Detalhe da pesquisa
1.
Exome sequencing and analysis of 454,787 UK Biobank participants.
Nature
; 599(7886): 628-634, 2021 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34662886
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.
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
5.
The role of FREM2 and FRAS1 in the development of congenital diaphragmatic hernia.
Hum Mol Genet
; 27(12): 2064-2075, 2018 06 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-29618029
6.
FBN1 contributing to familial congenital diaphragmatic hernia.
Am J Med Genet A
; 167A(4): 831-6, 2015 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-25736269
7.
WGSA: an annotation pipeline for human genome sequencing studies.
J Med Genet
; 53(2): 111-2, 2016 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-26395054
8.
Genome-wide analysis provides genetic evidence that ACE2 influences COVID-19 risk and yields risk scores associated with severe disease.
Nat Genet
; 54(4): 382-392, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-35241825
9.
Exome-wide evaluation of rare coding variants using electronic health records identifies new gene-phenotype associations.
Nat Med
; 27(1): 66-72, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33432171
10.
De-epithelialization of porcine tracheal allografts as an approach for tracheal tissue engineering.
Sci Rep
; 9(1): 12034, 2019 08 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-31427611
11.
Genetic architecture of laterality defects revealed by whole exome sequencing.
Eur J Hum Genet
; 27(4): 563-573, 2019 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30622330
12.
Genetics of blood lipids among ~300,000 multi-ethnic participants of the Million Veteran Program.
Nat Genet
; 50(11): 1514-1523, 2018 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-30275531
13.
Whole exome sequencing in 342 congenital cardiac left sided lesion cases reveals extensive genetic heterogeneity and complex inheritance patterns.
Genome Med
; 9(1): 95, 2017 10 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-29089047
14.
Loss-of-function variants influence the human serum metabolome.
Sci Adv
; 2(8): e1600800, 2016 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-27602404
15.
Distribution and clinical impact of functional variants in 50,726 whole-exome sequences from the DiscovEHR study.
Science
; 354(6319)2016 Dec 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-28008009
16.
Association of Rare Loss-Of-Function Alleles in HAL, Serum Histidine: Levels and Incident Coronary Heart Disease.
Circ Cardiovasc Genet
; 8(2): 351-5, 2015 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-25575548
17.
Analysis of loss-of-function variants and 20 risk factor phenotypes in 8,554 individuals identifies loci influencing chronic disease.
Nat Genet
; 47(6): 640-2, 2015 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-25915599
18.
TGFB2 mutations cause familial thoracic aortic aneurysms and dissections associated with mild systemic features of Marfan syndrome.
Nat Genet
; 44(8): 916-21, 2012 Jul 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-22772371