Vincent Cantagrel

96%
Libre accès
27
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

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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-04846047 v1

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-05137479 v1
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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-04974071 v1

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-04973862 v1

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-05137484 v1

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-04974089 v1
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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-03853581 v1
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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-04972115 v1

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-03852536 v1

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-03481652 v1
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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-03654319 v1

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-04982469 v1
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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-04972113 v1
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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-03273128 v1
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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-03151207 v1
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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-02997930 v1
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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-02999849 v1
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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.
Article dans une revue hal-02347168 v1

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-02017665 v1
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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-04972116 v1

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-04974126 v1

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-02620552 v1

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-04974139 v1

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-01405534 v1
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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-01322562 v1
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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.
Article dans une revue hal-04972118 v1

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-01060629 v1