Detalhe da pesquisa
1.
Genomic architecture of autism from comprehensive whole-genome sequence annotation.
Cell
; 185(23): 4409-4427.e18, 2022 11 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-36368308
2.
Genome-wide detection of tandem DNA repeats that are expanded in autism.
Nature
; 586(7827): 80-86, 2020 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-32717741
3.
ANK2 loss-of-function variants are associated with epilepsy, and lead to impaired axon initial segment plasticity and hyperactive network activity in hiPSC-derived neuronal networks.
Hum Mol Genet
; 32(14): 2373-2385, 2023 07 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-37195288
4.
CAPRIN1 haploinsufficiency causes a neurodevelopmental disorder with language impairment, ADHD and ASD.
Brain
; 146(2): 534-548, 2023 02 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-35979925
5.
Mutations in trpγ, the homologue of TRPC6 autism candidate gene, causes autism-like behavioral deficits in Drosophila.
Mol Psychiatry
; 27(8): 3328-3342, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35501408
6.
Delineation of a novel neurodevelopmental syndrome associated with PAX5 haploinsufficiency.
Hum Mutat
; 43(4): 461-470, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-35094443
7.
Single-cell transcriptome identifies molecular subtype of autism spectrum disorder impacted by de novo loss-of-function variants regulating glial cells.
Hum Genomics
; 15(1): 68, 2021 11 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-34802461
8.
Segregating patterns of copy number variations in extended autism spectrum disorder (ASD) pedigrees.
Am J Med Genet B Neuropsychiatr Genet
; 183(5): 268-276, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32372567
9.
Convergence of genes and cellular pathways dysregulated in autism spectrum disorders.
Am J Hum Genet
; 94(5): 677-94, 2014 May 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-24768552
10.
Disruption of the ASTN2/TRIM32 locus at 9q33.1 is a risk factor in males for autism spectrum disorders, ADHD and other neurodevelopmental phenotypes.
Hum Mol Genet
; 23(10): 2752-68, 2014 May 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-24381304
11.
Detection of clinically relevant genetic variants in autism spectrum disorder by whole-genome sequencing.
Am J Hum Genet
; 93(2): 249-63, 2013 Aug 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-23849776
12.
Using extended pedigrees to identify novel autism spectrum disorder (ASD) candidate genes.
Hum Genet
; 134(2): 191-201, 2015 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-25432440
13.
Molecular Diagnostic Yield of Chromosomal Microarray Analysis and Whole-Exome Sequencing in Children With Autism Spectrum Disorder.
JAMA
; 314(9): 895-903, 2015 Sep 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-26325558
14.
Individual common variants exert weak effects on the risk for autism spectrum disorders.
Hum Mol Genet
; 21(21): 4781-92, 2012 Nov 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-22843504
15.
Comprehensive whole-genome sequence analyses provide insights into the genomic architecture of cerebral palsy.
Nat Genet
; 56(4): 585-594, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-38553553
16.
Disruption of DDX53 coding sequence has limited impact on iPSC-derived human NGN2 neurons.
BMC Med Genomics
; 16(1): 5, 2023 01 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-36635662
17.
Genetic variants in DDX53 contribute to Autism Spectrum Disorder associated with the Xp22.11 locus.
medRxiv
; 2023 Dec 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-38234782
18.
Analysis of recent shared ancestry in a familial cohort identifies coding and noncoding autism spectrum disorder variants.
NPJ Genom Med
; 7(1): 13, 2022 Feb 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-35190550
19.
Genome-wide rare variant score associates with morphological subtypes of autism spectrum disorder.
Nat Commun
; 13(1): 6463, 2022 10 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-36309498
20.
A recurrent SHANK3 frameshift variant in Autism Spectrum Disorder.
NPJ Genom Med
; 6(1): 91, 2021 Nov 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-34737294