Detalhe da pesquisa
1.
An Organismal CNV Mutator Phenotype Restricted to Early Human Development.
Cell
; 168(5): 830-842.e7, 2017 02 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-28235197
2.
The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.
Cell
; 167(5): 1415-1429.e19, 2016 11 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-27863252
3.
GWAS of genetic factors affecting white blood cell morphological parameters in Sardinians uncovers influence of chromosome 11 innate immunity gene cluster on eosinophil morphology.
Hum Mol Genet
; 32(5): 790-797, 2023 02 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-36136759
4.
Whole-exome sequencing identifies rare genetic variants associated with human plasma metabolites.
Am J Hum Genet
; 109(6): 1038-1054, 2022 06 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-35568032
5.
Exome-wide association study to identify rare variants influencing COVID-19 outcomes: Results from the Host Genetics Initiative.
PLoS Genet
; 18(11): e1010367, 2022 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-36327219
6.
Whole-genome sequencing in diverse subjects identifies genetic correlates of leukocyte traits: The NHLBI TOPMed program.
Am J Hum Genet
; 108(10): 1836-1851, 2021 10 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-34582791
7.
The influence of rare variants in circulating metabolic biomarkers.
PLoS Genet
; 16(3): e1008605, 2020 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-32150548
8.
Population-wide copy number variation calling using variant call format files from 6,898 individuals.
Genet Epidemiol
; 44(1): 79-89, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31520489
9.
Effects of adiposity on the human plasma proteome: observational and Mendelian randomisation estimates.
Int J Obes (Lond)
; 45(10): 2221-2229, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34226637
10.
The UK10K project identifies rare variants in health and disease.
Nature
; 526(7571): 82-90, 2015 Oct 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-26367797
11.
Whole-genome sequencing identifies EN1 as a determinant of bone density and fracture.
Nature
; 526(7571): 112-7, 2015 Oct 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-26367794
12.
An integrated map of structural variation in 2,504 human genomes.
Nature
; 526(7571): 75-81, 2015 Oct 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-26432246
13.
Whole-Genome Sequencing Coupled to Imputation Discovers Genetic Signals for Anthropometric Traits.
Am J Hum Genet
; 100(6): 865-884, 2017 Jun 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28552196
14.
Whole-Exome Sequencing Identifies Loci Associated with Blood Cell Traits and Reveals a Role for Alternative GFI1B Splice Variants in Human Hematopoiesis.
Am J Hum Genet
; 99(2): 481-8, 2016 08 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-27486782
15.
Mapping copy number variation by population-scale genome sequencing.
Nature
; 470(7332): 59-65, 2011 Feb 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-21293372
16.
An interactive genome browser of association results from the UK10K cohorts project.
Bioinformatics
; 31(24): 4029-31, 2015 Dec 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-26315906
17.
Origins and functional impact of copy number variation in the human genome.
Nature
; 464(7289): 704-12, 2010 Apr 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-19812545
18.
Estimating genome-wide significance for whole-genome sequencing studies.
Genet Epidemiol
; 38(4): 281-90, 2014 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-24676807
19.
Whole-Exome Sequencing Identifies Loci Associated with Blood Cell Traits and Reveals a Role for Alternative GFI1B Splice Variants in Human Hematopoiesis.
Am J Hum Genet
; 99(3): 785, 2016 09 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27588453
20.
Accurate whole human genome sequencing using reversible terminator chemistry.
Nature
; 456(7218): 53-9, 2008 Nov 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-18987734