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Microdeletions of ELP4 Are Associated with Language Impairment, Autism Spectrum Disorder, and Mental Retardation.
Addis L, Ahn JW, Dobson R, Dixit A, Ogilvie CM, Pinto D, Vaags AK, Coon H, Chaste P, Wilson S, Parr JR, Andrieux J, Lenne B, Tumer Z, Leuzzi V, Aubell K, Koillinen H, Curran S, Marshall CR, Scherer SW, Strug LJ, Collier DA, Pal DK. Addis L, et al. Among authors: collier da. Hum Mutat. 2015 Sep;36(9):842-50. doi: 10.1002/humu.22816. Epub 2015 Jun 30. Hum Mutat. 2015. PMID: 26010655
BBGRE: brain and body genetic resource exchange.
Ahn JW, Dixit A, Johnston C, Ogilvie CM, Collier DA, Curran S, Dobson RJ. Ahn JW, et al. Among authors: collier da. Database (Oxford). 2013 Sep 27;2013:bat067. doi: 10.1093/database/bat067. Print 2013. Database (Oxford). 2013. PMID: 24077841 Free PMC article.
Rare deletions at the neurexin 3 locus in autism spectrum disorder.
Vaags AK, Lionel AC, Sato D, Goodenberger M, Stein QP, Curran S, Ogilvie C, Ahn JW, Drmic I, Senman L, Chrysler C, Thompson A, Russell C, Prasad A, Walker S, Pinto D, Marshall CR, Stavropoulos DJ, Zwaigenbaum L, Fernandez BA, Fombonne E, Bolton PF, Collier DA, Hodge JC, Roberts W, Szatmari P, Scherer SW. Vaags AK, et al. Among authors: collier da. Am J Hum Genet. 2012 Jan 13;90(1):133-41. doi: 10.1016/j.ajhg.2011.11.025. Epub 2011 Dec 29. Am J Hum Genet. 2012. PMID: 22209245 Free PMC article.
Microduplications at the pseudoautosomal SHOX locus in autism spectrum disorders and related neurodevelopmental conditions.
Tropeano M, Howley D, Gazzellone MJ, Wilson CE, Ahn JW, Stavropoulos DJ, Murphy CM, Eis PS, Hatchwell E, Dobson RJ, Robertson D, Holder M, Irving M, Josifova D, Nehammer A, Ryten M, Spain D, Pitts M, Bramham J, Asherson P, Curran S, Vassos E, Breen G, Flinter F, Ogilvie CM, Collier DA, Scherer SW, McAlonan GM, Murphy DG. Tropeano M, et al. Among authors: collier da. J Med Genet. 2016 Aug;53(8):536-47. doi: 10.1136/jmedgenet-2015-103621. Epub 2016 Apr 12. J Med Genet. 2016. PMID: 27073233
Clinical utility gene card for: 16p13.11 microdeletion syndrome.
Tropeano M, Andrieux J, Collier DA. Tropeano M, et al. Among authors: collier da. Eur J Hum Genet. 2014 May;22(5). doi: 10.1038/ejhg.2013.230. Epub 2013 Oct 9. Eur J Hum Genet. 2014. PMID: 24105370 Free PMC article. No abstract available.
Clinical utility gene card for: 15q13.3 microdeletion syndrome.
Tropeano M, Andrieux J, Vassos E, Collier DA. Tropeano M, et al. Among authors: collier da. Eur J Hum Genet. 2014 Nov;22(11):1338. doi: 10.1038/ejhg.2014.88. Epub 2014 May 14. Eur J Hum Genet. 2014. PMID: 24824131 Free PMC article. No abstract available.
Genetic and functional analyses of SHANK2 mutations suggest a multiple hit model of autism spectrum disorders.
Leblond CS, Heinrich J, Delorme R, Proepper C, Betancur C, Huguet G, Konyukh M, Chaste P, Ey E, Rastam M, Anckarsäter H, Nygren G, Gillberg IC, Melke J, Toro R, Regnault B, Fauchereau F, Mercati O, Lemière N, Skuse D, Poot M, Holt R, Monaco AP, Järvelä I, Kantojärvi K, Vanhala R, Curran S, Collier DA, Bolton P, Chiocchetti A, Klauck SM, Poustka F, Freitag CM, Waltes R, Kopp M, Duketis E, Bacchelli E, Minopoli F, Ruta L, Battaglia A, Mazzone L, Maestrini E, Sequeira AF, Oliveira B, Vicente A, Oliveira G, Pinto D, Scherer SW, Zelenika D, Delepine M, Lathrop M, Bonneau D, Guinchat V, Devillard F, Assouline B, Mouren MC, Leboyer M, Gillberg C, Boeckers TM, Bourgeron T. Leblond CS, et al. Among authors: collier da. PLoS Genet. 2012 Feb;8(2):e1002521. doi: 10.1371/journal.pgen.1002521. Epub 2012 Feb 9. PLoS Genet. 2012. PMID: 22346768 Free PMC article.
404 results