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Page 1
Bi-allelic variants in WDR47 cause a complex neurodevelopmental syndrome.
Bayam E, Tilly P, Collins SC, Rivera Alvarez J, Kannan M, Tonneau L, Brivio E, Rinaldi B, Lecat R, Schwaller N, Cotellessa L, Maddirevula S, Monteiro F, Guardia CM, Kitajima JP, Kok F, Kato M, Hamed AAA, Salih MA, Al Tala S, Hashem MO, Tada H, Saitsu H, Stabile M, Giacobini P, Friant S, Yüksel Z, Nakashima M, Alkuraya FS, Yalcin B, Godin JD. Bayam E, et al. Among authors: yalcin b. EMBO Mol Med. 2024 Nov 28. doi: 10.1038/s44321-024-00178-z. Online ahead of print. EMBO Mol Med. 2024. PMID: 39609633 Free article.
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: yalcin b. 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.
TUBG1 missense variants underlying cortical malformations disrupt neuronal locomotion and microtubule dynamics but not neurogenesis.
Ivanova EL, Gilet JG, Sulimenko V, Duchon A, Rudolf G, Runge K, Collins SC, Asselin L, Broix L, Drouot N, Tilly P, Nusbaum P, Vincent A, Magnant W, Skory V, Birling MC, Pavlovic G, Godin JD, Yalcin B, Hérault Y, Dráber P, Chelly J, Hinckelmann MV. Ivanova EL, et al. Among authors: yalcin b. Nat Commun. 2019 May 13;10(1):2129. doi: 10.1038/s41467-019-10081-8. Nat Commun. 2019. PMID: 31086189 Free PMC article.
Histomorphological Phenotyping of the Adult Mouse Brain.
Mikhaleva A, Kannan M, Wagner C, Yalcin B. Mikhaleva A, et al. Among authors: yalcin b. Curr Protoc Mouse Biol. 2016 Sep 1;6(3):307-332. doi: 10.1002/cpmo.12. Curr Protoc Mouse Biol. 2016. PMID: 27584555
The neuroanatomy of Eml1 knockout mice, a model of subcortical heterotopia.
Collins SC, Uzquiano A, Selloum M, Wendling O, Gaborit M, Osipenko M, Birling MC, Yalcin B, Francis F. Collins SC, et al. Among authors: yalcin b. J Anat. 2019 Sep;235(3):637-650. doi: 10.1111/joa.13013. Epub 2019 Jun 7. J Anat. 2019. PMID: 31173351 Free PMC article.
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: yalcin b. Nat Commun. 2019 Aug 1;10(1):3465. doi: 10.1038/s41467-019-11431-2. Nat Commun. 2019. PMID: 31371714 Free PMC article.
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: yalcin i, yalcin b. Genome Biol. 2023 Nov 15;24(1):261. doi: 10.1186/s13059-023-03092-8. Genome Biol. 2023. PMID: 37968726 Free PMC article.
606 results