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Results: 1 to 20 of 88

Similar articles for PubMed (Select 23352160)

1.

Rare complete knockouts in humans: population distribution and significant role in autism spectrum disorders.

Lim ET, Raychaudhuri S, Sanders SJ, Stevens C, Sabo A, MacArthur DG, Neale BM, Kirby A, Ruderfer DM, Fromer M, Lek M, Liu L, Flannick J, Ripke S, Nagaswamy U, Muzny D, Reid JG, Hawes A, Newsham I, Wu Y, Lewis L, Dinh H, Gross S, Wang LS, Lin CF, Valladares O, Gabriel SB, dePristo M, Altshuler DM, Purcell SM; NHLBI Exome Sequencing Project, State MW, Boerwinkle E, Buxbaum JD, Cook EH, Gibbs RA, Schellenberg GD, Sutcliffe JS, Devlin B, Roeder K, Daly MJ.

Neuron. 2013 Jan 23;77(2):235-42. doi: 10.1016/j.neuron.2012.12.029.

2.

Analysis of the chromosome X exome in patients with autism spectrum disorders identified novel candidate genes, including TMLHE.

Nava C, Lamari F, Héron D, Mignot C, Rastetter A, Keren B, Cohen D, Faudet A, Bouteiller D, Gilleron M, Jacquette A, Whalen S, Afenjar A, Périsse D, Laurent C, Dupuits C, Gautier C, Gérard M, Huguet G, Caillet S, Leheup B, Leboyer M, Gillberg C, Delorme R, Bourgeron T, Brice A, Depienne C.

Transl Psychiatry. 2012 Oct 23;2:e179. doi: 10.1038/tp.2012.102.

3.

Human PTCHD3 nulls: rare copy number and sequence variants suggest a non-essential gene.

Ghahramani Seno MM, Kwan BY, Lee-Ng KK, Moessner R, Lionel AC, Marshall CR, Scherer SW.

BMC Med Genet. 2011 Mar 26;12:45. doi: 10.1186/1471-2350-12-45.

4.

Integrated model of de novo and inherited genetic variants yields greater power to identify risk genes.

He X, Sanders SJ, Liu L, De Rubeis S, Lim ET, Sutcliffe JS, Schellenberg GD, Gibbs RA, Daly MJ, Buxbaum JD, State MW, Devlin B, Roeder K.

PLoS Genet. 2013;9(8):e1003671. doi: 10.1371/journal.pgen.1003671. Epub 2013 Aug 15.

5.

Copy number and sequence variants implicate APBA2 as an autism candidate gene.

Babatz TD, Kumar RA, Sudi J, Dobyns WB, Christian SL.

Autism Res. 2009 Dec;2(6):359-64. doi: 10.1002/aur.107.

PMID:
20029827
6.

Fine mapping of Xq11.1-q21.33 and mutation screening of RPS6KA6, ZNF711, ACSL4, DLG3, and IL1RAPL2 for autism spectrum disorders (ASD).

Kantojärvi K, Kotala I, Rehnström K, Ylisaukko-Oja T, Vanhala R, von Wendt TN, von Wendt L, Järvelä I.

Autism Res. 2011 Jun;4(3):228-33. doi: 10.1002/aur.187. Epub 2011 Feb 22.

PMID:
21384559
7.

Excess variants in AFF2 detected by massively parallel sequencing of males with autism spectrum disorder.

Mondal K, Ramachandran D, Patel VC, Hagen KR, Bose P, Cutler DJ, Zwick ME.

Hum Mol Genet. 2012 Oct 1;21(19):4356-64. doi: 10.1093/hmg/dds267. Epub 2012 Jul 5.

8.

Prevalence of autism spectrum disorders - Autism and Developmental Disabilities Monitoring Network, United States, 2006.

Autism and Developmental Disabilities Monitoring Network Surveillance Year 2006 Principal Investigators; Centers for Disease Control and Prevention (CDC).

MMWR Surveill Summ. 2009 Dec 18;58(10):1-20. Erratum in: MMWR Surveill Summ. 2010 Aug 6;59(30):956.

9.

Intellectual disability is associated with increased runs of homozygosity in simplex autism.

Gamsiz ED, Viscidi EW, Frederick AM, Nagpal S, Sanders SJ, Murtha MT, Schmidt M; Simons Simplex Collection Genetics Consortium, Triche EW, Geschwind DH, State MW, Istrail S, Cook EH Jr, Devlin B, Morrow EM.

Am J Hum Genet. 2013 Jul 11;93(1):103-9. doi: 10.1016/j.ajhg.2013.06.004. Epub 2013 Jul 3.

10.

Autism spectrum disorder severity reflects the average contribution of de novo and familial influences.

Robinson EB, Samocha KE, Kosmicki JA, McGrath L, Neale BM, Perlis RH, Daly MJ.

Proc Natl Acad Sci U S A. 2014 Oct 21;111(42):15161-5. doi: 10.1073/pnas.1409204111. Epub 2014 Oct 6.

11.

Phenotypic spectrum associated with de novo and inherited deletions and duplications at 16p11.2 in individuals ascertained for diagnosis of autism spectrum disorder.

Fernandez BA, Roberts W, Chung B, Weksberg R, Meyn S, Szatmari P, Joseph-George AM, Mackay S, Whitten K, Noble B, Vardy C, Crosbie V, Luscombe S, Tucker E, Turner L, Marshall CR, Scherer SW.

J Med Genet. 2010 Mar;47(3):195-203. doi: 10.1136/jmg.2009.069369. Epub 2009 Sep 15.

PMID:
19755429
12.

Oligogenic heterozygosity in individuals with high-functioning autism spectrum disorders.

Schaaf CP, Sabo A, Sakai Y, Crosby J, Muzny D, Hawes A, Lewis L, Akbar H, Varghese R, Boerwinkle E, Gibbs RA, Zoghbi HY.

Hum Mol Genet. 2011 Sep 1;20(17):3366-75. doi: 10.1093/hmg/ddr243. Epub 2011 May 30.

13.

Autism spectrum disorders associated with X chromosome markers in French-Canadian males.

Gauthier J, Joober R, Dubé MP, St-Onge J, Bonnel A, Gariépy D, Laurent S, Najafee R, Lacasse H, St-Charles L, Fombonne E, Mottron L, Rouleau GA.

Mol Psychiatry. 2006 Feb;11(2):206-13.

PMID:
16261168
14.

Prevalence of autism spectrum disorders--Autism and Developmental Disabilities Monitoring Network, 14 sites, United States, 2008.

Autism and Developmental Disabilities Monitoring Network Surveillance Year 2008 Principal Investigators; Centers for Disease Control and Prevention.

MMWR Surveill Summ. 2012 Mar 30;61(3):1-19.

15.

Lack of association between NLGN3, NLGN4, SHANK2 and SHANK3 gene variants and autism spectrum disorder in a Chinese population.

Liu Y, Du Y, Liu W, Yang C, Liu Y, Wang H, Gong X.

PLoS One. 2013;8(2):e56639. doi: 10.1371/journal.pone.0056639. Epub 2013 Feb 26.

16.

Role of metabotropic glutamate receptor 7 in autism spectrum disorders: a pilot study.

Yang Y, Pan C.

Life Sci. 2013 Feb 7;92(2):149-53. doi: 10.1016/j.lfs.2012.11.010. Epub 2012 Nov 28.

PMID:
23201551
17.

Network- and attribute-based classifiers can prioritize genes and pathways for autism spectrum disorders and intellectual disability.

Kou Y, Betancur C, Xu H, Buxbaum JD, Ma'ayan A.

Am J Med Genet C Semin Med Genet. 2012 May 15;160C(2):130-42. doi: 10.1002/ajmg.c.31330. Epub 2012 Apr 12.

18.

Analysis of rare, exonic variation amongst subjects with autism spectrum disorders and population controls.

Liu L, Sabo A, Neale BM, Nagaswamy U, Stevens C, Lim E, Bodea CA, Muzny D, Reid JG, Banks E, Coon H, Depristo M, Dinh H, Fennel T, Flannick J, Gabriel S, Garimella K, Gross S, Hawes A, Lewis L, Makarov V, Maguire J, Newsham I, Poplin R, Ripke S, Shakir K, Samocha KE, Wu Y, Boerwinkle E, Buxbaum JD, Cook EH Jr, Devlin B, Schellenberg GD, Sutcliffe JS, Daly MJ, Gibbs RA, Roeder K.

PLoS Genet. 2013 Apr;9(4):e1003443. doi: 10.1371/journal.pgen.1003443. Epub 2013 Apr 11.

19.

Analysis of 9p24 and 11p12-13 regions in autism spectrum disorders: rs1340513 in the JMJD2C gene is associated with ASDs in Finnish sample.

Kantojärvi K, Onkamo P, Vanhala R, Alen R, Hedman M, Sajantila A, Nieminen-von Wendt T, Järvelä I.

Psychiatr Genet. 2010 Jun;20(3):102-8. doi: 10.1097/YPG.0b013e32833a2080.

PMID:
20410850
20.

The genetics of autism.

Muhle R, Trentacoste SV, Rapin I.

Pediatrics. 2004 May;113(5):e472-86. Review.

PMID:
15121991
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