Detalhe da pesquisa
1.
MagicalRsq-X: A cross-cohort transferable genotype imputation quality metric.
Am J Hum Genet;
111(5): 990-995, 2024 May 02.
Artigo
em Inglês
| MEDLINE
| ID: mdl-38636510
2.
MagicalRsq: Machine-learning-based genotype imputation quality calibration.
Am J Hum Genet;
109(11): 1986-1997, 2022 11 03.
Artigo
em Inglês
| MEDLINE
| ID: mdl-36198314
3.
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
4.
Genetic variation in severe cystic fibrosis liver disease is associated with novel mechanisms for disease pathogenesis.
Hepatology;
2024 Mar 27.
Artigo
em Inglês
| MEDLINE
| ID: mdl-38536042
5.
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
6.
Airway Mucosal Host Defense Is Key to Genomic Regulation of Cystic Fibrosis Lung Disease Severity.
Am J Respir Crit Care Med;
197(1): 79-93, 2018 01 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-28853905
7.
Gene expression in transformed lymphocytes reveals variation in endomembrane and HLA pathways modifying cystic fibrosis pulmonary phenotypes.
Am J Hum Genet;
96(2): 318-28, 2015 Feb 05.
Artigo
em Inglês
| MEDLINE
| ID: mdl-25640674
8.
Sources of Variation in Sweat Chloride Measurements in Cystic Fibrosis.
Am J Respir Crit Care Med;
194(11): 1375-1382, 2016 12 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-27258095
9.
Features of Severe Liver Disease With Portal Hypertension in Patients With Cystic Fibrosis.
Clin Gastroenterol Hepatol;
14(8): 1207-1215.e3, 2016 08.
Artigo
em Inglês
| MEDLINE
| ID: mdl-27062904
10.
Variants in Solute Carrier SLC26A9 Modify Prenatal Exocrine Pancreatic Damage in Cystic Fibrosis.
J Pediatr;
166(5): 1152-1157.e6, 2015 May.
Artigo
em Inglês
| MEDLINE
| ID: mdl-25771386
11.
Variation in MSRA modifies risk of neonatal intestinal obstruction in cystic fibrosis.
PLoS Genet;
8(3): e1002580, 2012.
Artigo
em Inglês
| MEDLINE
| ID: mdl-22438829
12.
Genome reference and sequence variation in the large repetitive central exon of human MUC5AC.
Am J Respir Cell Mol Biol;
50(1): 223-32, 2014 Jan.
Artigo
em Inglês
| MEDLINE
| ID: mdl-24010879
13.
The clinical utility of sequencing the entirety of CFTR.
J Cyst Fibros;
2024 May 10.
Artigo
em Inglês
| MEDLINE
| ID: mdl-38734509
14.
Complete CFTR gene sequencing in 5,058 individuals with cystic fibrosis informs variant-specific treatment.
J Cyst Fibros;
21(3): 463-470, 2022 05.
Artigo
em Inglês
| MEDLINE
| ID: mdl-34782259
15.
Comparing encounter-based and annualized chronic pseudomonas infection definitions in cystic fibrosis.
J Cyst Fibros;
21(1): 40-44, 2022 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-34393091
16.
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
em Inglês
| MEDLINE
| ID: mdl-35128485
17.
Immunoglobulin GM and KM allotypes are associated with antibody responses to Pseudomonas aeruginosa antigens in chronically infected cystic fibrosis patients.
J Cyst Fibros;
20(6): 1080-1084, 2021 11.
Artigo
em Inglês
| MEDLINE
| ID: mdl-34246573
18.
SLC26A9 SNP rs7512462 is not associated with lung disease severity or lung function response to ivacaftor in cystic fibrosis patients with G551D-CFTR.
J Cyst Fibros;
20(5): 851-856, 2021 09.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33674211
19.
Mining GWAS and eQTL data for CF lung disease modifiers by gene expression imputation.
PLoS One;
15(11): e0239189, 2020.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33253230
20.
Genetic Modifiers of Cystic Fibrosis-Related Diabetes Have Extensive Overlap With Type 2 Diabetes and Related Traits.
J Clin Endocrinol Metab;
105(5)2020 05 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-31697830