Vincent Cantagrel

95 %
Libre accès
39
Documents
Affiliations actuelles
  • Université Paris Cité (UPCité)
  • Imagine - Institut des maladies génétiques (IHU) (Imagine - U1163)
  • Génétique des Troubles du Neurodéveloppement = Developmental Brain Disorders Laboratory (Equipe Inserm U1163)
Contact

Domaines de recherche

Génétique Génétique humaine Neurosciences [q-bio.NC]

Compétences

Biologie moléculaire

Publications

Publications

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 Chatron et al.

Journal of Medical Genetics, 2026, 63 (1), pp.10-14. ⟨10.1136/jmg-2025-110631⟩

Article dans une revue hal-05525627v1
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Electrophysiological classification of CACNA1G gene variants associated with neurodevelopmental and neurological disorders

Amaël Davakan , Leos Cmarko , Barbara Ribeiro Oliveira-Mendes , Claire Bernat , Najlae Boulali et al.

Frontiers in Pharmacology, 2025, 16, pp.1613072. ⟨10.3389/fphar.2025.1613072⟩

Article dans une revue hal-05326387v1
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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-Pernet et al.

Genetics in Medicine, 2025, 27 (3), pp.101337. ⟨10.1016/j.gim.2024.101337⟩

Article dans une revue hal-04846047v1
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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 Malan et 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 Cerrato et 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 Rio et al.

Molecular Autism, 2025, 16, ⟨10.1186/s13229-025-00642-8⟩

Article dans une revue hal-04973862v1

De novo variants in DENND5B cause a neurodevelopmental disorder

Marcello Scala , Valeria Tomati , Matteo Ferla , Mariateresa Lena , Julie S Cohen et al.

American Journal of Human Genetics, 2024, 111, pp.529 - 543. ⟨10.1016/j.ajhg.2024.02.001⟩

Article dans une revue hal-04982455v1

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
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A pseudoautosomal glycosylation disorder prompts the revision of dolichol biosynthesis

Matthew P. Wilson , Takfarinas Kentache , Charlotte Althoff , Celine Schulz , Geoffroy de Bettignies et al.

Cell, 2024, Cell, 187 (14), Online ahead of print. ⟨10.1016/j.cell.2024.04.041⟩

Article dans une revue hal-04632574v1

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 Blanc et al.

BMC Medical Genomics, 2023, 16, ⟨10.1186/s12920-023-01582-z⟩

Article dans une revue hal-04974089v1
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Suleiman-El-Hattab syndrome: a histone modification disorder caused by TASP1 deficiency

Korbinian M Riedhammer , Anna L Burgemeister , Jeanne Amiel , Vincent Cantagrel , Karine Siquier-Pernet et al.

Human Molecular Genetics, 2022, 31 (18), pp.3083 - 3094. ⟨10.1093/hmg/ddac098⟩

Article dans une revue hal-03853581v1
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Biallelic loss of EMC10 leads to mild to severe intellectual disability

Rauan Kaiyrzhanov , Clarissa Rocca , Mohnish Suri , Sughra Gulieva , Maha S Zaki et 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-Pernet et 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 Bourgon et al.

Prenatal Diagnosis, 2022, 42 (1), pp.118-135. ⟨10.1002/pd.6074⟩

Article dans une revue hal-03481652v1
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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-Pernet et 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 Ollivier et al.

European Journal of Human Genetics, 2022, 30, pp.712 - 720. ⟨10.1038/s41431-022-01094-x⟩

Article dans une revue hal-04982469v1
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Loss of function mutations in GEMIN5 cause a neurodevelopmental disorder

Sukhleen Kour , Deepa S Rajan , Tyler R Fortuna , Eric N Anderson , Caroline Ward et al.

Nature Communications, 2021, 12 (1), ⟨10.1038/s41467-021-22627-w⟩

Article dans une revue hal-04972113v1
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Inherited glycosylphosphatidylinositol defects cause the rare Emm-negative blood phenotype and developmental disorders

Romain Duval , Gaël Nicolas , Alexandra Willemetz , Yoshiko Murakami , Mahmoud Mikdar et al. Article dans une revue hal-04974113v1
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Une hypoplasie ponto-cérébelleuse causée par l’accumulation d’un inositol phosphate

Ekin Ucuncu , Karthyayani Rajamani , Lydie Burglen , Nathalie Boddaert , Adolfo Saiardi et al.

Médecine/Sciences, 2021, 37 (6-7), pp.572-574. ⟨10.1051/medsci/2021067⟩

Article dans une revue hal-03273128v1
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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 Altin et al.

Nature Communications, 2020, 11 (1), pp.6087. ⟨10.1038/s41467-020-19919-y⟩

Article dans une revue hal-03151207v1
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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-Kaufmann et 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
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Biallelic mutations in neurofascin cause neurodevelopmental impairment and peripheral demyelination

Stephanie Efthymiou , Vincenzo Salpietro , Nancy Malintan , Mallory Poncelet , Yamna Kriouile et al.

Brain - A Journal of Neurology , 2019, 142 (10), pp.2948-2964. ⟨10.1093/brain/awz248⟩

Article dans une revue hal-02999849v1

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 Ahmad et al.

Brain - A Journal of Neurology , 2018, 141 (7), pp.1998-2013. ⟨10.1093/brain/awy145⟩

Article dans une revue hal-02017665v1
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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 Lipecka et al.

eLife, 2018, 7, ⟨10.7554/eLife.38309⟩

Article dans une revue hal-02347168v1
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Genotype-phenotype correlations in individuals with pathogenic RERE variants

Valerie K Jordan , Brieana Fregeau , Xiaoyan Ge , Jessica Giordano , Ronald J Wapner et 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 Lipecka et al. 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 Gelot et al.

Brain - A Journal of Neurology , 2017, 140 (10), pp.2597-2609. ⟨10.1093/brain/awx218⟩

Article dans une revue hal-02620552v1

Disruption of POGZ Is Associated with Intellectual Disability and Autism Spectrum Disorders

Holly a.F. Stessman , Marjolein h. Willemsen , Michael Fenckova , Osnat Penn , Alexander Hoischen et 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-Pernet et al.

Orphanet Journal of Rare Diseases, 2016, 11, ⟨10.1186/s13023-016-0436-9⟩

Article dans une revue hal-04974139v1
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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 Wang et al.

Nature Genetics, 2015, 47, pp.528 - 534. ⟨10.1038/ng.3256⟩

Article dans une revue hal-04982561v1
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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

Hisham Megahed , Michaël Nicouleau , Giulia Barcia , Daniel Medina-Cano , Karine Siquier-Pernet et al.

Orphanet Journal of Rare Diseases, 2015, 11 (1), pp.57. ⟨10.1186/s13023-016-0436-9⟩

Article dans une revue inserm-01322562v1
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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 Scott et 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 Lee et 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 Cantagrel et 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 Vaux et al.

Cell, 2013, 154, pp.505 - 517. ⟨10.1016/j.cell.2013.07.005⟩

Article dans une revue hal-04974147v1
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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
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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 Silhavy et al.

Cell, 2010, 142, pp.203 - 217. ⟨10.1016/j.cell.2010.06.001⟩

Article dans une revue hal-04982593v1
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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 Marsh et al.

American Journal of Human Genetics, 2008, 83, pp.170 - 179. ⟨10.1016/j.ajhg.2008.06.023⟩

Article dans une revue hal-04982599v1