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WD40-repeat 47, a microtubule-associated protein, is essential for brain development and autophagy.
Kannan M, Bayam E, Wagner C, Rinaldi B, Kretz PF, Tilly P, Roos M, McGillewie L, Bär S, Minocha S, Chevalier C, Po C; Sanger Mouse Genetics Project; Chelly J, Mandel JL, Borgatti R, Piton A, Kinnear C, Loos B, Adams DJ, Hérault Y, Collins SC, Friant S, Godin JD, Yalcin B. Kannan M, et al. Among authors: wagner c. Proc Natl Acad Sci U S A. 2017 Oct 31;114(44):E9308-E9317. doi: 10.1073/pnas.1713625114. Epub 2017 Oct 12. Proc Natl Acad Sci U S A. 2017. PMID: 29078390 Free PMC article.
Histomorphological Phenotyping of the Adult Mouse Brain.
Mikhaleva A, Kannan M, Wagner C, Yalcin B. Mikhaleva A, et al. Among authors: wagner c. Curr Protoc Mouse Biol. 2016 Sep 1;6(3):307-332. doi: 10.1002/cpmo.12. Curr Protoc Mouse Biol. 2016. PMID: 27584555
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis.
Collins SC, Mikhaleva A, Vrcelj K, Vancollie VE, Wagner C, Demeure N, Whitley H, Kannan M, Balz R, Anthony LFE, Edwards A, Moine H, White JK, Adams DJ, Reymond A, Lelliott CJ, Webber C, Yalcin B. Collins SC, et al. Among authors: wagner c. Nat Commun. 2019 Aug 1;10(1):3465. doi: 10.1038/s41467-019-11431-2. Nat Commun. 2019. PMID: 31371714 Free PMC article.
A knock-in mouse model for KCNQ2-related epileptic encephalopathy displays spontaneous generalized seizures and cognitive impairment.
Milh M, Roubertoux P, Biba N, Chavany J, Spiga Ghata A, Fulachier C, Collins SC, Wagner C, Roux JC, Yalcin B, Félix MS, Molinari F, Lenck-Santini PP, Villard L. Milh M, et al. Among authors: wagner c. Epilepsia. 2020 May;61(5):868-878. doi: 10.1111/epi.16494. Epub 2020 Apr 2. Epilepsia. 2020. PMID: 32239694 Free PMC article.
Haploinsufficiency of the HIRA gene located in the 22q11 deletion syndrome region is associated with abnormal neurodevelopment and impaired dendritic outgrowth.
Jeanne M, Vuillaume ML, Ung DC, Vancollie VE, Wagner C, Collins SC, Vonwill S, Haye D, Chelloug N, Pfundt R, Kummeling J, Moizard MP, Marouillat S, Kleefstra T, Yalcin B, Laumonnier F, Toutain A. Jeanne M, et al. Among authors: wagner c. Hum Genet. 2021 Jun;140(6):885-896. doi: 10.1007/s00439-020-02252-1. Epub 2021 Jan 8. Hum Genet. 2021. PMID: 33417013 Free article.
YWHAE loss of function causes a rare neurodevelopmental disease with brain abnormalities in human and mouse.
Denommé-Pichon AS, Collins SC, Bruel AL, Mikhaleva A, Wagner C, Vancollie VE, Thomas Q, Chevarin M, Weber M, Prada CE, Overs A, Palomares-Bralo M, Santos-Simarro F, Pacio-Míguez M, Busa T, Legius E, Bacino CA, Rosenfeld JA, Le Guyader G, Egloff M, Le Guillou X, Mencarelli MA, Renieri A, Grosso S, Levy J, Dozières B, Desguerre I, Vitobello A, Duffourd Y, Lelliott CJ, Thauvin-Robinet C, Philippe C, Faivre L, Yalcin B. Denommé-Pichon AS, et al. Among authors: wagner c. Genet Med. 2023 Jul;25(7):100835. doi: 10.1016/j.gim.2023.100835. Epub 2023 Mar 28. Genet Med. 2023. PMID: 36999555 Free article. Review.
Dissecting the autism-associated 16p11.2 locus identifies multiple drivers in neuroanatomical phenotypes and unveils a male-specific role for the major vault protein.
Kretz PF, Wagner C, Mikhaleva A, Montillot C, Hugel S, Morella I, Kannan M, Fischer MC, Milhau M, Yalcin I, Brambilla R, Selloum M, Herault Y, Reymond A, Collins SC, Yalcin B. Kretz PF, et al. Among authors: wagner c. Genome Biol. 2023 Nov 15;24(1):261. doi: 10.1186/s13059-023-03092-8. Genome Biol. 2023. PMID: 37968726 Free PMC article.
3,143 results