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.
Genetic associations of protein-coding variants in human disease.
Nature
; 603(7899): 95-102, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-35197637
3.
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
4.
Genome-Wide Association Study Identifies 4 Novel Risk Loci for Small Intestinal Neuroendocrine Tumors Including a Missense Mutation in LGR5.
Gastroenterology
; 165(4): 861-873, 2023 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-37453564
5.
Genomic atlas of the human plasma proteome.
Nature
; 558(7708): 73-79, 2018 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-29875488
6.
The Parkinson's disease-associated gene ITPKB protects against α-synuclein aggregation by regulating ER-to-mitochondria calcium release.
Proc Natl Acad Sci U S A
; 118(1)2021 01 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33443159
7.
Identifying drug targets for neurological and psychiatric disease via genetics and the brain transcriptome.
PLoS Genet
; 17(1): e1009224, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33417599
8.
Phase 1-2 Trial of Antisense Oligonucleotide Tofersen for SOD1 ALS.
N Engl J Med
; 383(2): 109-119, 2020 07 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-32640130
9.
Reduction of TMEM97 increases NPC1 protein levels and restores cholesterol trafficking in Niemann-pick type C1 disease cells.
Hum Mol Genet
; 25(16): 3588-3599, 2016 08 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-27378690
10.
Systematic cell-based phenotyping of missense alleles empowers rare variant association studies: a case for LDLR and myocardial infarction.
PLoS Genet
; 11(2): e1004855, 2015 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-25647241
11.
Impaired antibacterial autophagy links granulomatous intestinal inflammation in Niemann-Pick disease type C1 and XIAP deficiency with NOD2 variants in Crohn's disease.
Gut
; 66(6): 1060-1073, 2017 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-26953272
12.
Altered distribution and function of natural killer cells in murine and human Niemann-Pick disease type C1.
Blood
; 123(1): 51-60, 2014 Jan 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-24235134
13.
RNAi-based functional profiling of loci from blood lipid genome-wide association studies identifies genes with cholesterol-regulatory function.
PLoS Genet
; 9(2): e1003338, 2013.
Artigo
em Inglês
| MEDLINE | ID: mdl-23468663
14.
Transmembrane protein 55B is a novel regulator of cellular cholesterol metabolism.
Arterioscler Thromb Vasc Biol
; 34(9): 1917-23, 2014 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-25035345
15.
Characterization of drug-induced transcriptional modules: towards drug repositioning and functional understanding.
Mol Syst Biol
; 9: 662, 2013.
Artigo
em Inglês
| MEDLINE | ID: mdl-23632384
16.
Genome-wide association analysis in primary sclerosing cholangitis and ulcerative colitis identifies risk loci at GPR35 and TCF4.
Hepatology
; 58(3): 1074-83, 2013 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-22821403
17.
PICALO: principal interaction component analysis for the identification of discrete technical, cell-type, and environmental factors that mediate eQTLs.
Genome Biol
; 25(1): 29, 2024 Jan 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-38254182
18.
Whole-exome sequencing in UK Biobank reveals rare genetic architecture for depression.
Nat Commun
; 15(1): 1755, 2024 Feb 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-38409228
19.
Invariant natural killer T cells are not affected by lysosomal storage in patients with Niemann-Pick disease type C.
Eur J Immunol
; 42(7): 1886-92, 2012 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-22585405
20.
Integrated approaches to functionally characterize novel factors in lipoprotein metabolism.
Curr Opin Lipidol
; 23(2): 104-10, 2012 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-22327609