Detalhe da pesquisa
1.
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
2.
Biophysical Modulation of Mesenchymal Stem Cell Differentiation in the Context of Skeletal Repair.
Int J Mol Sci;
23(7)2022 Apr 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-35409277
3.
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
4.
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
5.
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
6.
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
7.
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
8.
A sequence upstream of canonical PDZ-binding motif within CFTR COOH-terminus enhances NHERF1 interaction.
Am J Physiol Lung Cell Mol Physiol;
311(6): L1170-L1182, 2016 Dec 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-27793802
9.
Toward defining the role of the synovium in mitigating normal articular cartilage wear and tear.
J Biomech;
148: 111472, 2023 02.
Artigo
em Inglês
| MEDLINE
| ID: mdl-36753853
10.
Residual function of cystic fibrosis mutants predicts response to small molecule CFTR modulators.
JCI Insight;
3(14)2018 07 26.
Artigo
em Inglês
| MEDLINE
| ID: mdl-30046002
11.
Deep resequencing of CFTR in 762 F508del homozygotes reveals clusters of non-coding variants associated with cystic fibrosis disease traits.
Hum Genome Var;
3: 16038, 2016.
Artigo
em Inglês
| MEDLINE
| ID: mdl-27917292