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  • Garry R Cutting
2018

Residual function of cystic fibrosis mutants predicts response to small molecule CFTR modulators

Han, S. T., Rab, A., Pellicore, M. J., Davis, E. F., McCague, A. F., Evans, T. A., Joynt, A. T., Lu, Z., Cai, Z., Raraigh, K. S., Hong, J. S., Sheppard, D. N., Sorscher, E. J. & Cutting, G. R., Jul 26 2018, In : JCI Insight. 3, 14

Research output: Contribution to journalArticle

Open Access

The relationship of lung function with ambient temperature

Collaco, M., Appel, L., McGready, J. & Cutting, G. R., Jan 1 2018, In : PLoS One. 13, 1, e0191409.

Research output: Contribution to journalArticle

2019

Integrated transcriptomic and proteomic analysis of human eccrine sweat glands identifies missing and novel proteins

Na, C-H., Sharma, N., MadugUndu, A. K., Chen, R., Aksit, M. A., Rosson, G. D., Cutting, G. R. & Pandey, A., Jan 1 2019, In : Molecular and Cellular Proteomics. 18, 7, p. 1382-1395 14 p.

Research output: Contribution to journalArticle

2017

Treating Specific Variants Causing Cystic Fibrosis

Cutting, G. R., Dec 5 2017, In : JAMA - Journal of the American Medical Association. 318, 21, p. 2130-2131 2 p.

Research output: Contribution to journalShort survey

Systematic Computational Identification of Variants That Activate Exonic and Intronic Cryptic Splice Sites

Lee, M., Roos, P., Sharma, N., Atalar, M., Evans, T. A., Pellicore, M. J., Davis, E., Lam, A. T. N., Stanley, S. E., Khalil, S. E., Solomon, G. M., Walker, D., Raraigh, K. S., Vecchio-Pagan, B., Armanios, M. & Cutting, G. R., May 4 2017, In : American Journal of Human Genetics. 100, 5, p. 751-765 15 p.

Research output: Contribution to journalArticle

2020
2019

Correlating cystic fibrosis transmembrane conductance regulator function with clinical features to inform precision treatment of cystic fibrosis

McCague, A. F., Raraigh, K. S., Pellicore, M. J., Davis-Marcisak, E. F., Evans, T. A., Han, S. T., Lu, Z., Joynt, A. T., Sharma, N., Castellani, C., Collaco, J. M., Corey, M., Lewis, M. H., Penland, C. M., Rommens, J. M., Stephenson, A. L., Sosnay, P. R. & Cutting, G. R., May 1 2019, In : American journal of respiratory and critical care medicine. 199, 9, p. 1116-1126 11 p.

Research output: Contribution to journalArticle

2020

CFTR variant testing: a technical standard of the American College of Medical Genetics and Genomics (ACMG)

ACMG Laboratory Quality Assurance Committee, Jan 1 2020, (Accepted/In press) In : Genetics in Medicine.

Research output: Contribution to journalArticle

Open Access
2019

Recommendations for application of the functional evidence PS3/BS3 criterion using the ACMG/AMP sequence variant interpretation framework

Brnich, S. E., Abou Tayoun, A. N., Couch, F. J., Cutting, G. R., Greenblatt, M. S., Heinen, C. D., Kanavy, D. M., Luo, X., McNulty, S. M., Starita, L. M., Tavtigian, S. V., Wright, M. W., Harrison, S. M., Biesecker, L. G., Berg, J. S., Abou Tayoun, A. N., Berg, J. S., Biesecker, L. G., Brenner, S. E., Cutting, G. R. & 12 others, Ellard, S., Greenblatt, M. S., Harrison, S. M., Karbassi, I., Karchin, R., Mester, J. L., O'Donnell-Luria, A., Pesaran, T., Plon, S. E., Rehm, H., Tavtigian, S. V. & Topper, S., Dec 31 2019, In : Genome Medicine. 12, 1, 3.

Research output: Contribution to journalReview article

Open Access
2018

Capitalizing on the heterogeneous effects of CFTR nonsense and frameshift variants to inform therapeutic strategy for cystic fibrosis

Sharma, N., Evans, T. A., Pellicore, M. J., Davis, E., Aksit, M. A., McCague, A. F., Joynt, A. T., Lu, Z., Han, S. T., Anzmann, A. F., Lam, A. T. N., Thaxton, A., West, N. E., Merlo, C., Gottschalk, L. B., Raraigh, K. S., Sosnay, P. R., Cotton, C. U. & Cutting, G. R., Nov 1 2018, In : PLoS Genetics. 14, 11, e1007723.

Research output: Contribution to journalArticle

2019
2020

Increased expression of anion transporter SLC26A9 delays diabetes onset in cystic fibrosis

Lam, A. T. N., Aksit, M. A., Vecchio-Pagan, B., Shelton, C. A., Osorio, D. L., Anzmann, A. F., Goff, L. A., Whitcomb, D. C., Blackman, S. M. & Cutting, G. R., Jan 2 2020, In : Journal of Clinical Investigation. 130, 1, p. 272-286 15 p.

Research output: Contribution to journalArticle

Open Access
2018

Improving imputation in disease-relevant regions: Lessons from cystic fibrosis

Panjwani, N., Xiao, B., Xu, L., Gong, J., Keenan, K., Lin, F., He, G., Baskurt, Z., Kim, S., Zhang, L., Esmaeili, M., Blackman, S., Scherer, S. W., Corvol, H., Drumm, M., Knowles, M., Cutting, G., Rommens, J. M., Sun, L. & Strug, L. J., Dec 1 2018, In : npj Genomic Medicine. 3, 1, 47.

Research output: Contribution to journalArticle

2017

A wearable potentiometric sensor with integrated salt bridge for sweat chloride measurement

Choi, D. H., Li, Y., Cutting, G. R. & Searson, P. C., Oct 1 2017, In : Sensors and Actuators, B: Chemical. 250, p. 673-678 6 p.

Research output: Contribution to journalArticle

2019

The genetics and genomics of cystic fibrosis

Sharma, N. & Cutting, G. R., Jan 1 2019, (Accepted/In press) In : Journal of Cystic Fibrosis.

Research output: Contribution to journalArticle

AGTR2 absence or antagonism prevents cystic fibrosis pulmonary manifestations

Darrah, R. J., Jacono, F. J., Joshi, N., Mitchell, A. L., Sattar, A., Campanaro, C. K., Litman, P., Frey, J., Nethery, D. E., Barbato, E. S., Hodges, C. A., Corvol, H., Cutting, G. R., Knowles, M. R., Strug, L. J. & Drumm, M. L., Jan 2019, In : Journal of Cystic Fibrosis. 18, 1, p. 127-134 8 p.

Research output: Contribution to journalArticle

2020

Potentially lethal cystic fibrosis gene variant in the orangutan

Taylor-Cousar, J. L., Evans, T. A., Cutting, G. R. & Sharma, N., Jan 1 2020, (Accepted/In press) In : American Journal of Primatology. e23097.

Research output: Contribution to journalArticle

2017

Lessons from the CAGI-4 Hopkins clinical panel challenge

Chandonia, J. M., Adhikari, A., Carraro, M., Chhibber, A., Cutting, G. R., Fu, Y., Gasparini, A., Jones, D. T., Kramer, A., Kundu, K., Lam, H. Y. K., Leonardi, E., Moult, J., Pal, L. R., Searls, D. B., Shah, S., Sunyaev, S., Tosatto, S. C. E., Yin, Y. & Buckley, B. A., 2017, (Accepted/In press) In : Human Mutation.

Research output: Contribution to journalArticle

2018

Airway mucosal host defense is key to genomic regulation of cystic fibrosis lung disease severity

Polineni, D., Dang, H., Gallins, P. J., Jones, L. C., Pace, R. G., Stonebraker, J. R., Commander, L. A., Krenicky, J. E., Zhou, Y. H., Corvol, H., Cutting, G. R., Drumm, M. L., Strug, L. J., Boyle, M. P., Durie, P. R., Chmiel, J. F., Zou, F., Wright, F. A., O’Neal, W. K. & Knowles, M. R., Jan 1 2018, In : American journal of respiratory and critical care medicine. 197, 1, p. 79-93 15 p.

Research output: Contribution to journalArticle

Functional Assays Are Essential for Interpretation of Missense Variants Associated with Variable Expressivity

Raraigh, K. S., Han, S. T., Davis, E., Evans, T. A., Pellicore, M. J., McCague, A. F., Joynt, A. T., Lu, Z., Atalar, M., Sharma, N., Sheridan, M. B., Sosnay, P. R. & Cutting, G. R., Jun 7 2018, In : American journal of human genetics. 102, 6, p. 1062-1077 16 p.

Research output: Contribution to journalArticle

2019

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

Aksit, M. A., Bowling, A. D., Evans, T. A., Joynt, A. T., Osorio, D., Patel, S., West, N. E., Merlo, C., Sosnay, P. R., Cutting, G. R. & Sharma, N., Jan 1 2019, In : Journal of Cystic Fibrosis.

Research output: Contribution to journalArticle

CFTR modulator theratyping: Current status, gaps and future directions

Clancy, J. P., Cotton, C. U., Donaldson, S. H., Solomon, G. M., VanDevanter, D. R., Boyle, M. P., Gentzsch, M., Nick, J. A., Illek, B., Wallenburg, J. C., Sorscher, E. J., Amaral, M. D., Beekman, J. M., Naren, A. P., Bridges, R. J., Thomas, P. J., Cutting, G., Rowe, S., Durmowicz, A. G., Mense, M. & 8 others, Boeck, K. D., Skach, W., Penland, C., Joseloff, E., Bihler, H., Mahoney, J., Borowitz, D. & Tuggle, K. L., Jan 2019, In : Journal of Cystic Fibrosis. 18, 1, p. 22-34 13 p.

Research output: Contribution to journalReview article

2017

Transformative therapies for rare CFTR missense alleles

Oliver, K. E., Han, S. T., Sorscher, E. J. & Cutting, G. R., Jun 1 2017, In : Current Opinion in Pharmacology. 34, p. 76-82 7 p.

Research output: Contribution to journalReview article

2019

49 - Genetics and Pathophysiology of Cystic Fibrosis

Cutting, G. R., Engelhardt, J. & Zeitlin, P. L., Jan 1 2019, Kendig's Disorders of the Respiratory Tract in Children. Elsevier Inc., p. 757-768.e6

Research output: Chapter in Book/Report/Conference proceedingChapter

Cystic fibrosis

Collaco, J. M. & Cutting, G. R., Jan 1 2019, Emery and Rimoin's Principles and Practice of Medical Genetics and Genomics: Cardiovascular, Respiratory, and Gastrointestinal Disorders. Elsevier, p. 285-339 55 p.

Research output: Chapter in Book/Report/Conference proceedingChapter

Genetic association and transcriptome integration identify contributing genes and tissues at cystic fibrosis modifier loci

Gong, J., Wang, F., Xiao, B., Panjwani, N., Lin, F., Keenan, K., Avolio, J., Esmaeili, M., Zhang, L., He, G., Soave, D., Mastromatteo, S., Baskurt, Z., Kim, S., O’Neal, W. K., Polineni, D., Blackman, S. M., Corvol, H., Cutting, G. R., Drumm, M. & 4 others, Knowles, M. R., Rommens, J. M., Sun, L. & Strug, L. J., Feb 2019, In : PLoS genetics. 15, 2, e1008007.

Research output: Contribution to journalArticle

Open Access

Acquired cystic fibrosis transmembrane conductance regulator dysfunction and radiographic bronchiectasis in current and former smokers: A cross-sectional study

Teerapuncharoen, K., Michael Wells, J., Vamsee Raju, S., Raraigh, K. S., Aksit, M. A., Cutting, G. R., Rasmussen, L., Hrudaya Nath, P., Bhatt, S. P., Solomon, G. M., Dransfield, M. T. & Rowe, S. M., Jan 2019, In : Annals of the American Thoracic Society. 16, 1, p. 150-153 4 p.

Research output: Contribution to journalLetter

2020

Genetic modifiers of cystic fibrosis-related diabetes have extensive overlap with type 2 diabetes and related traits

Aksit, M. A., Pace, R. G., Vecchio-Pagán, B., Ling, H., Rommens, J. M., Boelle, P. Y., Guillot, L., Raraigh, K. S., Pugh, E., Zhang, P., Strug, L. J., Drumm, M. L., Knowles, M. R., Cutting, G. R., Corvol, H. & Blackman, S. M., May 1 2020, In : Journal of Clinical Endocrinology and Metabolism. 105, 5, dgz102.

Research output: Contribution to journalArticle

Open Access
2018

Sweat test for cystic fibrosis: Wearable sweat sensor vs. standard laboratory test

Choi, D. H., Thaxton, A., Jeong, I. C., Kim, K., Sosnay, P. R., Cutting, G. R. & Searson, P. C., Jul 2018, In : Journal of Cystic Fibrosis. 17, 4, p. e35-e38

Research output: Contribution to journalArticle