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
em Inglês
| MEDLINE | ID: mdl-31488579
2.
Pleiotropic modifiers of age-related diabetes and neonatal intestinal obstruction in cystic fibrosis.
Am J Hum Genet
; 109(10): 1894-1908, 2022 10 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36206743
3.
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
em Inglês
| MEDLINE | ID: mdl-36921087
4.
Filtering genetic variants and placing informative priors based on putative biological function.
BMC Genet
; 17 Suppl 2: 8, 2016 Feb 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-26866982
5.
New models of collaboration in genome-wide association studies: the Genetic Association Information Network.
Nat Genet
; 39(9): 1045-51, 2007 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-17728769
6.
Genetic variation associated with circulating monocyte count in the eMERGE Network.
Hum Mol Genet
; 22(10): 2119-27, 2013 May 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-23314186
7.
Assessment of incidental findings in 232 whole-exome sequences from the Baylor-Hopkins Center for Mendelian Genomics.
Genet Med
; 17(10): 782-8, 2015 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-25569433
8.
Preparation and use of varied natural tools for extractive foraging by bonobos (Pan Paniscus).
Am J Phys Anthropol
; 158(1): 78-91, 2015 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-26119360
9.
Stone tool production and utilization by bonobo-chimpanzees (Pan paniscus).
Proc Natl Acad Sci U S A
; 109(36): 14500-3, 2012 Sep 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-22912400
10.
The clinical utility of sequencing the entirety of CFTR.
J Cyst Fibros
; 2024 May 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-38734509
11.
Genome-wide association study identifies novel loci predisposing to cutaneous melanoma.
Hum Mol Genet
; 20(24): 5012-23, 2011 Dec 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-21926416
12.
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
em Inglês
| MEDLINE | ID: mdl-20385819
13.
A genome-wide association study of alcohol dependence.
Proc Natl Acad Sci U S A
; 107(11): 5082-7, 2010 Mar 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-20202923
14.
Intra-familial tests of association between familial idiopathic scoliosis and linked regions on 9q31.3-q34.3 and 16p12.3-q22.2.
Hum Hered
; 74(1): 36-44, 2012.
Artigo
em Inglês
| MEDLINE | ID: mdl-23154503
15.
Statistical analysis of rare sequence variants: an overview of collapsing methods.
Genet Epidemiol
; 35 Suppl 1: S12-7, 2011.
Artigo
em Inglês
| MEDLINE | ID: mdl-22128052
16.
Inflated type I error rates when using aggregation methods to analyze rare variants in the 1000 Genomes Project exon sequencing data in unrelated individuals: summary results from Group 7 at Genetic Analysis Workshop 17.
Genet Epidemiol
; 35 Suppl 1: S56-60, 2011.
Artigo
em Inglês
| MEDLINE | ID: mdl-22128060
17.
Evidence for gene-environment interaction in a genome wide study of nonsyndromic cleft palate.
Genet Epidemiol
; 35(6): 469-78, 2011 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-21618603
18.
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
em Inglês
| MEDLINE | ID: mdl-22125226
19.
Are myocardial infarction--associated single-nucleotide polymorphisms associated with ischemic stroke?
Stroke
; 43(4): 980-6, 2012 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-22363065
20.
Genetic variants associated with the white blood cell count in 13,923 subjects in the eMERGE Network.
Hum Genet
; 131(4): 639-52, 2012 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-22037903