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Year Number of Results
2008 1
2013 3
2014 3
2016 1
2017 2
2018 2
2019 3
2020 3
2021 4
2022 3
2023 2
2024 1

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27 results

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Page 1
Genetic determinants of micronucleus formation in vivo.
Adams DJ, Barlas B, McIntyre RE, Salguero I, van der Weyden L, Barros A, Vicente JR, Karimpour N, Haider A, Ranzani M, Turner G, Thompson NA, Harle V, Olvera-León R, Robles-Espinoza CD, Speak AO, Geisler N, Weninger WJ, Geyer SH, Hewinson J, Karp NA; Sanger Mouse Genetics Project; Fu B, Yang F, Kozik Z, Choudhary J, Yu L, van Ruiten MS, Rowland BD, Lelliott CJ, Del Castillo Velasco-Herrera M, Verstraten R, Bruckner L, Henssen AG, Rooimans MA, de Lange J, Mohun TJ, Arends MJ, Kentistou KA, Coelho PA, Zhao Y, Zecchini H, Perry JRB, Jackson SP, Balmus G. Adams DJ, et al. Nature. 2024 Mar;627(8002):130-136. doi: 10.1038/s41586-023-07009-0. Epub 2024 Feb 14. Nature. 2024. PMID: 38355793 Free PMC 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: 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.
Accelerating functional gene discovery in osteoarthritis.
Butterfield NC, Curry KF, Steinberg J, Dewhurst H, Komla-Ebri D, Mannan NS, Adoum AT, Leitch VD, Logan JG, Waung JA, Ghirardello E, Southam L, Youlten SE, Wilkinson JM, McAninch EA, Vancollie VE, Kussy F, White JK, Lelliott CJ, Adams DJ, Jacques R, Bianco AC, Boyde A, Zeggini E, Croucher PI, Williams GR, Bassett JHD. Butterfield NC, et al. Among authors: vancollie ve. Nat Commun. 2021 Jan 20;12(1):467. doi: 10.1038/s41467-020-20761-5. Nat Commun. 2021. PMID: 33473114 Free PMC article.
Genome-wide screening reveals the genetic basis of mammalian embryonic eye development.
Chee JM, Lanoue L, Clary D, Higgins K, Bower L, Flenniken A, Guo R, Adams DJ, Bosch F, Braun RE, Brown SDM, Chin HG, Dickinson ME, Hsu CW, Dobbie M, Gao X, Galande S, Grobler A, Heaney JD, Herault Y, de Angelis MH, Mammano F, Nutter LMJ, Parkinson H, Qin C, Shiroishi T, Sedlacek R, Seong JK, Xu Y; International Mouse Phenotyping Consortium; Brooks B, McKerlie C, Lloyd KCK, Westerberg H, Moshiri A. Chee JM, et al. BMC Biol. 2023 Feb 3;21(1):22. doi: 10.1186/s12915-022-01475-0. BMC Biol. 2023. PMID: 36737727 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. 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.
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.
Publisher Correction: Accelerating functional gene discovery in osteoarthritis.
Butterfield NC, Curry KF, Steinberg J, Dewhurst H, Komla-Ebri D, Mannan NS, Adoum AT, Leitch VD, Logan JG, Waung JA, Ghirardello E, Southam L, Youlten SE, Wilkinson JM, McAninch EA, Vancollie VE, Kussy F, White JK, Lelliott CJ, Adams DJ, Jacques R, Bianco AC, Boyde A, Zeggini E, Croucher PI, Williams GR, Bassett JHD. Butterfield NC, et al. Among authors: vancollie ve. Nat Commun. 2021 May 28;12(1):3302. doi: 10.1038/s41467-021-23768-8. Nat Commun. 2021. PMID: 34050183 Free PMC article. No abstract available.
PDZD8 Disruption Causes Cognitive Impairment in Humans, Mice, and Fruit Flies.
Al-Amri AH, Armstrong P, Amici M, Ligneul C, Rouse J, El-Asrag ME, Pantiru A, Vancollie VE, Ng HWY, Ogbeta JA, Goodchild K, Ellegood J, Lelliott CJ, Mullins JGL, Bretman A, Al-Ali R, Beetz C, Al-Gazali L, Al Shamsi A, Lerch JP, Mellor JR, Al Sayegh A, Ali M, Inglehearn CF, Clapcote SJ. Al-Amri AH, et al. Among authors: vancollie ve. Biol Psychiatry. 2022 Aug 15;92(4):323-334. doi: 10.1016/j.biopsych.2021.12.017. Epub 2022 Jan 11. Biol Psychiatry. 2022. PMID: 35227461 Free PMC 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.
27 results