Detalhe da pesquisa
1.
Plasma proteomic associations with genetics and health in the UK Biobank.
Nature
; 622(7982): 329-338, 2023 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-37794186
2.
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
3.
Variant ASGR1 Associated with a Reduced Risk of Coronary Artery Disease.
N Engl J Med
; 374(22): 2131-41, 2016 Jun 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-27192541
4.
Treatment response and neurofilament light chain levels with long-term patisiran in hereditary transthyretin-mediated amyloidosis with polyneuropathy: 24-month results of an open-label extension study.
Amyloid
; 31(1): 1-11, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-37469249
5.
Transcript-aware analysis of rare predicted loss-of-function variants in the UK Biobank elucidate new isoform-trait associations.
Pac Symp Biocomput
; 29: 247-260, 2024.
Artigo
em Inglês
| MEDLINE | ID: mdl-38160284
6.
Blood pressure-independent renoprotective effects of small interference RNA targeting liver angiotensinogen in experimental diabetes.
Br J Pharmacol
; 180(1): 80-93, 2023 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-36106615
7.
Rare coding variants in DNA damage repair genes associated with timing of natural menopause.
HGG Adv
; 3(2): 100079, 2022 Apr 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-35493704
8.
Conventional Vasopressor and Vasopressor-Sparing Strategies to Counteract the Blood Pressure-Lowering Effect of Small Interfering RNA Targeting Angiotensinogen.
J Am Heart Assoc
; 11(15): e026426, 2022 08 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-35876413
9.
Rare loss of function variants in the hepatokine gene INHBE protect from abdominal obesity.
Nat Commun
; 13(1): 4319, 2022 07 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-35896531
10.
Gene-level analysis of rare variants in 379,066 whole exome sequences identifies an association of GIGYF1 loss of function with type 2 diabetes.
Sci Rep
; 11(1): 21565, 2021 11 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34732801
11.
Neurofilament Light Chain as a Biomarker of Hereditary Transthyretin-Mediated Amyloidosis.
Neurology
; 96(3): e412-e422, 2021 01 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-33087494
12.
GWAS of serum ALT and AST reveals an association of SLC30A10 Thr95Ile with hypermanganesemia symptoms.
Nat Commun
; 12(1): 4571, 2021 07 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-34315874
13.
Association of the transthyretin variant V122I with polyneuropathy among individuals of African ancestry.
Sci Rep
; 11(1): 11645, 2021 06 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34079032
14.
Advancing human genetics research and drug discovery through exome sequencing of the UK Biobank.
Nat Genet
; 53(7): 942-948, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-34183854
15.
Transthyretin-stabilising mutation T119M is not associated with protection against vascular disease or death in the UK Biobank.
Amyloid
; 27(3): 184-190, 2020 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-32425064
16.
Characterising a healthy adult with a rare HAO1 knockout to support a therapeutic strategy for primary hyperoxaluria.
Elife
; 92020 03 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-32207686
17.
Phenotypes associated with genes encoding drug targets are predictive of clinical trial side effects.
Nat Commun
; 10(1): 1579, 2019 04 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-30952858
18.
Author Correction: Phenotypes associated with genes encoding drug targets are predictive of clinical trial side effects.
Nat Commun
; 10(1): 2132, 2019 May 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-31068582
19.
Rationalizing Secondary Pharmacology Screening Using Human Genetic and Pharmacological Evidence.
Toxicol Sci
; 167(2): 593-603, 2019 02 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30346593
20.
The carboxy-terminal Neh3 domain of Nrf2 is required for transcriptional activation.
Mol Cell Biol
; 25(24): 10895-906, 2005 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-16314513