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.
Analysis of protein-coding genetic variation in 60,706 humans.
Nature
; 536(7616): 285-91, 2016 08 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-27535533
4.
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
5.
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
6.
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
7.
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
8.
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
9.
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
10.
Runs of homozygosity implicate autozygosity as a schizophrenia risk factor.
PLoS Genet
; 8(4): e1002656, 2012.
Artigo
em Inglês
| MEDLINE | ID: mdl-22511889
11.
Blended Genome Exome (BGE) as a Cost Efficient Alternative to Deep Whole Genomes or Arrays.
bioRxiv
; 2024 Apr 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-38645052
12.
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
13.
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
14.
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
15.
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
16.
Human genetic analyses of organelles highlight the nucleus in age-related trait heritability.
Elife
; 102021 09 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34467851
17.
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
18.
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
19.
Joint Contributions of Rare Copy Number Variants and Common SNPs to Risk for Schizophrenia.
Am J Psychiatry
; 176(1): 29-35, 2019 01 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30392412
20.
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