Detalhe da pesquisa
1.
A cross-disorder dosage sensitivity map of the human genome.
Cell
; 185(16): 3041-3055.e25, 2022 08 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-35917817
2.
Rare coding variants in ten genes confer substantial risk for schizophrenia.
Nature
; 604(7906): 509-516, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-35396579
3.
Whole exome sequencing study identifies novel rare and common Alzheimer's-Associated variants involved in immune response and transcriptional regulation.
Mol Psychiatry
; 25(8): 1859-1875, 2020 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-30108311
4.
Correction: Whole exome sequencing study identifies novel rare and common Alzheimer's-Associated variants involved in immune response and transcriptional regulation.
Mol Psychiatry
; 25(8): 1901-1903, 2020 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-31636380
5.
Epilepsy subtype-specific copy number burden observed in a genome-wide study of 17 458 subjects.
Brain
; 143(7): 2106-2118, 2020 07 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32568404
6.
No Reliable Association between Runs of Homozygosity and Schizophrenia in a Well-Powered Replication Study.
PLoS Genet
; 12(10): e1006343, 2016 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-27792727
7.
Heterogeneous contribution of microdeletions in the development of common generalised and focal epilepsies.
J Med Genet
; 54(9): 598-606, 2017 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-28756411
8.
Genome-Wide Association Study of Behavioral Disinhibition in a Selected Adolescent Sample.
Behav Genet
; 45(4): 375-81, 2015 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-25637581
9.
Runs of homozygosity implicate autozygosity as a schizophrenia risk factor.
PLoS Genet
; 8(4): e1002656, 2012.
Artigo
em Inglês
| MEDLINE | ID: mdl-22511889
10.
Exome sequencing in bipolar disorder identifies AKAP11 as a risk gene shared with schizophrenia.
Nat Genet
; 54(5): 541-547, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35410376
11.
Systematic single-variant and gene-based association testing of thousands of phenotypes in 394,841 UK Biobank exomes.
Cell Genom
; 2(9): 100168, 2022 Sep 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-36778668
12.
Detecting autozygosity through runs of homozygosity: a comparison of three autozygosity detection algorithms.
BMC Genomics
; 12: 460, 2011 Sep 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-21943305
13.
Exome sequencing in schizophrenia-affected parent-offspring trios reveals risk conferred by protein-coding de novo mutations.
Nat Neurosci
; 23(2): 185-193, 2020 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31932770
14.
Publisher Correction: Exome sequencing in amyotrophic lateral sclerosis implicates a novel gene, DNAJC7, encoding a heat-shock protein.
Nat Neurosci
; 23(2): 295, 2020 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-31857710
15.
Paternal-age-related de novo mutations and risk for five disorders.
Nat Commun
; 10(1): 3043, 2019 07 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-31292440
16.
Exome sequencing in amyotrophic lateral sclerosis implicates a novel gene, DNAJC7, encoding a heat-shock protein.
Nat Neurosci
; 22(12): 1966-1974, 2019 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31768050
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.
SynGO: An Evidence-Based, Expert-Curated Knowledge Base for the Synapse.
Neuron
; 103(2): 217-234.e4, 2019 07 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-31171447
19.
Identification of common genetic risk variants for autism spectrum disorder.
Nat Genet
; 51(3): 431-444, 2019 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30804558
20.
Functional equivalence of genome sequencing analysis pipelines enables harmonized variant calling across human genetics projects.
Nat Commun
; 9(1): 4038, 2018 10 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-30279509