Detalhe da pesquisa
1.
Genome-wide Association Analysis in Humans Links Nucleotide Metabolism to Leukocyte Telomere Length.
Am J Hum Genet
; 106(3): 389-404, 2020 03 05.
Artigo
Inglês
| MEDLINE | ID: mdl-32109421
2.
Genetically determined height and coronary artery disease.
N Engl J Med
; 372(17): 1608-18, 2015 Apr 23.
Artigo
Inglês
| MEDLINE | ID: mdl-25853659
3.
Adult height and risk of 50 diseases: a combined epidemiological and genetic analysis.
BMC Med
; 16(1): 187, 2018 10 25.
Artigo
Inglês
| MEDLINE | ID: mdl-30355295
4.
Prediction of Causal Candidate Genes in Coronary Artery Disease Loci.
Arterioscler Thromb Vasc Biol
; 35(10): 2207-17, 2015 Oct.
Artigo
Inglês
| MEDLINE | ID: mdl-26293461
5.
Screening in silico predicted remotely acting NF1 gene regulatory elements for mutations in patients with neurofibromatosis type 1.
Hum Genomics
; 7: 18, 2013 Aug 15.
Artigo
Inglês
| MEDLINE | ID: mdl-23947441
6.
Genome-wide association meta-analysis of spontaneous coronary artery dissection identifies risk variants and genes related to artery integrity and tissue-mediated coagulation.
Nat Genet
; 55(6): 964-972, 2023 06.
Artigo
Inglês
| MEDLINE | ID: mdl-37248441
7.
A meta-analysis of single base-pair substitutions in translational termination codons ('nonstop' mutations) that cause human inherited disease.
Hum Genomics
; 5(4): 241-64, 2011 May.
Artigo
Inglês
| MEDLINE | ID: mdl-21712188
8.
Contribution of NOTCH1 genetic variants to bicuspid aortic valve and other congenital lesions.
Heart
; 108(14): 1114-1120, 2022 06 24.
Artigo
Inglês
| MEDLINE | ID: mdl-35288444
9.
Exploring the Genetic Architecture of Spontaneous Coronary Artery Dissection Using Whole-Genome Sequencing.
Circ Genom Precis Med
; 15(4): e003527, 2022 08.
Artigo
Inglês
| MEDLINE | ID: mdl-35583931
10.
Comparative analysis of germline and somatic microlesion mutational spectra in 17 human tumor suppressor genes.
Hum Mutat
; 32(6): 620-32, 2011 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-21432943
11.
In Silico identification of pathogenic strains of Cronobacter from Biochemical data reveals association of inositol fermentation with pathogenicity.
BMC Microbiol
; 11: 204, 2011 Sep 20.
Artigo
Inglês
| MEDLINE | ID: mdl-21933417
12.
Polygenic basis and biomedical consequences of telomere length variation.
Nat Genet
; 53(10): 1425-1433, 2021 10.
Artigo
Inglês
| MEDLINE | ID: mdl-34611362
13.
Rare loss-of-function mutations of PTGIR are enriched in fibromuscular dysplasia.
Cardiovasc Res
; 117(4): 1154-1165, 2021 03 21.
Artigo
Inglês
| MEDLINE | ID: mdl-32531060
14.
Novel loss of function mutation in NOTCH1 in a family with bicuspid aortic valve, ventricular septal defect, thoracic aortic aneurysm, and aortic valve stenosis.
Mol Genet Genomic Med
; 8(10): e1437, 2020 10.
Artigo
Inglês
| MEDLINE | ID: mdl-32720365
15.
Spontaneous Coronary Artery Dissection: Insights on Rare Genetic Variation From Genome Sequencing.
Circ Genom Precis Med
; 13(6): e003030, 2020 12.
Artigo
Inglês
| MEDLINE | ID: mdl-33125268
16.
Prediction of glycosylation sites using random forests.
BMC Bioinformatics
; 9: 500, 2008 Nov 27.
Artigo
Inglês
| MEDLINE | ID: mdl-19038042
17.
Systematic Evaluation of Pleiotropy Identifies 6 Further Loci Associated With Coronary Artery Disease.
J Am Coll Cardiol
; 69(7): 823-836, 2017 Feb 21.
Artigo
Inglês
| MEDLINE | ID: mdl-28209224
18.
Association analyses based on false discovery rate implicate new loci for coronary artery disease.
Nat Genet
; 49(9): 1385-1391, 2017 Sep.
Artigo
Inglês
| MEDLINE | ID: mdl-28714975
19.
Exploring the somatic NF1 mutational spectrum associated with NF1 cutaneous neurofibromas.
Eur J Hum Genet
; 20(4): 411-9, 2012 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-22108604
20.
Comparative analysis of genome sequences covering the seven cronobacter species.
PLoS One
; 7(11): e49455, 2012.
Artigo
Inglês
| MEDLINE | ID: mdl-23166675