Detalhe da pesquisa
1.
Whole-genome sequencing of a sporadic primary immunodeficiency cohort.
Nature
; 583(7814): 90-95, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32499645
2.
Publisher Correction: Whole-genome sequencing of a sporadic primary immunodeficiency cohort.
Nature
; 584(7819): E2, 2020 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-32678341
3.
Rare and low-frequency coding variants alter human adult height.
Nature
; 542(7640): 186-190, 2017 02 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-28146470
4.
Germline mutations in the transcription factor IKZF5 cause thrombocytopenia.
Blood
; 134(23): 2070-2081, 2019 12 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-31217188
5.
Large-Scale Whole-Genome Sequencing Reveals the Genetic Architecture of Primary Membranoproliferative GN and C3 Glomerulopathy.
J Am Soc Nephrol
; 31(2): 365-373, 2020 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31919107
6.
Next-generation sequencing for the diagnosis of MYH9-RD: Predicting pathogenic variants.
Hum Mutat
; 41(1): 277-290, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31562665
7.
Coding Variation in ANGPTL4, LPL, and SVEP1 and the Risk of Coronary Disease.
N Engl J Med
; 374(12): 1134-44, 2016 03 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-26934567
8.
Analysis with the exome array identifies multiple new independent variants in lipid loci.
Hum Mol Genet
; 25(18): 4094-4106, 2016 09 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-27466198
9.
Altered fibrinolysis in autosomal dominant thrombomodulin-associated coagulopathy.
Blood
; 128(14): 1879-1883, 2016 10 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-27436851
10.
Exome-wide analysis of rare coding variation identifies novel associations with COPD and airflow limitation in MOCS3, IFIT3 and SERPINA12.
Thorax
; 71(6): 501-9, 2016 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-26917578
11.
G protein-coupled receptor kinase 5 regulates thrombin signaling in platelets via PAR-1.
Blood Adv
; 6(7): 2319-2330, 2022 04 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-34581777
12.
A prospective study of risk factors associated with seroprevalence of SARS-CoV-2 antibodies in healthcare workers at a large UK teaching hospital.
J Infect
; 85(5): 557-564, 2022 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-36058413
13.
Coagulation factor V is a T-cell inhibitor expressed by leukocytes in COVID-19.
iScience
; 25(3): 103971, 2022 Mar 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-35224470
14.
Development and validation of a universal blood donor genotyping platform: a multinational prospective study.
Blood Adv
; 4(15): 3495-3506, 2020 08 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32750130
15.
Germline selection shapes human mitochondrial DNA diversity.
Science
; 364(6442)2019 05 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-31123110
16.
Systematic Evaluation of Pleiotropy Identifies 6 Further Loci Associated With Coronary Artery Disease.
J Am Coll Cardiol
; 69(7): 823-836, 2017 Feb 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-28209224
17.
Trans-ancestry meta-analyses identify rare and common variants associated with blood pressure and hypertension.
Nat Genet
; 48(10): 1151-1161, 2016 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-27618447