Detalhe da pesquisa
1.
A Chromatin Accessibility Atlas of the Developing Human Telencephalon.
Cell
; 182(3): 754-769.e18, 2020 08 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32610082
2.
Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism.
Cell
; 180(3): 568-584.e23, 2020 02 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-31981491
3.
The Psychiatric Cell Map Initiative: A Convergent Systems Biological Approach to Illuminating Key Molecular Pathways in Neuropsychiatric Disorders.
Cell
; 174(3): 505-520, 2018 07 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-30053424
4.
Psychiatric disorders: diagnosis to therapy.
Cell
; 157(1): 201-14, 2014 Mar 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-24679536
5.
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
6.
Genomics, convergent neuroscience and progress in understanding autism spectrum disorder.
Nat Rev Neurosci
; 23(6): 323-341, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-35440779
7.
Pleiotropy of autism-associated chromatin regulators.
Development
; 150(14)2023 07 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-37366052
8.
The neurodevelopmental disorder risk gene DYRK1A is required for ciliogenesis and control of brain size in Xenopus embryos.
Development
; 147(21)2020 06 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-32467234
9.
Loss of δ-catenin function in severe autism.
Nature
; 520(7545): 51-6, 2015 Apr 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-25807484
10.
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
11.
Correction: The neurodevelopmental disorder risk gene DYRK1A is required for ciliogenesis and control of brain size in Xenopus embryos.
Development
; 147(23)2020 Dec 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33288503
12.
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
13.
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
14.
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
15.
Increased frequency of de novo copy number variants in congenital heart disease by integrative analysis of single nucleotide polymorphism array and exome sequence data.
Circ Res
; 115(10): 884-896, 2014 Oct 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-25205790
16.
Whole-exome sequencing identifies recessive WDR62 mutations in severe brain malformations.
Nature
; 467(7312): 207-10, 2010 Sep 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-20729831
17.
Integrated model of de novo and inherited genetic variants yields greater power to identify risk genes.
PLoS Genet
; 9(8): e1003671, 2013.
Artigo
em Inglês
| MEDLINE | ID: mdl-23966865
18.
Genome-wide transcriptome profiling reveals the functional impact of rare de novo and recurrent CNVs in autism spectrum disorders.
Am J Hum Genet
; 91(1): 38-55, 2012 Jul 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-22726847
19.
Common genetic variants on 5p14.1 associate with autism spectrum disorders.
Nature
; 459(7246): 528-33, 2009 May 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-19404256
20.
The Tourette International Collaborative Genetics (TIC Genetics) study, finding the genes causing Tourette syndrome: objectives and methods.
Eur Child Adolesc Psychiatry
; 24(2): 141-51, 2015 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-24771252