Capitalizing on the heterogeneous effects of CFTR nonsense and frameshift variants to inform therapeutic strategy for cystic fibrosis
Sharma, Neeraj, Evans, Taylor A, Pellicore, Matthew J, Davis, Emily, Aksit, Melis A, McCague, Allison F, Joynt, Anya T, Lu, Zhongzhu, Han, Sangwoo T, Anzmann, Arianna F, Lam, Anh-Thu N, Thaxton, Abigail, West, Natalie, Merlo, Christian, Gottschalk, Laura B, Raraigh, Karen S, Sosnay, Patrick R, Cotton, Calvin U, Cutting, Garry R
Published in PLoS genetics (16.11.2018)
Published in PLoS genetics (16.11.2018)
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Functional Assays Are Essential for Interpretation of Missense Variants Associated with Variable Expressivity
Raraigh, Karen S., Han, Sangwoo T., Davis, Emily, Evans, Taylor A., Pellicore, Matthew J., McCague, Allison F., Joynt, Anya T., Lu, Zhongzhou, Atalar, Melis, Sharma, Neeraj, Sheridan, Molly B., Sosnay, Patrick R., Cutting, Garry R.
Published in American journal of human genetics (07.06.2018)
Published in American journal of human genetics (07.06.2018)
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Journal Article
Correlating Cystic Fibrosis Transmembrane Conductance Regulator Function with Clinical Features to Inform Precision Treatment of Cystic Fibrosis
McCague, Allison F, Raraigh, Karen S, Pellicore, Matthew J, Davis-Marcisak, Emily F, Evans, Taylor A, Han, Sangwoo T, Lu, Zhongzhou, Joynt, Anya T, Sharma, Neeraj, Castellani, Carlo, Collaco, Joseph M, Corey, Mary, Lewis, Michelle H, Penland, Chris M, Rommens, Johanna M, Stephenson, Anne L, Sosnay, Patrick R, Cutting, Garry R
Published in American journal of respiratory and critical care medicine (01.05.2019)
Published in American journal of respiratory and critical care medicine (01.05.2019)
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Residual function of cystic fibrosis mutants predicts response to small molecule CFTR modulators
Han, Sangwoo T, Rab, Andras, Pellicore, Matthew J, Davis, Emily F, McCague, Allison F, Evans, Taylor A, Joynt, Anya T, Lu, Zhongzhou, Cai, Zhiwei, Raraigh, Karen S, Hong, Jeong S, Sheppard, David N, Sorscher, Eric J, Cutting, Garry R
Published in JCI insight (26.07.2018)
Published in JCI insight (26.07.2018)
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Whether, when, and how to communicate genetic risk to minors: ‘I wanted more information but I think they were scared I couldn’t handle it
Stuttgen, Kelsey, McCague, Allison, Bollinger, Juli, Dvoskin, Rachel, Mathews, Debra
Published in Journal of genetic counseling (01.02.2021)
Published in Journal of genetic counseling (01.02.2021)
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Family Communication Patterns and Challenges of Huntington’s Disease Risk, the Decision to Pursue Presymptomatic Testing, and Test Results
Stuttgen, Kelsey, Bollinger, Juli, McCague, Allison, Dvoskin, Rachel, Mathews, Debra
Published in Journal of Huntington's disease (01.01.2020)
Published in Journal of Huntington's disease (01.01.2020)
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Risk perception before and after presymptomatic genetic testing for Huntington's disease: Not always what one might expect
Stuttgen, Kelsey, Dvoskin, Rachel, Bollinger, Juli, McCague, Allison, Shpritz, Barnett, Brandt, Jason, Mathews, Debra
Published in Molecular genetics & genomic medicine (01.11.2018)
Published in Molecular genetics & genomic medicine (01.11.2018)
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