Detalhe da pesquisa
1.
Coexpression networks implicate human midfetal deep cortical projection neurons in the pathogenesis of autism.
Cell
; 155(5): 997-1007, 2013 Nov 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-24267886
2.
The contribution of de novo coding mutations to autism spectrum disorder.
Nature
; 515(7526): 216-21, 2014 Nov 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-25363768
3.
De novo mutations revealed by whole-exome sequencing are strongly associated with autism.
Nature
; 485(7397): 237-41, 2012 Apr 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-22495306
4.
No evidence for association of autism with rare heterozygous point mutations in Contactin-Associated Protein-Like 2 (CNTNAP2), or in Other Contactin-Associated Proteins or Contactins.
PLoS Genet
; 11(1): e1004852, 2015 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-25621974
5.
Intellectual disability is associated with increased runs of homozygosity in simplex autism.
Am J Hum Genet
; 93(1): 103-9, 2013 Jul 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-23830515
6.
Use of array CGH to detect exonic copy number variants throughout the genome in autism families detects a novel deletion in TMLHE.
Hum Mol Genet
; 20(22): 4360-70, 2011 Nov 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-21865298
7.
A genome-wide association study of autism using the Simons Simplex Collection: Does reducing phenotypic heterogeneity in autism increase genetic homogeneity?
Biol Psychiatry
; 77(9): 775-84, 2015 May 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-25534755
8.
Insights into Autism Spectrum Disorder Genomic Architecture and Biology from 71 Risk Loci.
Neuron
; 87(6): 1215-1233, 2015 Sep 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-26402605
9.
Modest impact on risk for autism spectrum disorder of rare copy number variants at 15q11.2, specifically breakpoints 1 to 2.
Autism Res
; 7(3): 355-62, 2014 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-24821083
10.
Adjusting head circumference for covariates in autism: clinical correlates of a highly heritable continuous trait.
Biol Psychiatry
; 74(8): 576-84, 2013 Oct 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-23746936
11.
Common genetic variants, acting additively, are a major source of risk for autism.
Mol Autism
; 3(1): 9, 2012 Oct 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-23067556
12.
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.
Neuron
; 70(5): 863-85, 2011 Jun 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-21658581
13.
Common variants at five new loci associated with early-onset inflammatory bowel disease.
Nat Genet
; 41(12): 1335-40, 2009 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-19915574
14.
Genome-wide association defines more than 30 distinct susceptibility loci for Crohn's disease.
Nat Genet
; 40(8): 955-62, 2008 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-18587394