Detalhe da pesquisa
1.
Plasma proteomic associations with genetics and health in the UK Biobank.
Nature
; 622(7982): 329-338, 2023 Oct.
Artigo
Inglês
| MEDLINE | ID: mdl-37794186
2.
Activin E is a transforming growth factor ß ligand that signals specifically through activin receptor-like kinase 7.
Biochem J
; 481(7): 547-564, 2024 Apr 10.
Artigo
Inglês
| MEDLINE | ID: mdl-38533769
3.
Sequence variants associating with urinary biomarkers.
Hum Mol Genet
; 28(7): 1199-1211, 2019 04 01.
Artigo
Inglês
| MEDLINE | ID: mdl-30476138
4.
Nonclinical cardiovascular safety evaluation of romosozumab, an inhibitor of sclerostin for the treatment of osteoporosis in postmenopausal women at high risk of fracture.
Regul Toxicol Pharmacol
; 115: 104697, 2020 Aug.
Artigo
Inglês
| MEDLINE | ID: mdl-32590049
5.
CpG islands and the regulation of transcription.
Genes Dev
; 25(10): 1010-22, 2011 May 15.
Artigo
Inglês
| MEDLINE | ID: mdl-21576262
6.
A unique DNA methylation signature defines a population of IFN-γ/IL-4 double-positive T cells during helminth infection.
Eur J Immunol
; 44(6): 1835-41, 2014 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-24578067
7.
Cell type-specific DNA methylation at intragenic CpG islands in the immune system.
Genome Res
; 21(7): 1074-86, 2011 Jul.
Artigo
Inglês
| MEDLINE | ID: mdl-21628449
8.
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
Inglês
| MEDLINE | ID: mdl-38160284
9.
Multiplexed Illumina sequencing libraries from picogram quantities of DNA.
BMC Genomics
; 14: 466, 2013 Jul 09.
Artigo
Inglês
| MEDLINE | ID: mdl-23837789
10.
Using human genetics to improve safety assessment of therapeutics.
Nat Rev Drug Discov
; 22(2): 145-162, 2023 02.
Artigo
Inglês
| MEDLINE | ID: mdl-36261593
11.
Advancing diagnosis and management of liver disease in adults through exome sequencing.
EBioMedicine
; 95: 104747, 2023 Sep.
Artigo
Inglês
| MEDLINE | ID: mdl-37566928
12.
Human gain-of-function variants in HNF1A confer protection from diabetes but independently increase hepatic secretion of atherogenic lipoproteins.
Cell Genom
; 3(7): 100339, 2023 Jul 12.
Artigo
Inglês
| MEDLINE | ID: mdl-37492105
13.
Rare coding variants in DNA damage repair genes associated with timing of natural menopause.
HGG Adv
; 3(2): 100079, 2022 Apr 14.
Artigo
Inglês
| MEDLINE | ID: mdl-35493704
14.
Rare loss of function variants in the hepatokine gene INHBE protect from abdominal obesity.
Nat Commun
; 13(1): 4319, 2022 07 27.
Artigo
Inglês
| MEDLINE | ID: mdl-35896531
15.
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
Inglês
| MEDLINE | ID: mdl-34732801
16.
GWAS of serum ALT and AST reveals an association of SLC30A10 Thr95Ile with hypermanganesemia symptoms.
Nat Commun
; 12(1): 4571, 2021 07 27.
Artigo
Inglês
| MEDLINE | ID: mdl-34315874
17.
Association of the transthyretin variant V122I with polyneuropathy among individuals of African ancestry.
Sci Rep
; 11(1): 11645, 2021 06 02.
Artigo
Inglês
| MEDLINE | ID: mdl-34079032
18.
Specificity of Atonal and Scute bHLH factors: analysis of cognate E box binding sites and the influence of Senseless.
Genes Cells
; 13(9): 915-29, 2008 Sep.
Artigo
Inglês
| MEDLINE | ID: mdl-18681894
19.
Phenotypes associated with genes encoding drug targets are predictive of clinical trial side effects.
Nat Commun
; 10(1): 1579, 2019 04 05.
Artigo
Inglês
| MEDLINE | ID: mdl-30952858
20.
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
Inglês
| MEDLINE | ID: mdl-31068582