Detalhe da pesquisa
1.
Large-scale plasma proteomics comparisons through genetics and disease associations.
Nature;
622(7982): 348-358, 2023 Oct.
Artigo
em Inglês
| MEDLINE
| ID: mdl-37794188
2.
The sequences of 150,119 genomes in the UK Biobank.
Nature;
607(7920): 732-740, 2022 07.
Artigo
em Inglês
| MEDLINE
| ID: mdl-35859178
3.
Actionable Genotypes and Their Association with Life Span in Iceland.
N Engl J Med;
389(19): 1741-1752, 2023 Nov 09.
Artigo
em Inglês
| MEDLINE
| ID: mdl-37937776
4.
Author Correction: Large-scale plasma proteomics comparisons through genetics and disease associations.
Nature;
2024 May 22.
Artigo
em Inglês
| MEDLINE
| ID: mdl-38778117
5.
Multiomics analysis of rheumatoid arthritis yields sequence variants that have large effects on risk of the seropositive subset.
Ann Rheum Dis;
81(8): 1085-1095, 2022 08.
Artigo
em Inglês
| MEDLINE
| ID: mdl-35470158
6.
Clonal hematopoiesis, with and without candidate driver mutations, is common in the elderly.
Blood;
130(6): 742-752, 2017 08 10.
Artigo
em Inglês
| MEDLINE
| ID: mdl-28483762
7.
Insertion of an SVA-E retrotransposon into the CASP8 gene is associated with protection against prostate cancer.
Hum Mol Genet;
25(5): 1008-18, 2016 Mar 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-26740556
8.
Rate of de novo mutations and the importance of father's age to disease risk.
Nature;
488(7412): 471-5, 2012 Aug 23.
Artigo
em Inglês
| MEDLINE
| ID: mdl-22914163
9.
A frameshift deletion in the sarcomere gene MYL4 causes early-onset familial atrial fibrillation.
Eur Heart J;
38(1): 27-34, 2017 01 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-27742809
10.
GORpipe: a query tool for working with sequence data based on a Genomic Ordered Relational (GOR) architecture.
Bioinformatics;
32(20): 3081-3088, 2016 10 15.
Artigo
em Inglês
| MEDLINE
| ID: mdl-27339714
11.
Compound heterozygous mutations in UBA5 causing early-onset epileptic encephalopathy in two sisters.
BMC Med Genet;
18(1): 103, 2017 10 02.
Artigo
em Inglês
| MEDLINE
| ID: mdl-28965491
12.
Germline sequence variants in TGM3 and RGS22 confer risk of basal cell carcinoma.
Hum Mol Genet;
23(11): 3045-53, 2014 Jun 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-24403052
13.
Genome-wide association study yields variants at 20p12.2 that associate with urinary bladder cancer.
Hum Mol Genet;
23(20): 5545-57, 2014 Oct 15.
Artigo
em Inglês
| MEDLINE
| ID: mdl-24861552
14.
Fine-scale recombination rate differences between sexes, populations and individuals.
Nature;
467(7319): 1099-103, 2010 Oct 28.
Artigo
em Inglês
| MEDLINE
| ID: mdl-20981099
15.
Common variants on chromosomes 2q35 and 16q12 confer susceptibility to estrogen receptor-positive breast cancer.
Nat Genet;
39(7): 865-9, 2007 Jul.
Artigo
em Inglês
| MEDLINE
| ID: mdl-17529974
16.
Parental origin of sequence variants associated with complex diseases.
Nature;
462(7275): 868-74, 2009 Dec 17.
Artigo
em Inglês
| MEDLINE
| ID: mdl-20016592
17.
Sequence variants at CYP1A1-CYP1A2 and AHR associate with coffee consumption.
Hum Mol Genet;
20(10): 2071-7, 2011 May 15.
Artigo
em Inglês
| MEDLINE
| ID: mdl-21357676
18.
Ancestry-shift refinement mapping of the C6orf97-ESR1 breast cancer susceptibility locus.
PLoS Genet;
6(7): e1001029, 2010 Jul 22.
Artigo
em Inglês
| MEDLINE
| ID: mdl-20661439
19.
A high-resolution recombination map of the human genome.
Nat Genet;
31(3): 241-7, 2002 Jul.
Artigo
em Inglês
| MEDLINE
| ID: mdl-12053178
20.
Sequence variants affecting voice pitch in humans.
Sci Adv;
9(23): eabq2969, 2023 06 09.
Artigo
em Inglês
| MEDLINE
| ID: mdl-37294764