Detalhe da pesquisa
1.
The sequences of 150,119 genomes in the UK Biobank.
Nature
; 607(7920): 732-740, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35859178
2.
Genetic variants associated with syncope implicate neural and autonomic processes.
Eur Heart J
; 44(12): 1070-1080, 2023 03 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-36747475
3.
Meta-analysis of erosive hand osteoarthritis identifies four common variants that associate with relatively large effect.
Ann Rheum Dis
; 82(6): 873-880, 2023 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36931692
4.
Oestrogen receptor status, treatment and breast cancer prognosis in Icelandic BRCA2 mutation carriers.
Br J Cancer
; 115(7): 776-83, 2016 09 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-27537391
5.
CARM1 and BAF155: an example of how chromatin remodeling factors can be relocalized and contribute to cancer.
Breast Cancer Res
; 16(3): 307, 2014 May 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-25927994
6.
Epigenetic modifications in breast cancer and their role in personalized medicine.
Am J Pathol
; 183(4): 1052-1063, 2013 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-23899662
7.
A comparison of methods for detecting DNA methylation from long-read sequencing of human genomes.
Genome Biol
; 25(1): 69, 2024 Mar 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-38468278
8.
GWAS meta-analysis reveals key risk loci in essential tremor pathogenesis.
Commun Biol
; 7(1): 504, 2024 Apr 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-38671141
9.
Variants at the Interleukin 1 Gene Locus and Pericarditis.
JAMA Cardiol
; 9(2): 165-172, 2024 Feb 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-38150231
10.
DNA methylation profiling in breast cancer discordant identical twins identifies DOK7 as novel epigenetic biomarker.
Carcinogenesis
; 34(1): 102-8, 2013 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-23054610
11.
Tumour diploidy and survival in breast cancer patients with BRCA2 mutations.
Breast Cancer Res Treat
; 140(2): 375-84, 2013 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-23857704
12.
Sequence variants affecting the genome-wide rate of germline microsatellite mutations.
Nat Commun
; 14(1): 3855, 2023 06 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-37386006
13.
Deficit of homozygosity among 1.52 million individuals and genetic causes of recessive lethality.
Nat Commun
; 14(1): 3453, 2023 06 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-37301908
14.
Pregnancy-Associated Bleeding and Genetics: Five Sequence Variants in the Myometrium and Progesterone Signaling Pathway are associated with postpartum hemorrhage.
medRxiv
; 2023 Aug 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-37645979
15.
Rare variants with large effects provide functional insights into the pathology of migraine subtypes, with and without aura.
Nat Genet
; 55(11): 1843-1853, 2023 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-37884687
16.
Genomic and phenotypic analysis of BRCA2 mutated breast cancers reveals co-occurring changes linked to progression.
Breast Cancer Res
; 13(5): R95, 2011 Sep 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-21958427
17.
Differences between germline genomes of monozygotic twins.
Nat Genet
; 53(1): 27-34, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33414551
18.
Long-read sequencing of 3,622 Icelanders provides insight into the role of structural variants in human diseases and other traits.
Nat Genet
; 53(6): 779-786, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33972781
19.
BRCA1 Promoter Methylation Status in 1031 Primary Breast Cancers Predicts Favorable Outcomes Following Chemotherapy.
JNCI Cancer Spectr
; 4(2): pkz100, 2020 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-32175521
20.
Eighty-eight variants highlight the role of T cell regulation and airway remodeling in asthma pathogenesis.
Nat Commun
; 11(1): 393, 2020 01 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-31959851