Detalhe da pesquisa
1.
Heterozygous deletion of the autism-associated gene CHD8 impairs synaptic function through widespread changes in gene expression and chromatin compaction.
Am J Hum Genet
; 110(10): 1750-1768, 2023 10 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-37802044
2.
Damaging de novo mutations diminish motor skills in children on the autism spectrum.
Proc Natl Acad Sci U S A
; 115(8): E1859-E1866, 2018 02 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-29434036
3.
N-terminal variant Asp14Asn of the human p70 S6 Kinase 1 enhances translational signaling causing different effects in developing and mature neuronal cells.
Neurobiol Learn Mem
; 171: 107203, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-32147585
4.
The role of de novo mutations in the genetics of autism spectrum disorders.
Nat Rev Genet
; 15(2): 133-41, 2014 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-24430941
5.
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
6.
Measuring shared variants in cohorts of discordant siblings with applications to autism.
Proc Natl Acad Sci U S A
; 114(27): 7073-7076, 2017 07 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-28630308
7.
Genome Sequencing of Autism-Affected Families Reveals Disruption of Putative Noncoding Regulatory DNA.
Am J Hum Genet
; 98(1): 58-74, 2016 Jan 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-26749308
8.
Low load for disruptive mutations in autism genes and their biased transmission.
Proc Natl Acad Sci U S A
; 112(41): E5600-7, 2015 Oct 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-26401017
9.
Accurate de novo and transmitted indel detection in exome-capture data using microassembly.
Nat Methods
; 11(10): 1033-6, 2014 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-25128977
10.
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
11.
Target-independent prediction of drug synergies using only drug lipophilicity.
J Chem Inf Model
; 54(8): 2286-93, 2014 Aug 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-25026390
12.
The Genotype and Phenotypes in Families (GPF) platform manages the large and complex data at SFARI.
bioRxiv
; 2024 Feb 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-38370639
13.
Sharing parental genomes by siblings concordant or discordant for autism.
Cell Genom
; 3(6): 100319, 2023 Jun 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-37388917
14.
Genetic control of mRNA splicing as a potential mechanism for incomplete penetrance of rare coding variants.
bioRxiv
; 2023 Jan 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-36778406
15.
Genetic control of mRNA splicing as a potential mechanism for incomplete penetrance of rare coding variants.
Genetics
; 224(4)2023 08 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-37348055
16.
Rates of contributory de novo mutation in high and low-risk autism families.
Commun Biol
; 4(1): 1026, 2021 09 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34471188
17.
Figure mining for biomedical research.
Bioinformatics
; 25(16): 2082-4, 2009 Aug 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-19439564
18.
Looking at cerebellar malformations through text-mined interactomes of mice and humans.
PLoS Comput Biol
; 5(11): e1000559, 2009 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-19893633
19.
De novo variants in FBXO11 cause a syndromic form of intellectual disability with behavioral problems and dysmorphisms.
Eur J Hum Genet
; 27(5): 738-746, 2019 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-30679813
20.
Modified penetrance of coding variants by cis-regulatory variation contributes to disease risk.
Nat Genet
; 50(9): 1327-1334, 2018 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-30127527