Detalhe da pesquisa
1.
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
2.
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
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.
Evaluation of both exonic and intronic variants for effects on RNA splicing allows for accurate assessment of the effectiveness of precision therapies.
PLoS Genet;
16(10): e1009100, 2020 10.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33085659
5.
Characterizing mucociliary clearance in young children with cystic fibrosis.
Pediatr Res;
91(3): 612-620, 2022 02.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33753897
6.
Capitalizing on the heterogeneous effects of CFTR nonsense and frameshift variants to inform therapeutic strategy for cystic fibrosis.
PLoS Genet;
14(11): e1007723, 2018 11.
Artigo
em Inglês
| MEDLINE
| ID: mdl-30444886
7.
The clinical utility of sequencing the entirety of CFTR.
J Cyst Fibros;
2024 May 10.
Artigo
em Inglês
| MEDLINE
| ID: mdl-38734509
8.
Silencing XIST on the future active X: Searching human and bovine preimplantation embryos for the repressor.
Eur J Hum Genet;
2022 May 19.
Artigo
em Inglês
| MEDLINE
| ID: mdl-35585273
9.
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
10.
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
11.
CFTR bearing variant p.Phe312del exhibits function inconsistent with phenotype and negligible response to ivacaftor.
JCI Insight;
7(6)2022 03 22.
Artigo
em Inglês
| MEDLINE
| ID: mdl-35315358
12.
Cystic fibrosis transmembrane conductance regulator function, not TAS2R38 gene haplotypes, predict sinus surgery in children and young adults with cystic fibrosis.
Int Forum Allergy Rhinol;
10(6): 748-754, 2020 06.
Artigo
em Inglês
| MEDLINE
| ID: mdl-32282124
13.
Increased expression of anion transporter SLC26A9 delays diabetes onset in cystic fibrosis.
J Clin Invest;
130(1): 272-286, 2020 01 02.
Artigo
em Inglês
| MEDLINE
| ID: mdl-31581148
14.
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