Showing 1 - 11 results of 11 for search 'Garry R. Cutting', query time: 0.04s
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The relationship of lung function with ambient temperature. by Joseph M Collaco, Lawrence J Appel, John McGready, Garry R Cutting
Published 2018-01-01
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Extracellular vesicles enhance pulmonary transduction of stably associated adeno‐associated virus following intratracheal administration by Gijung Kwak, Olesia Gololobova, Neeraj Sharma, Colin Caine, Marina Mazur, Kathleen Mulka, Natalie E. West, George M. Solomon, Garry R. Cutting, Kenneth W. Witwer, Steven M. Rowe, Michael Paulaitis, George Aslanidi, Jung Soo Suk
Published 2023-06-01
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Protospacer modification improves base editing of a canonical splice site variant and recovery of CFTR function in human airway epithelial cells by Anya T. Joynt, Erin W. Kavanagh, Gregory A. Newby, Shakela Mitchell, Alice C. Eastman, Kathleen C. Paul, Alyssa D. Bowling, Derek L. Osorio, Christian A. Merlo, Shivani U. Patel, Karen S. Raraigh, David R. Liu, Neeraj Sharma, Garry R. Cutting
Published 2023-09-01
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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. by Anya T Joynt, Taylor A Evans, Matthew J Pellicore, Emily F Davis-Marcisak, Melis A Aksit, Alice C Eastman, Shivani U Patel, Kathleen C Paul, Derek L Osorio, Alyssa D Bowling, Calvin U Cotton, Karen S Raraigh, Natalie E West, Christian A Merlo, Garry R Cutting, Neeraj Sharma
Published 2020-10-01
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Capitalizing on the heterogeneous effects of CFTR nonsense and frameshift variants to inform therapeutic strategy for cystic fibrosis. by Neeraj Sharma, Taylor A Evans, Matthew J Pellicore, Emily Davis, Melis A Aksit, Allison F McCague, Anya T Joynt, Zhongzhu Lu, Sangwoo T Han, Arianna F Anzmann, Anh-Thu N Lam, Abigail Thaxton, Natalie West, Christian Merlo, Laura B Gottschalk, Karen S Raraigh, Patrick R Sosnay, Calvin U Cotton, Garry R Cutting
Published 2018-11-01
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Recommendations for application of the functional evidence PS3/BS3 criterion using the ACMG/AMP sequence variant interpretation framework by Sarah E. Brnich, Ahmad N. Abou Tayoun, Fergus J. Couch, Garry R. Cutting, Marc S. Greenblatt, Christopher D. Heinen, Dona M. Kanavy, Xi Luo, Shannon M. McNulty, Lea M. Starita, Sean V. Tavtigian, Matt W. Wright, Steven M. Harrison, Leslie G. Biesecker, Jonathan S. Berg, On behalf of the Clinical Genome Resource Sequence Variant Interpretation Working Group
Published 2019-12-01
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Genetic association and transcriptome integration identify contributing genes and tissues at cystic fibrosis modifier loci. by Jiafen Gong, Fan Wang, Bowei Xiao, Naim Panjwani, Fan Lin, Katherine Keenan, Julie Avolio, Mohsen Esmaeili, Lin Zhang, Gengming He, David Soave, Scott Mastromatteo, Zeynep Baskurt, Sangook Kim, Wanda K O'Neal, Deepika Polineni, Scott M Blackman, Harriet Corvol, Garry R Cutting, Mitchell Drumm, Michael R Knowles, Johanna M Rommens, Lei Sun, Lisa J Strug
Published 2019-02-01
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CFTR bearing variant p.Phe312del exhibits function inconsistent with phenotype and negligible response to ivacaftor by Karen S. Raraigh, Kathleen C. Paul, Jennifer L. Goralski, Erin N. Worthington, Anna V. Faino, Stanley Sciortino, Yiting Wang, Melis A. Aksit, Hua Ling, Derek L. Osorio, Frankline M. Onchiri, Shivani U. Patel, Christian A. Merlo, Kristina Montemayor, Ronald L. Gibson, Natalie E. West, Amita Thakerar, Robert J. Bridges, David N. Sheppard, Neeraj Sharma, Garry R. Cutting
Published 2022-03-01
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A deep learning approach to identify gene targets of a therapeutic for human splicing disorders by Dadi Gao, Elisabetta Morini, Monica Salani, Aram J. Krauson, Anil Chekuri, Neeraj Sharma, Ashok Ragavendran, Serkan Erdin, Emily M. Logan, Wencheng Li, Amal Dakka, Jana Narasimhan, Xin Zhao, Nikolai Naryshkin, Christopher R. Trotta, Kerstin A. Effenberger, Matthew G. Woll, Vijayalakshmi Gabbeta, Gary Karp, Yong Yu, Graham Johnson, William D. Paquette, Garry R. Cutting, Michael E. Talkowski, Susan A. Slaugenhaupt
Published 2021-06-01
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