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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: mandel jl. 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.
Monogenic causes of X-linked mental retardation.
Chelly J, Mandel JL. Chelly J, et al. Among authors: mandel jl. Nat Rev Genet. 2001 Sep;2(9):669-80. doi: 10.1038/35088558. Nat Rev Genet. 2001. PMID: 11533716 Review.
Ten new cases further delineate the syndromic intellectual disability phenotype caused by mutations in DYRK1A.
Bronicki LM, Redin C, Drunat S, Piton A, Lyons M, Passemard S, Baumann C, Faivre L, Thevenon J, Rivière JB, Isidor B, Gan G, Francannet C, Willems M, Gunel M, Jones JR, Gleeson JG, Mandel JL, Stevenson RE, Friez MJ, Aylsworth AS. Bronicki LM, et al. Among authors: mandel jl. Eur J Hum Genet. 2015 Nov;23(11):1482-7. doi: 10.1038/ejhg.2015.29. Epub 2015 Apr 29. Eur J Hum Genet. 2015. PMID: 25920557 Free PMC article.
Analysis of mammalian gene function through broad-based phenotypic screens across a consortium of mouse clinics.
de Angelis MH, Nicholson G, Selloum M, White J, Morgan H, Ramirez-Solis R, Sorg T, Wells S, Fuchs H, Fray M, Adams DJ, Adams NC, Adler T, Aguilar-Pimentel A, Ali-Hadji D, Amann G, André P, Atkins S, Auburtin A, Ayadi A, Becker J, Becker L, Bedu E, Bekeredjian R, Birling MC, Blake A, Bottomley J, Bowl M, Brault V, Busch DH, Bussell JN, Calzada-Wack J, Cater H, Champy MF, Charles P, Chevalier C, Chiani F, Codner GF, Combe R, Cox R, Dalloneau E, Dierich A, Di Fenza A, Doe B, Duchon A, Eickelberg O, Esapa CT, El Fertak L, Feigel T, Emelyanova I, Estabel J, Favor J, Flenniken A, Gambadoro A, Garrett L, Gates H, Gerdin AK, Gkoutos G, Greenaway S, Glasl L, Goetz P, Da Cruz IG, Götz A, Graw J, Guimond A, Hans W, Hicks G, Hölter SM, Höfler H, Hancock JM, Hoehndorf R, Hough T, Houghton R, Hurt A, Ivandic B, Jacobs H, Jacquot S, Jones N, Karp NA, Katus HA, Kitchen S, Klein-Rodewald T, Klingenspor M, Klopstock T, Lalanne V, Leblanc S, Lengger C, le Marchand E, Ludwig T, Lux A, McKerlie C, Maier H, Mandel JL, Marschall S, Mark M, Melvin DG, Meziane H, Micklich K, Mittelhauser C, Monassier L, Moulaert D, Muller S, Naton B, Neff F, Nolan PM, Nutter LM, Ollert M, Pavlovic G, Pellegata NS, … See abstract for full author list ➔ de Angelis MH, et al. Among authors: mandel jl. Nat Genet. 2015 Sep;47(9):969-978. doi: 10.1038/ng.3360. Epub 2015 Jul 27. Nat Genet. 2015. PMID: 26214591 Free PMC article.
Sex-specific impact of prenatal androgens on social brain default mode subsystems.
Lombardo MV, Auyeung B, Pramparo T, Quartier A, Courraud J, Holt RJ, Waldman J, Ruigrok ANV, Mooney N, Bethlehem RAI, Lai MC, Kundu P, Bullmore ET, Mandel JL, Piton A, Baron-Cohen S. Lombardo MV, et al. Among authors: mandel jl. Mol Psychiatry. 2020 Sep;25(9):2175-2188. doi: 10.1038/s41380-018-0198-y. Epub 2018 Aug 13. Mol Psychiatry. 2020. PMID: 30104728 Free PMC article.
388 results