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Anya T. Joynt

Johns Hopkins University School of Medicine

9

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175

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643: A novel splice modulator compound corrects splicing defect caused by c.2988G >A variant in CFTR

2021 Journal of Cystic Fibrosis
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Evaluation of both exonic and intronic variants for effects on RNA splicing allows for accurate assessment of the effectiveness of precision therapies.

2020 PLOS Genetics
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Decreased mRNA and protein stability of W1282X limits response to modulator therapy

2019 Journal of Cystic Fibrosis
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Correlating Cystic Fibrosis Transmembrane Conductance Regulator Function with Clinical Features to Inform Precision Treatment of Cystic Fibrosis

2019 American Journal of Respiratory and Critical Care Medicine
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Correlating CFTR Function with Clinical Features to Inform Precision Treatment of Cystic Fibrosis

2019 American Journal of Respiratory and Critical Care Medicine
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WS17.3 Functional characterisation and CFTR2 disease liability assignment of 48 missense variants

2018 Journal of Cystic Fibrosis
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Functional Assays Are Essential for Interpretation of Missense Variants Associated with Variable Expressivity

2018 American Journal of Human Genetics
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Residual function of cystic fibrosis mutants predicts response to small molecule CFTR modulators

2018 JCI insight
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Citations (43)