Search details
1.
Large-scale plasma proteomics comparisons through genetics and disease associations.
Nature
; 622(7982): 348-358, 2023 Oct.
Article
in English
| MEDLINE | ID: mdl-37794188
2.
The sequences of 150,119 genomes in the UK Biobank.
Nature
; 607(7920): 732-740, 2022 07.
Article
in English
| 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.
Article
in English
| MEDLINE | ID: mdl-37937776
4.
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.
Article
in English
| MEDLINE | ID: mdl-35470158
5.
Clonal hematopoiesis, with and without candidate driver mutations, is common in the elderly.
Blood
; 130(6): 742-752, 2017 08 10.
Article
in English
| MEDLINE | ID: mdl-28483762
6.
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.
Article
in English
| MEDLINE | ID: mdl-26740556
7.
Rate of de novo mutations and the importance of father's age to disease risk.
Nature
; 488(7412): 471-5, 2012 Aug 23.
Article
in English
| MEDLINE | ID: mdl-22914163
8.
A frameshift deletion in the sarcomere gene MYL4 causes early-onset familial atrial fibrillation.
Eur Heart J
; 38(1): 27-34, 2017 01 01.
Article
in English
| MEDLINE | ID: mdl-27742809
9.
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.
Article
in English
| MEDLINE | ID: mdl-27339714
10.
Compound heterozygous mutations in UBA5 causing early-onset epileptic encephalopathy in two sisters.
BMC Med Genet
; 18(1): 103, 2017 10 02.
Article
in English
| MEDLINE | ID: mdl-28965491
11.
Germline sequence variants in TGM3 and RGS22 confer risk of basal cell carcinoma.
Hum Mol Genet
; 23(11): 3045-53, 2014 Jun 01.
Article
in English
| MEDLINE | ID: mdl-24403052
12.
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.
Article
in English
| MEDLINE | ID: mdl-24861552
13.
Fine-scale recombination rate differences between sexes, populations and individuals.
Nature
; 467(7319): 1099-103, 2010 Oct 28.
Article
in English
| MEDLINE | ID: mdl-20981099
14.
Common variants on chromosomes 2q35 and 16q12 confer susceptibility to estrogen receptor-positive breast cancer.
Nat Genet
; 39(7): 865-9, 2007 Jul.
Article
in English
| MEDLINE | ID: mdl-17529974
15.
Parental origin of sequence variants associated with complex diseases.
Nature
; 462(7275): 868-74, 2009 Dec 17.
Article
in English
| MEDLINE | ID: mdl-20016592
16.
Sequence variants at CYP1A1-CYP1A2 and AHR associate with coffee consumption.
Hum Mol Genet
; 20(10): 2071-7, 2011 May 15.
Article
in English
| MEDLINE | ID: mdl-21357676
17.
Ancestry-shift refinement mapping of the C6orf97-ESR1 breast cancer susceptibility locus.
PLoS Genet
; 6(7): e1001029, 2010 Jul 22.
Article
in English
| MEDLINE | ID: mdl-20661439
18.
A high-resolution recombination map of the human genome.
Nat Genet
; 31(3): 241-7, 2002 Jul.
Article
in English
| MEDLINE | ID: mdl-12053178
19.
Sequence variants affecting voice pitch in humans.
Sci Adv
; 9(23): eabq2969, 2023 06 09.
Article
in English
| MEDLINE | ID: mdl-37294764
20.
Genetics and epidemiology of mutational barcode-defined clonal hematopoiesis.
Nat Genet
; 55(12): 2149-2159, 2023 Dec.
Article
in English
| MEDLINE | ID: mdl-37932435