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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: yalcin b. 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.
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 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.
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.
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.
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.
Trappc9 deficiency causes parent-of-origin dependent microcephaly and obesity.
Liang ZS, Cimino I, Yalcin B, Raghupathy N, Vancollie VE, Ibarra-Soria X, Firth HV, Rimmington D, Farooqi IS, Lelliott CJ, Munger SC, O'Rahilly S, Ferguson-Smith AC, Coll AP, Logan DW. Liang ZS, et al. Among authors: yalcin b. PLoS Genet. 2020 Sep 2;16(9):e1008916. doi: 10.1371/journal.pgen.1008916. eCollection 2020 Sep. PLoS Genet. 2020. PMID: 32877400 Free PMC article.
Heterozygous Variants in KDM4B Lead to Global Developmental Delay and Neuroanatomical Defects.
Duncan AR, Vitobello A, Collins SC, Vancollie VE, Lelliott CJ, Rodan L, Shi J, Seman AR, Agolini E, Novelli A, Prontera P, Guillen Sacoto MJ, Santiago-Sim T, Trimouille A, Goizet C, Nizon M, Bruel AL, Philippe C, Grant PE, Wojcik MH, Stoler J, Genetti CA, van Dooren MF, Maas SM, Alders M, Faivre L, Sorlin A, Yoon G, Yalcin B, Agrawal PB. Duncan AR, et al. Among authors: yalcin b. Am J Hum Genet. 2020 Dec 3;107(6):1170-1177. doi: 10.1016/j.ajhg.2020.11.001. Epub 2020 Nov 23. Am J Hum Genet. 2020. PMID: 33232677 Free PMC article.
584 results