla,Mariateresa Lena,Julie S Cohenet al. American Journal of Human Genetics, 2024, 111, pp.529 - 543. ⟨10.1016/j.ajhg.2024.02.001⟩ Article dans une revue hal-04982455v1
A non-coding variant in the Kozak sequence of RARS2 strongly decreases protein levels and causes pontocerebellar hypoplasia Romain Nicolle,Nami Altin,Karine Siquier-Pernet,Sherlina Salignac,Pierre Blancet al. BMC Medical Genomics, 2023, 16, ⟨10.1186/s12920-023-01582-z⟩ Article dans une revue hal-04974089v1
Suleiman-El-Hattab syndrome: a histone modification disorder caused by TASP1 deficiency Korbinian M Riedhammer,Anna L Burgemeister,Jeanne Amiel,Vincent Cantagrel,Karine Siquier-Pernetet al. Human Molecular Genetics, 2022, 31 (18), pp.3083 - 3094. ⟨10.1093/hmg/ddac098⟩ Article dans une revue hal-03853581v1
Biallelic loss of EMC10 leads to mild to severe intellectual disability Rauan Kaiyrzhanov,Clarissa Rocca,Mohnish Suri,Sughra Gulieva,Maha S Zakiet al. ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY, 2022, 9 (7), ⟨10.1002/acn3.51602⟩ Article dans une revue hal-04972115v1
Suleiman-El-Hattab syndrome: a histone modification disorder caused by TASP1 deficiency Korbinian Riedhammer,Anna Burgemeister,Vincent Cantagrel,Jeanne Amiel,Karine Siquier-Pernetet al. Human Molecular Genetics, 2022, 31 (18), pp.3083-3094. ⟨10.1093/hmg/ddac098⟩ Article dans une revue hal-03852536v1
Terminal 6q deletions cause brain malformations, a phenotype mimicking heterozygous DLL1 pathogenic variants : A multicenter retrospective case series Marion Lesieur-Sebellin,Marianne Till,Philippe Khau van Kien,Bérénice Herve,Nicolas Bourgonet al. Prenatal Diagnosis, 2022, 42 (1), pp.118-135. ⟨10.1002/pd.6074⟩ Article dans une revue hal-03481652v1
Recessive PRDM13 mutations cause fatal perinatal brainstem dysfunction with cerebellar hypoplasia and disrupt Purkinje cells differentiation Marion Coolen,Nami Altin,Karthyayani Rajamani,Eva Pereira,Karine Siquier-Pernetet al. American Journal of Human Genetics, 2022, ⟨10.1016/j.ajhg.2022.03.010⟩ Article dans une revue hal-03654319v1
16p13.11p11.2 triplication syndrome: a new recognizable genomic disorder characterized by optical genome mapping and whole genome sequencing Romain Nicolle,Karine Siquier-Pernet,Marlène Rio,Anne Guimier,Emmanuelle Ollivieret al. European Journal of Human Genetics, 2022, 30, pp.712 - 720. ⟨10.1038/s41431-022-01094-x⟩ Article dans une revue hal-04982469v1
Loss of function mutations in GEMIN5 cause a neurodevelopmental disorder Sukhleen Kour,Deepa S Rajan,Tyler R Fortuna,Eric N Anderson,Caroline Wardet al. Nature Communications, 2021, 12 (1), ⟨10.1038/s41467-021-22627-w⟩ Article dans une revue hal-04972113v1
Inherited glycosylphosphatidylinositol defects cause the rare Emm-negative blood phenotype and developmental disorders Romain Duval,Gaël Nicolas,Alexandra Willemetz,Yoshiko Murakami,Mahmoud Mikdaret al. Blood, 2021, ⟨10.1182/blood.2020009810⟩ Article dans une revue hal-04974113v1
Une hypoplasie ponto-cérébelleuse causée par l’accumulation d’un inositol phosphate Ekin Ucuncu,Karthyayani Rajamani,Lydie Burglen,Nathalie Boddaert,Adolfo Saiardiet al. Médecine/Sciences, 2021, 37 (6-7), pp.572-574. ⟨10.1051/medsci/2021067⟩ Article dans une revue hal-03273128v1
MINPP1 prevents intracellular accumulation of the chelator inositol hexakisphosphate and is mutated in Pontocerebellar Hypoplasia Ekin Ucuncu,Karthyayani Rajamani,Miranda Wilson,Daniel Medina-Cano,Nami Altinet al. Nature Communications, 2020, 11 (1), pp.6087. ⟨10.1038/s41467-020-19919-y⟩ Article dans une revue hal-03151207v1
Opposite Modulation of RAC1 by Mutations in TRIO Is Associated with Distinct, Domain-Specific Neurodevelopmental Disorders Sónia Barbosa,Stephanie Greville-Heygate,Maxime Bonnet,Annie Godwin,Christine Fagotto-Kaufmannet al. American Journal of Human Genetics, 2020, 106 (3), pp.338-355. ⟨10.1016/j.ajhg.2020.01.018⟩ Article dans une revue hal-02997930v1
Biallelic mutations in neurofascin cause neurodevelopmental impairment and peripheral demyelination Stephanie Efthymiou,Vincenzo Salpietro,Nancy Malintan,Mallory Poncelet,Yamna Kriouileet al. Brain - A Journal of Neurology , 2019, 142 (10), pp.2948-2964. ⟨10.1093/brain/awz248⟩ Article dans une revue hal-02999849v1
High N-glycan multiplicity is critical for neuronal adhesion and sensitizes the developing cerebellum to N-glycosylation defect Daniel Medina-Cano,Ekin Ucuncu,Lam Nguyen,Michael Nicouleau,Joanna Lipeckaet al. eLife, 2018, 7, ⟨10.7554/eLife.38309⟩ Article dans une revue hal-02347168v1
De novo mutation screening in childhood-onset cerebellar atrophy identifies gain-of-function mutations in the CACNA1G calcium channel gene Jean Chemin,Karine Siquier-Pernet,Michael Nicouleau,Giulia Barcia,Ali Ahmadet al. Brain - A Journal of Neurology , 2018, 141 (7), pp.1998-2013. ⟨10.1093/brain/awy145⟩ Article dans une revue hal-02017665v1
Genotype-phenotype correlations in individuals with pathogenic RERE variants Valerie K Jordan,Brieana Fregeau,Xiaoyan Ge,Jessica Giordano,Ronald J Wapneret al. Human Mutation, 2018, 39 (5), ⟨10.1002/humu.23400⟩ Article dans une revue hal-04972116v1
High N-glycan multiplicity is critical for neuronal adhesion and sensitizes the developing cerebellum to N-glycosylation defect Daniel Medina-Cano,Ekin Ucuncu,Lam Son Nguyen,Michael Nicouleau,Joanna Lipeckaet al. eLife, 2018, 7, ⟨10.7554/elife.38309.001⟩ Article dans une revue hal-04974126v1
WDR81 mutations cause extreme microcephaly and impair mitotic progression in human fibroblasts and Drosophila neural stem cells. Mara Cavallin,Maria A Rujano,Nathalie Bednarek,Daniel Medina-Cano,Antoinette Bernabe Gelotet al. Brain - A Journal of Neurology , 2017, 140 (10), pp.2597-2609. ⟨10.1093/brain/awx218⟩ Article dans une revue hal-02620552v1
Utility of whole exome sequencing for the early diagnosis of pediatric-onset cerebellar atrophy associated with developmental delay in an inbred population Hisham Megahed,Michaël Nicouleau,Giulia Barcia,Daniel Medina-Cano,Karine Siquier-Pernetet al. Orphanet Journal of Rare Diseases, 2016, 11, ⟨10.1186/s13023-016-0436-9⟩ Article dans une revue hal-04974139v1
Disruption of POGZ Is Associated with Intellectual Disability and Autism Spectrum Disorders Holly a.F. Stessman,Marjolein h. Willemsen,Michael Fenckova,Osnat Penn,Alexander Hoischenet al. American Journal of Human Genetics, 2016, 98 (3), pp.541 - 552. ⟨10.1016/j.ajhg.2016.02.004⟩ Article dans une revue hal-01405534v1
Utility of whole exome sequencing for the early diagnosis of pediatric-onset cerebellar atrophy associated with developmental delay in an inbred population Hisham Megahed,Michaël Nicouleau,Giulia Barcia,Daniel Medina-Cano,Karine Siquier-Pernetet al. Orphanet Journal of Rare Diseases, 2015, 11 (1), pp.57. ⟨10.1186/s13023-016-0436-9⟩ Article dans une revue inserm-01322562v1
Biallelic mutations in SNX14 cause a syndromic form of cerebellar atrophy and lysosome-autophagosome dysfunction Naiara Akizu,Vincent Cantagrel,Maha S Zaki,Lihadh Al-Gazali,Xin Wanget al. Nature Genetics, 2015, 47, pp.528 - 534. ⟨10.1038/ng.3256⟩ Article dans une revue hal-04982561v1
CLP1 Founder Mutation Links tRNA Splicing and Maturation to Cerebellar Development and Neurodegeneration Ashleigh E Schaffer,Veerle R C Eggens,Ahmet Okay Caglayan,Miriam S Reuter,Eric Scottet al. Cell, 2014, 157 (3), ⟨10.1016/j.cell.2014.03.049⟩ Article dans une revue hal-04972118v1
Identification of a novel ARL13B variant in a Joubert syndrome-affected patient with retinal impairment and obesity. Sophie Thomas,Vincent Cantagrel,Laura Mariani,Valérie Serre,Ji-Eun Leeet al. European Journal of Human Genetics, 2014, epub ahead of print. ⟨10.1038/ejhg.2014.156⟩ Article dans une revue hal-01060629v1
Mutations in LAMB1 Cause Cobblestone Brain Malformation without Muscular or Ocular Abnormalities Farid Radmanesh,Ahmet Okay Caglayan,Jennifer L Silhavy,Cahide Yilmaz,Vincent Cantagrelet al. American Journal of Human Genetics, 2013, 92, pp.468 - 474. ⟨10.1016/j.ajhg.2013.02.005⟩ Article dans une revue hal-04982570v1
AMPD2 Regulates GTP Synthesis and Is Mutated in a Potentially Treatable Neurodegenerative Brainstem Disorder Naiara Akizu,Vincent Cantagrel,Jana Schroth,Na Cai,Keith Vauxet al. Cell, 2013, 154, pp.505 - 517. ⟨10.1016/j.cell.2013.07.005⟩ Article dans une revue hal-04974147v1
From glycosylation disorders to dolichol biosynthesis defects: a new class of metabolic diseases Vincent Cantagrel,Dirk J Lefeber Journal of Inherited Metabolic Disease, 2011, 34, pp.859 - 867. ⟨10.1007/s10545-011-9301-0⟩ Article dans une revue hal-04982589v1
SRD5A3 Is Required for Converting Polyprenol to Dolichol and Is Mutated in a Congenital Glycosylation Disorder Vincent Cantagrel,Dirk J Lefeber,Bobby G Ng,Ziqiang Guan,Jennifer L Silhavyet al. Cell, 2010, 142, pp.203 - 217. ⟨10.1016/j.cell.2010.06.001⟩ Article dans une revue hal-04982593v1
Mutations in the Cilia Gene ARL13B Lead to the Classical Form of Joubert Syndrome Vincent Cantagrel,Jennifer L Silhavy,Stephanie L Bielas,Dominika Swistun,Sarah E Marshet al. American Journal of Human Genetics, 2008, 83, pp.170 - 179. ⟨10.1016/j.ajhg.2008.06.023⟩ Article dans une revue hal-04982599v1

Pré-publication, Document de travail (1)

Electrophysiological classification of CACNA1G gene variants associated with neurodevelopmental and neurological disorders Amaël Davakan,Leos Cmarko,Barbara Ribeiro Oliveira-Mendes,Claire Bernat,Najlae Boulaliet al. 2025 Pré-publication, Document de travail hal-05348664v1