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Results: 1 to 20 of 66

1.

Loci nominally associated with autism from genome-wide analysis show enrichment of brain expression quantitative trait loci but not lymphoblastoid cell line expression quantitative trait loci.

Davis LK, Gamazon ER, Kistner-Griffin E, Badner JA, Liu C, Cook EH, Sutcliffe JS, Cox NJ.

Mol Autism. 2012 May 16;3(1):3. doi: 10.1186/2040-2392-3-3.

PMID:
22591576
[PubMed]
Free PMC Article
2.

De novo gene disruptions in children on the autistic spectrum.

Iossifov I, Ronemus M, Levy D, Wang Z, Hakker I, Rosenbaum J, Yamrom B, Lee YH, Narzisi G, Leotta A, Kendall J, Grabowska E, Ma B, Marks S, Rodgers L, Stepansky A, Troge J, Andrews P, Bekritsky M, Pradhan K, Ghiban E, Kramer M, Parla J, Demeter R, Fulton LL, Fulton RS, Magrini VJ, Ye K, Darnell JC, Darnell RB, Mardis ER, Wilson RK, Schatz MC, McCombie WR, Wigler M.

Neuron. 2012 Apr 26;74(2):285-99. doi: 10.1016/j.neuron.2012.04.009.

PMID:
22542183
[PubMed - indexed for MEDLINE]
Free PMC Article
3.

SHANK1 Deletions in Males with Autism Spectrum Disorder.

Sato D, Lionel AC, Leblond CS, Prasad A, Pinto D, Walker S, O'Connor I, Russell C, Drmic IE, Hamdan FF, Michaud JL, Endris V, Roeth R, Delorme R, Huguet G, Leboyer M, Rastam M, Gillberg C, Lathrop M, Stavropoulos DJ, Anagnostou E, Weksberg R, Fombonne E, Zwaigenbaum L, Fernandez BA, Roberts W, Rappold GA, Marshall CR, Bourgeron T, Szatmari P, Scherer SW.

Am J Hum Genet. 2012 May 4;90(5):879-87. doi: 10.1016/j.ajhg.2012.03.017. Epub 2012 Apr 12.

PMID:
22503632
[PubMed - indexed for MEDLINE]
Free PMC Article
4.

Patterns and rates of exonic de novo mutations in autism spectrum disorders.

Neale BM, Kou Y, Liu L, Ma'ayan A, Samocha KE, Sabo A, Lin CF, Stevens C, Wang LS, Makarov V, Polak P, Yoon S, Maguire J, Crawford EL, Campbell NG, Geller ET, Valladares O, Schafer C, Liu H, Zhao T, Cai G, Lihm J, Dannenfelser R, Jabado O, Peralta Z, Nagaswamy U, Muzny D, Reid JG, Newsham I, Wu Y, Lewis L, Han Y, Voight BF, Lim E, Rossin E, Kirby A, Flannick J, Fromer M, Shakir K, Fennell T, Garimella K, Banks E, Poplin R, Gabriel S, DePristo M, Wimbish JR, Boone BE, Levy SE, Betancur C, Sunyaev S, Boerwinkle E, Buxbaum JD, Cook EH Jr, Devlin B, Gibbs RA, Roeder K, Schellenberg GD, Sutcliffe JS, Daly MJ.

Nature. 2012 Apr 4;485(7397):242-5. doi: 10.1038/nature11011.

PMID:
22495311
[PubMed - indexed for MEDLINE]
Free PMC Article
5.

Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations.

O'Roak BJ, Vives L, Girirajan S, Karakoc E, Krumm N, Coe BP, Levy R, Ko A, Lee C, Smith JD, Turner EH, Stanaway IB, Vernot B, Malig M, Baker C, Reilly B, Akey JM, Borenstein E, Rieder MJ, Nickerson DA, Bernier R, Shendure J, Eichler EE.

Nature. 2012 Apr 4;485(7397):246-50. doi: 10.1038/nature10989.

PMID:
22495309
[PubMed - indexed for MEDLINE]
Free PMC Article
6.

De novo mutations revealed by whole-exome sequencing are strongly associated with autism.

Sanders SJ, Murtha MT, Gupta AR, Murdoch JD, Raubeson MJ, Willsey AJ, Ercan-Sencicek AG, DiLullo NM, Parikshak NN, Stein JL, Walker MF, Ober GT, Teran NA, Song Y, El-Fishawy P, Murtha RC, Choi M, Overton JD, Bjornson RD, Carriero NJ, Meyer KA, Bilguvar K, Mane SM, Sestan N, Lifton RP, Günel M, Roeder K, Geschwind DH, Devlin B, State MW.

Nature. 2012 Apr 4;485(7397):237-41. doi: 10.1038/nature10945.

PMID:
22495306
[PubMed - indexed for MEDLINE]
Free PMC Article
7.

Genetic architecture in autism spectrum disorder.

Devlin B, Scherer SW.

Curr Opin Genet Dev. 2012 Jun;22(3):229-37. doi: 10.1016/j.gde.2012.03.002. Epub 2012 Mar 29. Review.

PMID:
22463983
[PubMed - indexed for MEDLINE]
8.

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.

Am J Hum Genet. 2012 Jan 13;90(1):133-41. doi: 10.1016/j.ajhg.2011.11.025. Epub 2011 Dec 29.

PMID:
22209245
[PubMed - indexed for MEDLINE]
Free PMC Article
9.

Clinically relevant single gene or intragenic deletions encompassing critical neurodevelopmental genes in patients with developmental delay, mental retardation, and/or autism spectrum disorders.

Mikhail FM, Lose EJ, Robin NH, Descartes MD, Rutledge KD, Rutledge SL, Korf BR, Carroll AJ.

Am J Med Genet A. 2011 Oct;155A(10):2386-96. doi: 10.1002/ajmg.a.34177.

PMID:
22031302
[PubMed - indexed for MEDLINE]
10.

A novel approach of homozygous haplotype sharing identifies candidate genes in autism spectrum disorder.

Casey JP, Magalhaes T, Conroy JM, Regan R, Shah N, Anney R, Shields DC, Abrahams BS, Almeida J, Bacchelli E, Bailey AJ, Baird G, Battaglia A, Berney T, Bolshakova N, Bolton PF, Bourgeron T, Brennan S, Cali P, Correia C, Corsello C, Coutanche M, Dawson G, de Jonge M, Delorme R, Duketis E, Duque F, Estes A, Farrar P, Fernandez BA, Folstein SE, Foley S, Fombonne E, Freitag CM, Gilbert J, Gillberg C, Glessner JT, Green J, Guter SJ, Hakonarson H, Holt R, Hughes G, Hus V, Igliozzi R, Kim C, Klauck SM, Kolevzon A, Lamb JA, Leboyer M, Le Couteur A, Leventhal BL, Lord C, Lund SC, Maestrini E, Mantoulan C, Marshall CR, McConachie H, McDougle CJ, McGrath J, McMahon WM, Merikangas A, Miller J, Minopoli F, Mirza GK, Munson J, Nelson SF, Nygren G, Oliveira G, Pagnamenta AT, Papanikolaou K, Parr JR, Parrini B, Pickles A, Pinto D, Piven J, Posey DJ, Poustka A, Poustka F, Ragoussis J, Roge B, Rutter ML, Sequeira AF, Soorya L, Sousa I, Sykes N, Stoppioni V, Tancredi R, Tauber M, Thompson AP, Thomson S, Tsiantis J, Van Engeland H, Vincent JB, Volkmar F, Vorstman JA, Wallace S, Wang K, Wassink TH, White K, Wing K, Wittemeyer K, Yaspan BL, Zwaigenbaum L, Betancur C, Buxbaum JD, Cantor RM, Cook EH, Coon H, Cuccaro ML, Geschwind DH, Haines JL, Hallmayer J, Monaco AP, Nurnberger JI Jr, Pericak-Vance MA, Schellenberg GD, Scherer SW, Sutcliffe JS, Szatmari P, Vieland VJ, Wijsman EM, Green A, Gill M, Gallagher L, Vicente A, Ennis S.

Hum Genet. 2012 Apr;131(4):565-79. doi: 10.1007/s00439-011-1094-6. Epub 2011 Oct 14.

PMID:
21996756
[PubMed - indexed for MEDLINE]
Free PMC Article
11.

Assessment of 2q23.1 microdeletion syndrome implicates MBD5 as a single causal locus of intellectual disability, epilepsy, and autism spectrum disorder.

Talkowski ME, Mullegama SV, Rosenfeld JA, van Bon BW, Shen Y, Repnikova EA, Gastier-Foster J, Thrush DL, Kathiresan S, Ruderfer DM, Chiang C, Hanscom C, Ernst C, Lindgren AM, Morton CC, An Y, Astbury C, Brueton LA, Lichtenbelt KD, Ades LC, Fichera M, Romano C, Innis JW, Williams CA, Bartholomew D, Van Allen MI, Parikh A, Zhang L, Wu BL, Pyatt RE, Schwartz S, Shaffer LG, de Vries BB, Gusella JF, Elsea SH.

Am J Hum Genet. 2011 Oct 7;89(4):551-63. doi: 10.1016/j.ajhg.2011.09.011.

PMID:
21981781
[PubMed - indexed for MEDLINE]
Free PMC Article
12.

Expanding the clinical spectrum associated with defects in CNTNAP2 and NRXN1.

Gregor A, Albrecht B, Bader I, Bijlsma EK, Ekici AB, Engels H, Hackmann K, Horn D, Hoyer J, Klapecki J, Kohlhase J, Maystadt I, Nagl S, Prott E, Tinschert S, Ullmann R, Wohlleber E, Woods G, Reis A, Rauch A, Zweier C.

BMC Med Genet. 2011 Aug 9;12:106. doi: 10.1186/1471-2350-12-106.

PMID:
21827697
[PubMed - indexed for MEDLINE]
Free PMC Article
13.

Don't give up on GWAS.

Sullivan P; 96 Psychiatric Genetics Investigators.

Mol Psychiatry. 2012 Jan;17(1):2-3. doi: 10.1038/mp.2011.94. Epub 2011 Aug 9. No abstract available.

PMID:
21826059
[PubMed - indexed for MEDLINE]
Free PMC Article
14.

Identification of genetic loci underlying the phenotypic constructs of autism spectrum disorders.

Liu XQ, Georgiades S, Duku E, Thompson A, Devlin B, Cook EH, Wijsman EM, Paterson AD, Szatmari P.

J Am Acad Child Adolesc Psychiatry. 2011 Jul;50(7):687-696.e13. doi: 10.1016/j.jaac.2011.05.002.

PMID:
21703496
[PubMed - indexed for MEDLINE]
Free PMC Article
15.

Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.

Sanders SJ, Ercan-Sencicek AG, Hus V, Luo R, Murtha MT, Moreno-De-Luca D, Chu SH, Moreau MP, Gupta AR, Thomson SA, Mason CE, Bilguvar K, Celestino-Soper PB, Choi M, Crawford EL, Davis L, Wright NR, Dhodapkar RM, DiCola M, DiLullo NM, Fernandez TV, Fielding-Singh V, Fishman DO, Frahm S, Garagaloyan R, Goh GS, Kammela S, Klei L, Lowe JK, Lund SC, McGrew AD, Meyer KA, Moffat WJ, Murdoch JD, O'Roak BJ, Ober GT, Pottenger RS, Raubeson MJ, Song Y, Wang Q, Yaspan BL, Yu TW, Yurkiewicz IR, Beaudet AL, Cantor RM, Curland M, Grice DE, Günel M, Lifton RP, Mane SM, Martin DM, Shaw CA, Sheldon M, Tischfield JA, Walsh CA, Morrow EM, Ledbetter DH, Fombonne E, Lord C, Martin CL, Brooks AI, Sutcliffe JS, Cook EH Jr, Geschwind D, Roeder K, Devlin B, State MW.

Neuron. 2011 Jun 9;70(5):863-85. doi: 10.1016/j.neuron.2011.05.002.

PMID:
21658581
[PubMed - indexed for MEDLINE]
Free PMC Article
16.

No association between a common single nucleotide polymorphism, rs4141463, in the MACROD2 gene and autism spectrum disorder.

Curran S, Bolton P, Rozsnyai K, Chiocchetti A, Klauck SM, Duketis E, Poustka F, Schlitt S, Freitag CM, Lee I, Muglia P; ITAN, Poot M, Staal W, de Jonge MV, Ophoff RA, Lewis C, Skuse D, Mandy W, Vassos E, Fossdal R, Magnusson P, Hreidarsson S, Saemundsen E, Stefansson H, Stefansson K, Collier D.

Am J Med Genet B Neuropsychiatr Genet. 2011 Sep;156B(6):633-9. doi: 10.1002/ajmg.b.31201. Epub 2011 Jun 8.

PMID:
21656903
[PubMed - indexed for MEDLINE]
17.

Gene-ontology enrichment analysis in two independent family-based samples highlights biologically plausible processes for autism spectrum disorders.

Anney RJ, Kenny EM, O'Dushlaine C, Yaspan BL, Parkhomenka E, Buxbaum JD, Sutcliffe J, Gill M, Gallagher L; Autism Genome Project, Buxbaum JD, Sutcliffe J, Gill M, Gallagher L.

Eur J Hum Genet. 2011 Oct;19(10):1082-9. doi: 10.1038/ejhg.2011.75. Epub 2011 Apr 27.

PMID:
21522181
[PubMed - indexed for MEDLINE]
Free PMC Article
18.

Novel method for combined linkage and genome-wide association analysis finds evidence of distinct genetic architecture for two subtypes of autism.

Vieland VJ, Hallmayer J, Huang Y, Pagnamenta AT, Pinto D, Khan H, Monaco AP, Paterson AD, Scherer SW, Sutcliffe JS, Szatmari P; Autism Genome Project (AGP).

J Neurodev Disord. 2011 Jun;3(2):113-23. doi: 10.1007/s11689-011-9072-9. Epub 2011 Jan 19.

PMID:
21484201
[PubMed]
Free PMC Article
19.

Uncoupling antisense-mediated silencing and DNA methylation in the imprinted Gnas cluster.

Williamson CM, Ball ST, Dawson C, Mehta S, Beechey CV, Fray M, Teboul L, Dear TN, Kelsey G, Peters J.

PLoS Genet. 2011 Mar;7(3):e1001347. doi: 10.1371/journal.pgen.1001347. Epub 2011 Mar 24.

PMID:
21455290
[PubMed - indexed for MEDLINE]
Free PMC Article
20.

Genetic analysis of biological pathway data through genomic randomization.

Yaspan BL, Bush WS, Torstenson ES, Ma D, Pericak-Vance MA, Ritchie MD, Sutcliffe JS, Haines JL.

Hum Genet. 2011 May;129(5):563-71. doi: 10.1007/s00439-011-0956-2. Epub 2011 Jan 30.

PMID:
21279722
[PubMed - indexed for MEDLINE]
Free PMC Article

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