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The Immune Signaling Adaptor LAT Contributes to the Neuroanatomical Phenotype of 16p11.2 BP2-BP3 CNVs.
Loviglio MN, Arbogast T, Jønch AE, Collins SC, Popadin K, Bonnet CS, Giannuzzi G, Maillard AM, Jacquemont S; 16p11.2 Consortium; Yalcin B, Katsanis N, Golzio C, Reymond A. Loviglio MN, et al. Among authors: yalcin b. Am J Hum Genet. 2017 Oct 5;101(4):564-577. doi: 10.1016/j.ajhg.2017.08.016. Epub 2017 Sep 28. Am J Hum Genet. 2017. PMID: 28965845 Free PMC article.
Identification of structural variation in mouse genomes.
Keane TM, Wong K, Adams DJ, Flint J, Reymond A, Yalcin B. Keane TM, et al. Among authors: yalcin b. Front Genet. 2014 Jul 2;5:192. doi: 10.3389/fgene.2014.00192. eCollection 2014. Front Genet. 2014. PMID: 25071822 Free PMC article. Review.
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.
Sixteen diverse laboratory mouse reference genomes define strain-specific haplotypes and novel functional loci.
Lilue J, Doran AG, Fiddes IT, Abrudan M, Armstrong J, Bennett R, Chow W, Collins J, Collins S, Czechanski A, Danecek P, Diekhans M, Dolle DD, Dunn M, Durbin R, Earl D, Ferguson-Smith A, Flicek P, Flint J, Frankish A, Fu B, Gerstein M, Gilbert J, Goodstadt L, Harrow J, Howe K, Ibarra-Soria X, Kolmogorov M, Lelliott CJ, Logan DW, Loveland J, Mathews CE, Mott R, Muir P, Nachtweide S, Navarro FCP, Odom DT, Park N, Pelan S, Pham SK, Quail M, Reinholdt L, Romoth L, Shirley L, Sisu C, Sjoberg-Herrera M, Stanke M, Steward C, Thomas M, Threadgold G, Thybert D, Torrance J, Wong K, Wood J, Yalcin B, Yang F, Adams DJ, Paten B, Keane TM. Lilue J, et al. Among authors: yalcin b. Nat Genet. 2018 Nov;50(11):1574-1583. doi: 10.1038/s41588-018-0223-8. Epub 2018 Oct 1. Nat Genet. 2018. PMID: 30275530 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.
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.
Conditional switching of KIF2A mutation provides new insights into cortical malformation pathogeny.
Gilet JG, Ivanova EL, Trofimova D, Rudolf G, Meziane H, Broix L, Drouot N, Courraud J, Skory V, Voulleminot P, Osipenko M, Bahi-Buisson N, Yalcin B, Birling MC, Hinckelmann MV, Kwok BH, Allingham JS, Chelly J. Gilet JG, et al. Among authors: yalcin b. Hum Mol Genet. 2020 Mar 27;29(5):766-784. doi: 10.1093/hmg/ddz316. Hum Mol Genet. 2020. PMID: 31919497 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: yalcin b. Epilepsia. 2020 May;61(5):868-878. doi: 10.1111/epi.16494. Epub 2020 Apr 2. Epilepsia. 2020. PMID: 32239694 Free PMC article.
577 results