Detalhe da pesquisa
1.
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
2.
Transcript expression-aware annotation improves rare variant interpretation.
Nature
; 581(7809): 452-458, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-32461655
3.
PHD3 Loss in Cancer Enables Metabolic Reliance on Fatty Acid Oxidation via Deactivation of ACC2.
Mol Cell
; 63(6): 1006-20, 2016 09 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-27635760
4.
Author Correction: Transcript expression-aware annotation improves rare variant interpretation.
Nature
; 590(7846): E54, 2021 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-33536626
5.
Quantifying the Impact of Rare and Ultra-rare Coding Variation across the Phenotypic Spectrum.
Am J Hum Genet
; 102(6): 1204-1211, 2018 06 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-29861106
6.
Defective respiration and one-carbon metabolism contribute to impaired naïve T cell activation in aged mice.
Proc Natl Acad Sci U S A
; 115(52): 13347-13352, 2018 12 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-30530686
7.
Identification of moderate effect size genes in autism spectrum disorder through a novel gene pairing approach.
medRxiv
; 2024 Apr 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-38633780
8.
From sirtuin biology to human diseases: an update.
J Biol Chem
; 287(51): 42444-52, 2012 Dec 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-23086954
9.
Landscape of mSWI/SNF chromatin remodeling complex perturbations in neurodevelopmental disorders.
Nat Genet
; 55(8): 1400-1412, 2023 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37500730
10.
Genome-wide analyses of ADHD identify 27 risk loci, refine the genetic architecture and implicate several cognitive domains.
Nat Genet
; 55(2): 198-208, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36702997
11.
Using our brains to develop better policy.
Risk Anal
; 32(3): 374-80, 2012 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-22023503
12.
Differences in the genetic architecture of common and rare variants in childhood, persistent and late-diagnosed attention-deficit hyperactivity disorder.
Nat Genet
; 54(8): 1117-1124, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35927488
13.
The female protective effect against autism spectrum disorder.
Cell Genom
; 2(6): 100134, 2022 Jun 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-36778135
14.
Rare coding variation provides insight into the genetic architecture and phenotypic context of autism.
Nat Genet
; 54(9): 1320-1331, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35982160
15.
Prevalence and phenotypic impact of rare potentially damaging variants in autism spectrum disorder.
Mol Autism
; 12(1): 65, 2021 10 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-34615535
16.
Autism spectrum disorder and attention deficit hyperactivity disorder have a similar burden of rare protein-truncating variants.
Nat Neurosci
; 22(12): 1961-1965, 2019 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31768057
17.
Discovery of the first genome-wide significant risk loci for attention deficit/hyperactivity disorder.
Nat Genet
; 51(1): 63-75, 2019 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30478444
18.
Nanotoxicology and nanomedicine: making hard decisions.
Nanomedicine
; 4(2): 167-71, 2008 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-18329962
19.
Small-Molecule Screen Identifies De Novo Nucleotide Synthesis as a Vulnerability of Cells Lacking SIRT3.
Cell Rep
; 22(8): 1945-1955, 2018 02 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-29466723
20.
Author Correction: Genome-wide analyses of ADHD identify 27 risk loci, refine the genetic architecture and implicate several cognitive domains.
Nat Genet
; 55(4): 730, 2023 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-36859734