Detalhe da pesquisa
1.
Getting to the Cores of Autism.
Cell
; 178(6): 1287-1298, 2019 09 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-31491383
2.
Widespread Expansion of Protein Interaction Capabilities by Alternative Splicing.
Cell
; 164(4): 805-17, 2016 02 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-26871637
3.
Whole-genome sequencing in autism identifies hot spots for de novo germline mutation.
Cell
; 151(7): 1431-42, 2012 Dec 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-23260136
4.
A protein domain-based interactome network for C. elegans early embryogenesis.
Cell
; 134(3): 534-45, 2008 Aug 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-18692475
5.
Prioritizing de novo autism risk variants with calibrated gene- and variant-scoring models.
Hum Genet
; 141(10): 1595-1613, 2022 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-34549350
6.
Autism-linked Cullin3 germline haploinsufficiency impacts cytoskeletal dynamics and cortical neurogenesis through RhoA signaling.
Mol Psychiatry
; 26(7): 3586-3613, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33727673
7.
Cortical organoids model early brain development disrupted by 16p11.2 copy number variants in autism.
Mol Psychiatry
; 26(12): 7560-7580, 2021 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-34433918
8.
Pathogenicity and functional impact of non-frameshifting insertion/deletion variation in the human genome.
PLoS Comput Biol
; 15(6): e1007112, 2019 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-31199787
9.
Frequency and Complexity of De Novo Structural Mutation in Autism.
Am J Hum Genet
; 98(4): 667-79, 2016 Apr 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-27018473
10.
When loss-of-function is loss of function: assessing mutational signatures and impact of loss-of-function genetic variants.
Bioinformatics
; 33(14): i389-i398, 2017 Jul 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-28882004
11.
Correction: Cortical organoids model early brain development disrupted by 16p11.2 copy number variants in autism.
Mol Psychiatry
; 26(12): 7581, 2021 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-34548630
12.
Duplications of the neuropeptide receptor gene VIPR2 confer significant risk for schizophrenia.
Nature
; 471(7339): 499-503, 2011 Mar 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-21346763
13.
Mapping copy number variation by population-scale genome sequencing.
Nature
; 470(7332): 59-65, 2011 Feb 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-21293372
14.
Predicted disorder-to-order transition mutations in IκBα disrupt function.
Phys Chem Chem Phys
; 16(14): 6480-5, 2014 Apr 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-24605363
15.
Disease-associated mutations disrupt functionally important regions of intrinsic protein disorder.
PLoS Comput Biol
; 8(10): e1002709, 2012.
Artigo
em Inglês
| MEDLINE | ID: mdl-23055912
16.
Therapeutic strategies for autism: targeting three levels of the central dogma of molecular biology.
Transl Psychiatry
; 13(1): 58, 2023 02 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-36792602
17.
How PTEN mutations degrade function at the membrane and life expectancy of carriers of mutations in the human brain.
bioRxiv
; 2023 Jan 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-36747841
18.
Cancer and Autism: How PTEN Mutations Degrade Function at the Membrane and Isoform Expression in the Human Brain.
J Mol Biol
; 435(24): 168354, 2023 12 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-37935253
19.
Multi-objective prioritization of genes for high-throughput functional assays towards improved clinical variant classification.
Pac Symp Biocomput
; 28: 323-334, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-36540988
20.
A phenotypic spectrum of autism is attributable to the combined effects of rare variants, polygenic risk and sex.
Nat Genet
; 54(9): 1284-1292, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35654974