Detalhe da pesquisa
1.
Retroelement-derived RNA and its role in the brain.
Semin Cell Dev Biol
; 114: 68-80, 2021 06.
Artigo
Inglês
| MEDLINE | ID: mdl-33229216
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
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
Inglês
| MEDLINE | ID: mdl-29805046
4.
Potentially lethal cystic fibrosis gene variant in the orangutan.
Am J Primatol
; 83(12): e23097, 2021 12.
Artigo
Inglês
| MEDLINE | ID: mdl-31967360
5.
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
Inglês
| MEDLINE | ID: mdl-30444886
6.
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
Inglês
| MEDLINE | ID: mdl-28475858
7.
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
Inglês
| MEDLINE | ID: mdl-30888834
8.
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
Inglês
| MEDLINE | ID: mdl-26911677
9.
Community pharmacist-delivered Medicare Annual Wellness Visits within a family medicine practice.
J Am Pharm Assoc (2003)
; 57(3S): S247-S251, 2017.
Artigo
Inglês
| MEDLINE | ID: mdl-28400254
10.
Lifespan analysis of repeat expression reveals age-dependent upregulation of HERV-K in the neurotypical human brain.
medRxiv
; 2024 May 17.
Artigo
Inglês
| MEDLINE | ID: mdl-38798538
11.
Variation in TAF1 expression in female carrier induced pluripotent stem cells and human brain ontogeny has implications for adult neostriatum vulnerability in X-linked Dystonia Parkinsonism.
eNeuro
; 2022 Jul 21.
Artigo
Inglês
| MEDLINE | ID: mdl-35868859
12.
Residual function of cystic fibrosis mutants predicts response to small molecule CFTR modulators.
JCI Insight
; 3(14)2018 07 26.
Artigo
Inglês
| MEDLINE | ID: mdl-30046002