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Items: 13

1.

Genome-wide analyses of exonic copy number variants in a family-based study point to novel autism susceptibility genes.

Bucan M, Abrahams BS, Wang K, Glessner JT, Herman EI, Sonnenblick LI, Alvarez Retuerto AI, Imielinski M, Hadley D, Bradfield JP, Kim C, Gidaya NB, Lindquist I, Hutman T, Sigman M, Kustanovich V, Lajonchere CM, Singleton A, Kim J, Wassink TH, McMahon WM, Owley T, Sweeney JA, Coon H, Nurnberger JI, Li M, Cantor RM, Minshew NJ, Sutcliffe JS, Cook EH, Dawson G, Buxbaum JD, Grant SF, Schellenberg GD, Geschwind DH, Hakonarson H.

PLoS Genet. 2009 Jun;5(6):e1000536. doi: 10.1371/journal.pgen.1000536. Epub 2009 Jun 26.

2.

Autism and nonsyndromic mental retardation associated with a de novo mutation in the NLGN4X gene promoter causing an increased expression level.

Daoud H, Bonnet-Brilhault F, Védrine S, Demattéi MV, Vourc'h P, Bayou N, Andres CR, Barthélémy C, Laumonnier F, Briault S.

Biol Psychiatry. 2009 Nov 15;66(10):906-10. doi: 10.1016/j.biopsych.2009.05.008. Epub 2009 Jul 9.

PMID:
19545860
3.

High-density SNP association study of the 17q21 chromosomal region linked to autism identifies CACNA1G as a novel candidate gene.

Strom SP, Stone JL, Ten Bosch JR, Merriman B, Cantor RM, Geschwind DH, Nelson SF.

Mol Psychiatry. 2010 Oct;15(10):996-1005. doi: 10.1038/mp.2009.41. Epub 2009 May 19.

4.

Common genetic variants on 5p14.1 associate with autism spectrum disorders.

Wang K, Zhang H, Ma D, Bucan M, Glessner JT, Abrahams BS, Salyakina D, Imielinski M, Bradfield JP, Sleiman PM, Kim CE, Hou C, Frackelton E, Chiavacci R, Takahashi N, Sakurai T, Rappaport E, Lajonchere CM, Munson J, Estes A, Korvatska O, Piven J, Sonnenblick LI, Alvarez Retuerto AI, Herman EI, Dong H, Hutman T, Sigman M, Ozonoff S, Klin A, Owley T, Sweeney JA, Brune CW, Cantor RM, Bernier R, Gilbert JR, Cuccaro ML, McMahon WM, Miller J, State MW, Wassink TH, Coon H, Levy SE, Schultz RT, Nurnberger JI, Haines JL, Sutcliffe JS, Cook EH, Minshew NJ, Buxbaum JD, Dawson G, Grant SF, Geschwind DH, Pericak-Vance MA, Schellenberg GD, Hakonarson H.

Nature. 2009 May 28;459(7246):528-33. doi: 10.1038/nature07999. Epub 2009 Apr 28.

5.

Copy-number variations associated with neuropsychiatric conditions.

Cook EH Jr, Scherer SW.

Nature. 2008 Oct 16;455(7215):919-23. doi: 10.1038/nature07458. Review.

PMID:
18923514
6.

Advances in autism genetics: on the threshold of a new neurobiology.

Abrahams BS, Geschwind DH.

Nat Rev Genet. 2008 May;9(5):341-55. doi: 10.1038/nrg2346. Review. Erratum in: Nat Rev Genet. 2008 Jun;9(6):493.

7.

Association between microdeletion and microduplication at 16p11.2 and autism.

Weiss LA, Shen Y, Korn JM, Arking DE, Miller DT, Fossdal R, Saemundsen E, Stefansson H, Ferreira MA, Green T, Platt OS, Ruderfer DM, Walsh CA, Altshuler D, Chakravarti A, Tanzi RE, Stefansson K, Santangelo SL, Gusella JF, Sklar P, Wu BL, Daly MJ; Autism Consortium.

N Engl J Med. 2008 Feb 14;358(7):667-75. doi: 10.1056/NEJMoa075974. Epub 2008 Jan 9.

8.

Molecular cytogenetic analysis and resequencing of contactin associated protein-like 2 in autism spectrum disorders.

Bakkaloglu B, O'Roak BJ, Louvi A, Gupta AR, Abelson JF, Morgan TM, Chawarska K, Klin A, Ercan-Sencicek AG, Stillman AA, Tanriover G, Abrahams BS, Duvall JA, Robbins EM, Geschwind DH, Biederer T, Gunel M, Lifton RP, State MW.

Am J Hum Genet. 2008 Jan;82(1):165-73. doi: 10.1016/j.ajhg.2007.09.017.

9.

Linkage, association, and gene-expression analyses identify CNTNAP2 as an autism-susceptibility gene.

Alarcón M, Abrahams BS, Stone JL, Duvall JA, Perederiy JV, Bomar JM, Sebat J, Wigler M, Martin CL, Ledbetter DH, Nelson SF, Cantor RM, Geschwind DH.

Am J Hum Genet. 2008 Jan;82(1):150-9. doi: 10.1016/j.ajhg.2007.09.005.

10.

Strong association of de novo copy number mutations with autism.

Sebat J, Lakshmi B, Malhotra D, Troge J, Lese-Martin C, Walsh T, Yamrom B, Yoon S, Krasnitz A, Kendall J, Leotta A, Pai D, Zhang R, Lee YH, Hicks J, Spence SJ, Lee AT, Puura K, Lehtimäki T, Ledbetter D, Gregersen PK, Bregman J, Sutcliffe JS, Jobanputra V, Chung W, Warburton D, King MC, Skuse D, Geschwind DH, Gilliam TC, Ye K, Wigler M.

Science. 2007 Apr 20;316(5823):445-9. Epub 2007 Mar 15.

11.

X-linked mental retardation and autism are associated with a mutation in the NLGN4 gene, a member of the neuroligin family.

Laumonnier F, Bonnet-Brilhault F, Gomot M, Blanc R, David A, Moizard MP, Raynaud M, Ronce N, Lemonnier E, Calvas P, Laudier B, Chelly J, Fryns JP, Ropers HH, Hamel BC, Andres C, Barthélémy C, Moraine C, Briault S.

Am J Hum Genet. 2004 Mar;74(3):552-7. Epub 2004 Feb 12.

12.

Mutations of the X-linked genes encoding neuroligins NLGN3 and NLGN4 are associated with autism.

Jamain S, Quach H, Betancur C, Råstam M, Colineaux C, Gillberg IC, Soderstrom H, Giros B, Leboyer M, Gillberg C, Bourgeron T; Paris Autism Research International Sibpair Study.

Nat Genet. 2003 May;34(1):27-9.

13.

Autism or atypical autism in maternally but not paternally derived proximal 15q duplication.

Cook EH Jr, Lindgren V, Leventhal BL, Courchesne R, Lincoln A, Shulman C, Lord C, Courchesne E.

Am J Hum Genet. 1997 Apr;60(4):928-34.

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