Detalhe da pesquisa
1.
Use of adenine base editing and homology-independent targeted integration strategies to correct the cystic fibrosis causing variant, W1282X.
Hum Mol Genet
; 32(23): 3237-3248, 2023 Nov 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-37649273
2.
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
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.
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
6.
Addressing the dNTP bottleneck restricting prime editing activity.
bioRxiv
; 2023 Oct 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-37904991
7.
Protospacer modification improves base editing of a canonical splice site variant and recovery of CFTR function in human airway epithelial cells.
Mol Ther Nucleic Acids
; 33: 335-350, 2023 Sep 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-37547293
8.
Genetics of Cystic Fibrosis: Clinical Implications.
Clin Chest Med
; 43(4): 591-602, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-36344068
9.
Characterization of an unbalanced translocation causing 3q28qter duplication and 10q26.2qter deletion in a patient with global developmental delay and self-injury.
Cold Spring Harb Mol Case Stud
; 6(6)2020 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-33335013
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