Detalhe da pesquisa
1.
ZCCHC8, the nuclear exosome targeting component, is mutated in familial pulmonary fibrosis and is required for telomerase RNA maturation.
Genes Dev
; 33(19-20): 1381-1396, 2019 10 01.
Artigo
Inglês
| MEDLINE | ID: mdl-31488579
2.
Genetic Modifiers of Cystic Fibrosis Lung Disease Severity: Whole-Genome Analysis of 7,840 Patients.
Am J Respir Crit Care Med
; 207(10): 1324-1333, 2023 05 15.
Artigo
Inglês
| MEDLINE | ID: mdl-36921087
3.
Filtering genetic variants and placing informative priors based on putative biological function.
BMC Genet
; 17 Suppl 2: 8, 2016 Feb 03.
Artigo
Inglês
| MEDLINE | ID: mdl-26866982
4.
Genome-wide association study identifies novel loci predisposing to cutaneous melanoma.
Hum Mol Genet
; 20(24): 5012-23, 2011 Dec 15.
Artigo
Inglês
| MEDLINE | ID: mdl-21926416
5.
Genetic variants near TIMP3 and high-density lipoprotein-associated loci influence susceptibility to age-related macular degeneration.
Proc Natl Acad Sci U S A
; 107(16): 7401-6, 2010 Apr 20.
Artigo
Inglês
| MEDLINE | ID: mdl-20385819
6.
Evidence for gene-environment interaction in a genome wide study of nonsyndromic cleft palate.
Genet Epidemiol
; 35(6): 469-78, 2011 Sep.
Artigo
Inglês
| MEDLINE | ID: mdl-21618603
7.
Pitfalls of merging GWAS data: lessons learned in the eMERGE network and quality control procedures to maintain high data quality.
Genet Epidemiol
; 35(8): 887-98, 2011 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-22125226
8.
A genome-wide association study of lung cancer identifies a region of chromosome 5p15 associated with risk for adenocarcinoma.
Am J Hum Genet
; 85(5): 679-91, 2009 11.
Artigo
Inglês
| MEDLINE | ID: mdl-19836008
9.
Genome-wide association scan of dental caries in the permanent dentition.
BMC Oral Health
; 12: 57, 2012 Dec 21.
Artigo
Inglês
| MEDLINE | ID: mdl-23259602
10.
Leveraging TOPMed imputation server and constructing a cohort-specific imputation reference panel to enhance genotype imputation among cystic fibrosis patients.
HGG Adv
; 3(2): 100090, 2022 Apr 14.
Artigo
Inglês
| MEDLINE | ID: mdl-35128485
11.
Quality control and quality assurance in genotypic data for genome-wide association studies.
Genet Epidemiol
; 34(6): 591-602, 2010 Sep.
Artigo
Inglês
| MEDLINE | ID: mdl-20718045
12.
The Gene, Environment Association Studies consortium (GENEVA): maximizing the knowledge obtained from GWAS by collaboration across studies of multiple conditions.
Genet Epidemiol
; 34(4): 364-72, 2010 May.
Artigo
Inglês
| MEDLINE | ID: mdl-20091798
13.
A genome-wide association study on African-ancestry populations for asthma.
J Allergy Clin Immunol
; 125(2): 336-346.e4, 2010 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-19910028
14.
Genomewide association study for susceptibility genes contributing to familial Parkinson disease.
Hum Genet
; 124(6): 593-605, 2009 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-18985386
15.
A Genome-wide Association Study of Lung Cancer Identifies a Region of Chromosome 5p15 Associated with Risk for Adenocarcinoma.
Am J Hum Genet
; 88(6): 861, 2011 Jun 10.
Artigo
Inglês
| MEDLINE | ID: mdl-28472664
16.
Screening of 134 single nucleotide polymorphisms (SNPs) previously associated with type 2 diabetes replicates association with 12 SNPs in nine genes.
Diabetes
; 56(1): 256-64, 2007 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-17192490
17.
A graphical assessment of p-values from sliding window haplotype tests of association to identify asthma susceptibility loci on chromosome 11q.
BMC Genet
; 7: 38, 2006 Jun 14.
Artigo
Inglês
| MEDLINE | ID: mdl-16774684
18.
Comparison of parametric and machine methods for variable selection in simulated Genetic Analysis Workshop 19 data.
BMC Proc
; 10(Suppl 7): 147-152, 2016.
Artigo
Inglês
| MEDLINE | ID: mdl-27980627
19.
A large set of Finnish affected sibling pair families with type 2 diabetes suggests susceptibility loci on chromosomes 6, 11, and 14.
Diabetes
; 53(3): 821-9, 2004 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-14988269
20.
Investigation of altering single-nucleotide polymorphism density on the power to detect trait loci and frequency of false positive in nonparametric linkage analyses of qualitative traits.
BMC Genet
; 6 Suppl 1: S20, 2005 Dec 30.
Artigo
Inglês
| MEDLINE | ID: mdl-16451629