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.
AAV-mediated hepatic expression of SLC30A10 and the Thr95Ile variant attenuates manganese excess and other phenotypes in Slc30a10-deficient mice.
J Biol Chem
; 300(3): 105732, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-38336290
3.
Systematic protein location mapping reveals five principal chromatin types in Drosophila cells.
Cell
; 143(2): 212-24, 2010 Oct 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-20888037
4.
Parental influence on human germline de novo mutations in 1,548 trios from Iceland.
Nature
; 549(7673): 519-522, 2017 09 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-28959963
5.
Integrative analysis of 111 reference human epigenomes.
Nature
; 518(7539): 317-30, 2015 Feb 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-25693563
6.
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
em Inglês
| MEDLINE | ID: mdl-32590049
7.
HaploReg v4: systematic mining of putative causal variants, cell types, regulators and target genes for human complex traits and disease.
Nucleic Acids Res
; 44(D1): D877-81, 2016 Jan 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-26657631
8.
Mapping and analysis of chromatin state dynamics in nine human cell types.
Nature
; 473(7345): 43-9, 2011 May 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-21441907
9.
A high-resolution map of human evolutionary constraint using 29 mammals.
Nature
; 478(7370): 476-82, 2011 Oct 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-21993624
10.
Defining functional DNA elements in the human genome.
Proc Natl Acad Sci U S A
; 111(17): 6131-8, 2014 Apr 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-24753594
11.
Characterizing a collective and dynamic component of chromatin immunoprecipitation enrichment profiles in yeast.
BMC Genomics
; 15: 494, 2014 Jun 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-24947676
12.
HaploReg: a resource for exploring chromatin states, conservation, and regulatory motif alterations within sets of genetically linked variants.
Nucleic Acids Res
; 40(Database issue): D930-4, 2012 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-22064851
13.
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
14.
Using human genetics to improve safety assessment of therapeutics.
Nat Rev Drug Discov
; 22(2): 145-162, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36261593
15.
Advancing diagnosis and management of liver disease in adults through exome sequencing.
EBioMedicine
; 95: 104747, 2023 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-37566928
16.
Reply to Brunet and Doolittle: Both selected effect and causal role elements can influence human biology and disease.
Proc Natl Acad Sci U S A
; 111(33): E3366, 2014 Aug 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-25275169
17.
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
18.
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
19.
A proteomic platform to identify off-target proteins associated with therapeutic modalities that induce protein degradation or gene silencing.
Sci Rep
; 11(1): 15856, 2021 08 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-34349202
20.
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