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Vincent Cantagrel - Publications

Affiliations: 
2012 INSERM - France 
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35 high-probability publications. We are testing a new system for linking publications to authors. You can help! If you notice any inaccuracies, please sign in and mark papers as correct or incorrect matches. If you identify any major omissions or other inaccuracies in the publication list, please let us know.

Year Citation  Score
2024 Crespin M, Siquier-Pernet K, Marzin P, Bole-Feysot C, Malan V, Nitschké P, Hully M, Roux CJ, Lemoine M, Rio M, Boddaert N, Courtin T, Cantagrel V. LSM7 variants involving key amino acids for LSM complex function cause a neurodevelopmental disorder with leukodystrophy and cerebellar atrophy. Hgg Advances. 6: 100372. PMID 39420558 DOI: 10.1016/j.xhgg.2024.100372  0.371
2024 Wilson MP, Kentache T, Althoff CR, Schulz C, de Bettignies G, Mateu Cabrera G, Cimbalistiene L, Burnyte B, Yoon G, Costain G, Vuillaumier-Barrot S, Cheillan D, Rymen D, Rychtarova L, Hansikova H, ... ... Cantagrel V, et al. A pseudoautosomal glycosylation disorder prompts the revision of dolichol biosynthesis. Cell. PMID 38821050 DOI: 10.1016/j.cell.2024.04.041  0.309
2024 Scala M, Tomati V, Ferla M, Lena M, Cohen JS, Fatemi A, Brokamp E, Bican A, Phillips JA, Koziura ME, Nicouleau M, Rio M, Siquier K, Boddaert N, Musante I, ... ... Cantagrel V, et al. De novo variants in DENND5B cause a neurodevelopmental disorder. American Journal of Human Genetics. PMID 38387458 DOI: 10.1016/j.ajhg.2024.02.001  0.368
2022 Kaiyrzhanov R, Rocca C, Suri M, Gulieva S, Zaki MS, Henig NZ, Siquier K, Guliyeva U, Mounir SM, Marom D, Allahverdiyeva A, Megahed H, van Bokhoven H, Cantagrel V, Rad A, et al. Biallelic loss of EMC10 leads to mild to severe intellectual disability. Annals of Clinical and Translational Neurology. PMID 35684946 DOI: 10.1002/acn3.51602  0.328
2022 Riedhammer KM, Burgemeister AL, Cantagrel V, Amiel J, Siquier K, Boddaert N, Hertecant J, Kannouche PL, Pouvelle C, Htun S, Slavotinek AM, Beetz C, Diego-Alvarez D, Kampe K, Fleischer N, et al. Suleiman-El-Hattab syndrome: a histone modification disorder caused by TASP1 deficiency. Human Molecular Genetics. PMID 35512351 DOI: 10.1093/hmg/ddac098  0.31
2022 Coolen M, Altin N, Rajamani K, Pereira E, Siquier-Pernet K, Puig Lombardi E, Moreno N, Barcia G, Yvert M, Laquerrière A, Pouliet A, Nitschké P, Boddaert N, Rausell A, Razavi F, ... ... Cantagrel V, et al. Recessive PRDM13 mutations cause fatal perinatal brainstem dysfunction with cerebellar hypoplasia and disrupt Purkinje cells differentiation. American Journal of Human Genetics. PMID 35390279 DOI: 10.1016/j.ajhg.2022.03.010  0.488
2021 Lesieur-Sebellin M, Till M, Khau Van Kien P, Herve B, Bourgon N, Dupont C, Tabet AC, Barrois M, Coussement A, Loeuillet L, Mousty E, Ea V, El Assal A, Mary L, Jaillard S, ... ... Cantagrel V, et al. Terminal 6q deletions cause brain malformations, a phenotype mimicking heterozygous DLL1 pathogenic variants: A multicenter retrospective case series. Prenatal Diagnosis. PMID 34894355 DOI: 10.1002/pd.6074  0.37
2021 Kour S, Rajan DS, Fortuna TR, Anderson EN, Ward C, Lee Y, Lee S, Shin YB, Chae JH, Choi M, Siquier K, Cantagrel V, Amiel J, Stolerman ES, Barnett SS, et al. Loss of function mutations in GEMIN5 cause a neurodevelopmental disorder. Nature Communications. 12: 2558. PMID 33963192 DOI: 10.1038/s41467-021-22627-w  0.747
2021 Duval R, Nicolas G, Willemetz A, Murakami Y, Mikdar M, Vrignaud C, Megahed H, Cartron JP, Masson C, Wehbi S, Koehl B, Hully M, Siquier K, Chemaly N, Rotig A, ... ... Cantagrel V, et al. Inherited glycosylphosphatidylinositol defects cause the rare Emm-negative blood phenotype and developmental disorders. Blood. PMID 33763700 DOI: 10.1182/blood.2020009810  0.378
2020 Ucuncu E, Rajamani K, Wilson MSC, Medina-Cano D, Altin N, David P, Barcia G, Lefort N, Banal C, Vasilache-Dangles MT, Pitelet G, Lorino E, Rabasse N, Bieth E, Zaki MS, ... ... Cantagrel V, et al. MINPP1 prevents intracellular accumulation of the chelator inositol hexakisphosphate and is mutated in Pontocerebellar Hypoplasia. Nature Communications. 11: 6087. PMID 33257696 DOI: 10.1038/s41467-020-19919-y  0.607
2020 Barbosa S, Greville-Heygate S, Bonnet M, Godwin A, Fagotto-Kaufmann C, Kajava AV, Laouteouet D, Mawby R, Wai HA, Dingemans AJM, Hehir-Kwa J, Willems M, Capri Y, Mehta SG, Cox H, ... ... Cantagrel V, et al. Opposite Modulation of RAC1 by Mutations in TRIO Is Associated with Distinct, Domain-Specific Neurodevelopmental Disorders. American Journal of Human Genetics. PMID 32109419 DOI: 10.1016/J.Ajhg.2020.01.018  0.517
2019 Efthymiou S, Salpietro V, Malintan N, Poncelet M, Kriouile Y, Fortuna S, De Zorzi R, Payne K, Henderson LB, Cortese A, Maddirevula S, Alhashmi N, Wiethoff S, Ryten M, Botia JA, ... ... Cantagrel V, et al. Biallelic mutations in neurofascin cause neurodevelopmental impairment and peripheral demyelination. Brain : a Journal of Neurology. PMID 31501903 DOI: 10.1093/Brain/Awz248  0.449
2018 Medina-Cano D, Ucuncu E, Nguyen LS, Nicouleau M, Lipecka J, Bizot JC, Thiel C, Foulquier F, Lefort N, Faivre-Sarrailh C, Colleaux L, Guerrera IC, Cantagrel V. High N-glycan multiplicity is critical for neuronal adhesion and sensitizes the developing cerebellum to N-glycosylation defect. Elife. 7. PMID 30311906 DOI: 10.7554/Elife.38309  0.408
2018 Chemin J, Siquier-Pernet K, Nicouleau M, Barcia G, Ahmad A, Medina-Cano D, Hanein S, Altin N, Hubert L, Bole-Feysot C, Fourage C, Nitschké P, Thevenon J, Rio M, Blanc P, ... ... Cantagrel V, et al. De novo mutation screening in childhood-onset cerebellar atrophy identifies gain-of-function mutations in the CACNA1G calcium channel gene. Brain : a Journal of Neurology. PMID 29878067 DOI: 10.1093/Brain/Awy145  0.58
2018 Jordan VK, Fregeau B, Ge X, Giordano J, Wapner RJ, Balci TB, Carter MT, Bernat JA, Moccia AN, Srivastava A, Martin DM, Bielas SL, Pappas J, Svoboda MD, Rio M, ... ... Cantagrel V, et al. Genotype-phenotype correlations in individuals with pathogenic RERE variants. Human Mutation. PMID 29330883 DOI: 10.1002/Humu.23400  0.709
2018 Medina-Cano D, Ucuncu E, Nguyen LS, Nicouleau M, Lipecka J, Bizot J, Thiel C, Foulquier F, Lefort N, Faivre-Sarrailh C, Colleaux L, Guerrera IC, Cantagrel V. Author response: High N-glycan multiplicity is critical for neuronal adhesion and sensitizes the developing cerebellum to N-glycosylation defect Elife. DOI: 10.7554/Elife.38309.027  0.313
2017 Cavallin M, Rujano MA, Bednarek N, Medina-Cano D, Bernabe Gelot A, Drunat S, Maillard C, Garfa-Traore M, Bole C, Nitschké P, Beneteau C, Besnard T, Cogné B, Eveillard M, Kuster A, ... ... Cantagrel V, et al. WDR81 mutations cause extreme microcephaly and impair mitotic progression in human fibroblasts and Drosophila neural stem cells. Brain : a Journal of Neurology. 140: 2597-2609. PMID 28969387 DOI: 10.1093/Brain/Awx218  0.565
2016 Megahed H, Nicouleau M, Barcia G, Medina-Cano D, Siquier-Pernet K, Bole-Feysot C, Parisot M, Masson C, Nitschké P, Rio M, Bahi-Buisson N, Desguerre I, Munnich A, Boddaert N, Colleaux L, ... Cantagrel V, et al. Utility of whole exome sequencing for the early diagnosis of pediatric-onset cerebellar atrophy associated with developmental delay in an inbred population. Orphanet Journal of Rare Diseases. 11: 57. PMID 27146152 DOI: 10.1186/S13023-016-0436-9  0.384
2016 Stessman HA, Willemsen MH, Fenckova M, Penn O, Hoischen A, Xiong B, Wang T, Hoekzema K, Vives L, Vogel I, Brunner HG, van der Burgt I, Ockeloen CW, Schuurs-Hoeijmakers JH, Klein Wassink-Ruiter JS, ... ... Cantagrel V, et al. Disruption of POGZ Is Associated with Intellectual Disability and Autism Spectrum Disorders. American Journal of Human Genetics. 98: 541-552. PMID 26942287 DOI: 10.1016/J.Ajhg.2016.02.004  0.542
2016 Cavallin M, Hubert L, Cantagrel V, Munnich A, Boddaert N, Vincent-Delorme C, Cuvellier JC, Masson C, Besmond C, Bahi-Buisson N. Recurrent KIF5C mutation leading to frontal pachygyria without microcephaly. Neurogenetics. 17: 79-82. PMID 26384676 DOI: 10.1007/S10048-015-0459-8  0.504
2015 Akizu N, Cantagrel V, Zaki MS, Al-Gazali L, Wang X, Rosti RO, Dikoglu E, Gelot AB, Rosti B, Vaux KK, Scott EM, Silhavy JL, Schroth J, Copeland B, Schaffer AE, et al. Biallelic mutations in SNX14 cause a syndromic form of cerebellar atrophy and lysosome-autophagosome dysfunction. Nature Genetics. 47: 528-34. PMID 25848753 DOI: 10.1038/Ng.3256  0.711
2015 Thomas S, Cantagrel V, Mariani L, Serre V, Lee JE, Elkhartoufi N, de Lonlay P, Desguerre I, Munnich A, Boddaert N, Lyonnet S, Vekemans M, Lisgo SN, Caspary T, Gleeson J, et al. Identification of a novel ARL13B variant in a Joubert syndrome-affected patient with retinal impairment and obesity. European Journal of Human Genetics : Ejhg. 23: 621-7. PMID 25138100 DOI: 10.1038/Ejhg.2014.156  0.608
2014 Schaffer AE, Eggens VR, Caglayan AO, Reuter MS, Scott E, Coufal NG, Silhavy JL, Xue Y, Kayserili H, Yasuno K, Rosti RO, Abdellateef M, Caglar C, Kasher PR, Cazemier JL, ... ... Cantagrel V, et al. CLP1 founder mutation links tRNA splicing and maturation to cerebellar development and neurodegeneration. Cell. 157: 651-63. PMID 24766810 DOI: 10.1016/J.Cell.2014.03.049  0.749
2013 Akizu N, Cantagrel V, Schroth J, Cai N, Vaux K, McCloskey D, Naviaux RK, Van Vleet J, Fenstermaker AG, Silhavy JL, Scheliga JS, Toyama K, Morisaki H, Sonmez FM, Celep F, et al. AMPD2 regulates GTP synthesis and is mutated in a potentially treatable neurodegenerative brainstem disorder. Cell. 154: 505-17. PMID 23911318 DOI: 10.1016/J.Cell.2013.07.005  0.74
2013 Radmanesh F, Caglayan AO, Silhavy JL, Yilmaz C, Cantagrel V, Omar T, Rosti B, Kaymakcalan H, Gabriel S, Li M, Sestan N, Bilguvar K, Dobyns WB, Zaki MS, Gunel M, et al. Mutations in LAMB1 cause cobblestone brain malformation without muscular or ocular abnormalities. American Journal of Human Genetics. 92: 468-74. PMID 23472759 DOI: 10.1016/J.Ajhg.2013.02.005  0.622
2012 Ng BG, Hackmann K, Jones MA, Eroshkin AM, He P, Wiliams R, Bhide S, Cantagrel V, Gleeson JG, Paller AS, Schnur RE, Tinschert S, Zunich J, Hegde MR, Freeze HH. Mutations in the glycosylphosphatidylinositol gene PIGL cause CHIME syndrome. American Journal of Human Genetics. 90: 685-8. PMID 22444671 DOI: 10.1016/J.Ajhg.2012.02.010  0.646
2011 Baasanjav S, Al-Gazali L, Hashiguchi T, Mizumoto S, Fischer B, Horn D, Seelow D, Ali BR, Aziz SA, Langer R, Saleh AA, Becker C, Nürnberg G, Cantagrel V, Gleeson JG, et al. Faulty initiation of proteoglycan synthesis causes cardiac and joint defects. American Journal of Human Genetics. 89: 15-27. PMID 21763480 DOI: 10.1016/J.Ajhg.2011.05.021  0.577
2011 Mohamed M, Cantagrel V, Al-Gazali L, Wevers RA, Lefeber DJ, Morava E. Normal glycosylation screening does not rule out SRD5A3-CDG European Journal of Human Genetics. 19: 1019. PMID 21750573 DOI: 10.1038/Ejhg.2010.260  0.425
2011 Cantagrel V, Lefeber DJ. From glycosylation disorders to dolichol biosynthesis defects: a new class of metabolic diseases. Journal of Inherited Metabolic Disease. 34: 859-67. PMID 21384228 DOI: 10.1007/S10545-011-9301-0  0.406
2010 Morava E, Wevers RA, Cantagrel V, Hoefsloot LH, Al-Gazali L, Schoots J, van Rooij A, Huijben K, van Ravenswaaij-Arts CM, Jongmans MC, Sykut-Cegielska J, Hoffmann GF, Bluemel P, Adamowicz M, van Reeuwijk J, et al. A novel cerebello-ocular syndrome with abnormal glycosylation due to abnormalities in dolichol metabolism. Brain : a Journal of Neurology. 133: 3210-20. PMID 20852264 DOI: 10.1093/Brain/Awq261  0.654
2010 Cantagrel V, Lefeber DJ, Ng BG, Guan Z, Silhavy JL, Bielas SL, Lehle L, Hombauer H, Adamowicz M, Swiezewska E, De Brouwer AP, Blümel P, Sykut-Cegielska J, Houliston S, Swistun D, et al. SRD5A3 is required for converting polyprenol to dolichol and is mutated in a congenital glycosylation disorder. Cell. 142: 203-17. PMID 20637498 DOI: 10.1016/J.Cell.2010.06.001  0.728
2009 Cantagrel V, Haddad MR, Ciofi P, Andrieu D, Lossi AM, Maldergem Lv, Roux JC, Villard L. Spatiotemporal expression in mouse brain of Kiaa2022, a gene disrupted in two patients with severe mental retardation. Gene Expression Patterns : Gep. 9: 423-9. PMID 19524067 DOI: 10.1016/J.Gep.2009.06.001  0.355
2008 Cantagrel V, Silhavy JL, Bielas SL, Swistun D, Marsh SE, Bertrand JY, Audollent S, Attié-Bitach T, Holden KR, Dobyns WB, Traver D, Al-Gazali L, Ali BR, Lindner TH, Caspary T, et al. Mutations in the cilia gene ARL13B lead to the classical form of Joubert syndrome. American Journal of Human Genetics. 83: 170-9. PMID 18674751 DOI: 10.1016/J.Ajhg.2008.06.023  0.756
2007 Cantagrel V, Lossi AM, Lisgo S, Missirian C, Borges A, Philip N, Fernandez C, Cardoso C, Figarella-Branger D, Moncla A, Lindsay S, Dobyns WB, Villard L. Truncation of NHEJ1 in a patient with polymicrogyria. Human Mutation. 28: 356-64. PMID 17191205 DOI: 10.1002/Humu.20450  0.412
2004 Cantagrel V, Lossi AM, Boulanger S, Depetris D, Mattei MG, Gecz J, Schwartz CE, Van Maldergem L, Villard L. Disruption of a new X linked gene highly expressed in brain in a family with two mentally retarded males. Journal of Medical Genetics. 41: 736-42. PMID 15466006 DOI: 10.1136/Jmg.2004.021626  0.388
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