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.
Genetic association and transcriptome integration identify contributing genes and tissues at cystic fibrosis modifier loci.
PLoS Genet
; 15(2): e1008007, 2019 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-30807572
7.
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
8.
Diabetes-related mortality in adults with cystic fibrosis. Role of genotype and sex.
Am J Respir Crit Care Med
; 191(2): 194-200, 2015 Jan 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-25479583
9.
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
10.
Cat and dog exposure and respiratory morbidities in cystic fibrosis.
J Pediatr
; 165(4): 830-5.e2, 2014 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-25027361
11.
Insulin pump use in young children in the T1D Exchange clinic registry is associated with lower hemoglobin A1c levels than injection therapy.
Pediatr Diabetes
; 15(8): 564-72, 2014 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-24494980
12.
Self-reported exercise and longitudinal outcomes in cystic fibrosis: a retrospective cohort study.
BMC Pulm Med
; 14: 159, 2014 Oct 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-25287419
13.
The clinical utility of sequencing the entirety of CFTR.
J Cyst Fibros
; 2024 May 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-38734509
14.
Cystic Fibrosis-Related Diabetes Workshop: Research Priorities Spanning Disease Pathophysiology, Diagnosis, and Outcomes.
Diabetes
; 72(6): 677-689, 2023 06 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37125945
15.
Cystic Fibrosis-Related Diabetes Workshop: Research Priorities Spanning Disease Pathophysiology, Diagnosis, and Outcomes.
Diabetes Care
; 46(6): 1112-1123, 2023 06 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37125948
16.
Heritability of respiratory infection with Pseudomonas aeruginosa in cystic fibrosis.
J Pediatr
; 161(2): 290-5.e1, 2012 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-22364820
17.
Hyperglycemia in Young Children with Cystic Fibrosis.
Am J Respir Crit Care Med
; 194(8): 924-925, 2016 10 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-27739893
18.
The role of genetic modifiers, inflammation and CFTR in the pathogenesis of Cystic fibrosis related diabetes.
J Clin Transl Endocrinol
; 27: 100287, 2022 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-34976741
19.
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
20.
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