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.
Two rare variants that affect the same amino acid in CFTR have distinct responses to ivacaftor.
J Physiol
; 602(2): 333-354, 2024 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-38186087
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.
Accurate assignment of disease liability to genetic variants using only population data.
Genet Med
; 24(1): 87-99, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34906463
6.
Functional Assays Are Essential for Interpretation of Missense Variants Associated with Variable Expressivity.
Am J Hum Genet
; 102(6): 1062-1077, 2018 06 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-29805046
7.
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
8.
Systematic Computational Identification of Variants That Activate Exonic and Intronic Cryptic Splice Sites.
Am J Hum Genet
; 100(5): 751-765, 2017 May 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-28475858
9.
Correlating Cystic Fibrosis Transmembrane Conductance Regulator Function with Clinical Features to Inform Precision Treatment of Cystic Fibrosis.
Am J Respir Crit Care Med
; 199(9): 1116-1126, 2019 05 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30888834
10.
Practice variation of genetic counselor engagement in the cystic fibrosis newborn screen-positive diagnostic resolution process.
J Genet Couns
; 28(6): 1178-1188, 2019 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31550062
11.
Loss of carbonic anhydrase XII function in individuals with elevated sweat chloride concentration and pulmonary airway disease.
Hum Mol Genet
; 25(10): 1923-1933, 2016 05 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-26911677
12.
Updated recommendations for CFTR carrier screening: A position statement of the American College of Medical Genetics and Genomics (ACMG).
Genet Med
; 25(8): 100867, 2023 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37310422
13.
Missense variants in CFTR nucleotide-binding domains predict quantitative phenotypes associated with cystic fibrosis disease severity.
Hum Mol Genet
; 24(7): 1908-17, 2015 Apr 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-25489051
14.
Applying Cystic Fibrosis Transmembrane Conductance Regulator Genetics and CFTR2 Data to Facilitate Diagnoses.
J Pediatr
; 181S: S27-S32.e1, 2017 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-28129809
15.
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
16.
Experimental assessment of splicing variants using expression minigenes and comparison with in silico predictions.
Hum Mutat
; 35(10): 1249-59, 2014 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-25066652
17.
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
18.
Informed consent for exome sequencing research in families with genetic disease: the emerging issue of incidental findings.
Am J Med Genet A
; 164A(11): 2745-52, 2014 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-25251809
19.
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
20.
The clinical utility of sequencing the entirety of CFTR.
J Cyst Fibros
; 2024 May 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-38734509