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Page 1
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: vancollie ve. 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.
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. 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.
Myosin 10 is involved in murine pigmentation.
Liakath-Ali K, Vancollie VE, Sequeira I, Lelliott CJ, Watt FM. Liakath-Ali K, et al. Among authors: vancollie ve. Exp Dermatol. 2019 Apr;28(4):391-394. doi: 10.1111/exd.13528. Epub 2018 Apr 24. Exp Dermatol. 2019. PMID: 29509981 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: vancollie ve. Nat Commun. 2019 Aug 1;10(1):3465. doi: 10.1038/s41467-019-11431-2. Nat Commun. 2019. PMID: 31371714 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: vancollie ve. 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: vancollie ve. 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.
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: vancollie ve. 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.
Biallelic variants in TRAPPC10 cause a microcephalic TRAPPopathy disorder in humans and mice.
Rawlins LE, Almousa H, Khan S, Collins SC, Milev MP, Leslie J, Saint-Dic D, Khan V, Hincapie AM, Day JO, McGavin L, Rowley C, Harlalka GV, Vancollie VE, Ahmad W, Lelliott CJ, Gul A, Yalcin B, Crosby AH, Sacher M, Baple EL. Rawlins LE, et al. Among authors: vancollie ve. PLoS Genet. 2022 Mar 17;18(3):e1010114. doi: 10.1371/journal.pgen.1010114. eCollection 2022 Mar. PLoS Genet. 2022. PMID: 35298461 Free PMC article.
31 results