Detalhe da pesquisa
1.
Rare variant associations with plasma protein levels in the UK Biobank.
Nature
; 622(7982): 339-347, 2023 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-37794183
2.
Rare variant contribution to human disease in 281,104 UK Biobank exomes.
Nature
; 597(7877): 527-532, 2021 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-34375979
3.
Effects of protein-coding variants on blood metabolite measurements and clinical biomarkers in the UK Biobank.
Am J Hum Genet
; 110(3): 487-498, 2023 03 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36809768
4.
Gene-SCOUT: identifying genes with similar continuous trait fingerprints from phenome-wide association analyses.
Nucleic Acids Res
; 50(8): 4289-4301, 2022 05 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-35474393
5.
Protective alleles and modifier variants in human health and disease.
Nat Rev Genet
; 16(12): 689-701, 2015 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-26503796
6.
Incremental value of left atrial booster and reservoir strain in predicting atrial fibrillation in patients with hypertrophic cardiomyopathy: a cardiovascular magnetic resonance study.
J Cardiovasc Magn Reson
; 23(1): 109, 2021 10 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34635131
7.
Analysis of 51 proposed hypertrophic cardiomyopathy genes from genome sequencing data in sarcomere negative cases has negligible diagnostic yield.
Genet Med
; 21(7): 1576-1584, 2019 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-30531895
8.
Resistance of Dynamin-related Protein 1 Oligomers to Disassembly Impairs Mitophagy, Resulting in Myocardial Inflammation and Heart Failure.
J Biol Chem
; 290(43): 25907-19, 2015 10 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-26370078
9.
Phenome-wide identification of therapeutic genetic targets, leveraging knowledge graphs, graph neural networks, and UK Biobank data.
Sci Adv
; 10(19): eadj1424, 2024 May 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-38718126
10.
Platelet function monitoring and clopidogrel.
Curr Cardiol Rep
; 15(1): 321, 2013 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-23250658
11.
Remote monitoring for heart failure: the story moves on.
Eur Heart J
; 38(5): 310-311, 2017 02 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29117334
12.
Genome-Wide Analysis of Left Ventricular Maximum Wall Thickness in the UK Biobank Cohort Reveals a Shared Genetic Background With Hypertrophic Cardiomyopathy.
Circ Genom Precis Med
; 16(1): e003716, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36598836
13.
Genetic Determinants of the Interventricular Septum Are Linked to Ventricular Septal Defects and Hypertrophic Cardiomyopathy.
Circ Genom Precis Med
; 16(3): 207-215, 2023 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-37017090
14.
Large scale genome-wide association analyses identify novel genetic loci and mechanisms in hypertrophic cardiomyopathy.
medRxiv
; 2023 Feb 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36778260
15.
Genetic architecture of spatial electrical biomarkers for cardiac arrhythmia and relationship with cardiovascular disease.
Nat Commun
; 14(1): 1411, 2023 03 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-36918541
16.
Resistance of dynamin-related protein 1 oligomers to disassembly impairs mitophagy, resulting in myocardial inflammation and heart failure.
J Biol Chem
; 291(49): 25762, 2016 12 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-27913663
17.
DrugnomeAI is an ensemble machine-learning framework for predicting druggability of candidate drug targets.
Commun Biol
; 5(1): 1291, 2022 11 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-36434048
18.
Cancer-driving mutations are enriched in genic regions intolerant to germline variation.
Sci Adv
; 8(34): eabo6371, 2022 08 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-36026442
19.
Human genetics uncovers MAP3K15 as an obesity-independent therapeutic target for diabetes.
Sci Adv
; 8(46): eadd5430, 2022 11 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-36383675
20.
Common genetic variants and modifiable risk factors underpin hypertrophic cardiomyopathy susceptibility and expressivity.
Nat Genet
; 53(2): 135-142, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33495597