Detalhe da pesquisa
1.
Developmental and temporal characteristics of clonal sperm mosaicism.
Cell;
184(18): 4772-4783.e15, 2021 09 02.
Artigo
em Inglês
| MEDLINE
| ID: mdl-34388390
2.
Getting to the Cores of Autism.
Cell;
178(6): 1287-1298, 2019 09 05.
Artigo
em Inglês
| MEDLINE
| ID: mdl-31491383
3.
CNVs: harbingers of a rare variant revolution in psychiatric genetics.
Cell;
148(6): 1223-41, 2012 Mar 16.
Artigo
em Inglês
| MEDLINE
| ID: mdl-22424231
4.
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
5.
Customized de novo mutation detection for any variant calling pipeline: SynthDNM.
Bioinformatics;
37(20): 3640-3641, 2021 Oct 25.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33821956
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.
The effects of common structural variants on 3D chromatin structure.
BMC Genomics;
21(1): 95, 2020 Jan 30.
Artigo
em Inglês
| MEDLINE
| ID: mdl-32000688
9.
Identifying schizophrenia patients who carry pathogenic genetic copy number variants using standard clinical assessment: retrospective cohort study.
Br J Psychiatry;
216(5): 275-279, 2020 05.
Artigo
em Inglês
| MEDLINE
| ID: mdl-31964429
10.
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
11.
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
12.
SV2: accurate structural variation genotyping and de novo mutation detection from whole genomes.
Bioinformatics;
34(10): 1774-1777, 2018 05 15.
Artigo
em Inglês
| MEDLINE
| ID: mdl-29300834
13.
Marker chromosome genomic structure and temporal origin implicate a chromoanasynthesis event in a family with pleiotropic psychiatric phenotypes.
Hum Mutat;
39(7): 939-946, 2018 07.
Artigo
em Inglês
| MEDLINE
| ID: mdl-29696747
14.
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
15.
FOXP1-related intellectual disability syndrome: a recognisable entity.
J Med Genet;
54(9): 613-623, 2017 09.
Artigo
em Inglês
| MEDLINE
| ID: mdl-28735298
16.
From de novo mutations to personalized therapeutic interventions in autism.
Annu Rev Med;
66: 487-507, 2015.
Artigo
em Inglês
| MEDLINE
| ID: mdl-25587659
17.
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
18.
Modelling schizophrenia using human induced pluripotent stem cells.
Nature;
473(7346): 221-5, 2011 May 12.
Artigo
em Inglês
| MEDLINE
| ID: mdl-21490598
19.
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
20.
Mapping copy number variation by population-scale genome sequencing.
Nature;
470(7332): 59-65, 2011 Feb 03.
Artigo
em Inglês
| MEDLINE
| ID: mdl-21293372