Detalhe da pesquisa
1.
An allelic-series rare-variant association test for candidate-gene discovery.
Am J Hum Genet
; 110(8): 1330-1342, 2023 08 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-37494930
2.
Exome sequencing and characterization of 49,960 individuals in the UK Biobank.
Nature
; 586(7831): 749-756, 2020 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-33087929
3.
Pan-ancestry exome-wide association analyses of COVID-19 outcomes in 586,157 individuals.
Am J Hum Genet
; 108(7): 1350-1355, 2021 07 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34115965
4.
Genome-wide association analysis of serum alanine and aspartate aminotransferase, and the modifying effects of BMI in 388k European individuals.
Genet Epidemiol
; 45(6): 664-681, 2021 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-34184762
5.
Profiling and Leveraging Relatedness in a Precision Medicine Cohort of 92,455 Exomes.
Am J Hum Genet
; 102(5): 874-889, 2018 05 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-29727688
6.
Genome-wide Study of Atrial Fibrillation Identifies Seven Risk Loci and Highlights Biological Pathways and Regulatory Elements Involved in Cardiac Development.
Am J Hum Genet
; 102(1): 103-115, 2018 01 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-29290336
7.
A Protein-Truncating HSD17B13 Variant and Protection from Chronic Liver Disease.
N Engl J Med
; 378(12): 1096-1106, 2018 03 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-29562163
8.
Contributions of common genetic variants to risk of schizophrenia among individuals of African and Latino ancestry.
Mol Psychiatry
; 25(10): 2455-2467, 2020 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-31591465
9.
Genetic and Pharmacologic Inactivation of ANGPTL3 and Cardiovascular Disease.
N Engl J Med
; 377(3): 211-221, 2017 07 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-28538136
10.
A polygenic burden of rare disruptive mutations in schizophrenia.
Nature
; 506(7487): 185-90, 2014 Feb 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-24463508
11.
Inactivating Variants in ANGPTL4 and Risk of Coronary Artery Disease.
N Engl J Med
; 374(12): 1123-33, 2016 Mar 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-26933753
12.
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
13.
Cryptic and complex chromosomal aberrations in early-onset neuropsychiatric disorders.
Am J Hum Genet
; 95(4): 454-61, 2014 Oct 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-25279985
14.
CLAMMS: a scalable algorithm for calling common and rare copy number variants from exome sequencing data.
Bioinformatics
; 32(1): 133-5, 2016 Jan 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-26382196
15.
Implication of LRRC4C and DPP6 in neurodevelopmental disorders.
Am J Med Genet A
; 173(2): 395-406, 2017 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-27759917
16.
Association of Rare and Common Variation in the Lipoprotein Lipase Gene With Coronary Artery Disease.
JAMA
; 317(9): 937-946, 2017 03 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-28267856
17.
CNV analysis in a large schizophrenia sample implicates deletions at 16p12.1 and SLC1A1 and duplications at 1p36.33 and CGNL1.
Hum Mol Genet
; 23(6): 1669-76, 2014 Mar 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-24163246
18.
An inherited duplication at the gene p21 Protein-Activated Kinase 7 (PAK7) is a risk factor for psychosis.
Hum Mol Genet
; 23(12): 3316-26, 2014 Jun 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-24474471
19.
INRICH: interval-based enrichment analysis for genome-wide association studies.
Bioinformatics
; 28(13): 1797-9, 2012 Jul 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-22513993
20.
zCall: a rare variant caller for array-based genotyping: genetics and population analysis.
Bioinformatics
; 28(19): 2543-5, 2012 Oct 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-22843986