The relationship of lung function with ambient temperature.

by Joseph M Collaco, Lawrence J Appel, John McGready, Garry R Cutting
Published 2018-01-01

Out-of-clinic measurement of sweat chloride using a wearable sensor during low-intensity exercise

by Dong-Hoon Choi, Grant B. Kitchen, Mark T. Jennings, Garry R. Cutting, Peter C. Searson
Published 2020-03-01

Mining GWAS and eQTL data for CF lung disease modifiers by gene expression imputation.

by Hong Dang, Deepika Polineni, Rhonda G Pace, Jaclyn R Stonebraker, Harriet Corvol, Garry R Cutting, Mitchell L Drumm, Lisa J Strug, Wanda K O'Neal, Michael R Knowles
Published 2020-01-01

Effect of temperature on cystic fibrosis lung disease and infections: a replicated cohort study.

by Joseph M Collaco, John McGready, Deanna M Green, Kathleen M Naughton, Christopher P Watson, Timothy Shields, Scott C Bell, Claire E Wainwright, ACFBAL Study Group, Garry R Cutting
Published 2011-01-01

Variation in MSRA modifies risk of neonatal intestinal obstruction in cystic fibrosis.

by Lindsay B Henderson, Vishal K Doshi, Scott M Blackman, Kathleen M Naughton, Rhonda G Pace, Jackob Moskovitz, Michael R Knowles, Peter R Durie, Mitchell L Drumm, Garry R Cutting
Published 2012-01-01

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

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

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

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

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