Find Research Outputs

Search in all content

Filters for Research Output

Search concepts
Selected Filters

Publication Year

  • 2020
  • 2018
  • 2017
  • 2016

Author

  • Garry R Cutting
2018

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

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
2016

Creation and characterization of an airway epithelial cell line for stable expression of CFTR variants

Gottschalk, L. B., Vecchio-Pagan, B., Sharma, N., Han, S. T., Franca, A., Wohler, E. S., Batista, D. A. S., Goff, L. A. & Cutting, G. R., May 1 2016, In : Journal of Cystic Fibrosis. 15, 3, p. 285-294 10 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

2016

Loss of carbonic anhydrase XII function in individuals with elevated sweat chloride concentration and pulmonary airway disease

Lee, M., Vecchio-Pagán, B., Sharma, N., Waheed, A., Li, X., Raraigh, K. S., Robbins, S., Han, S. T., Franca, A. L., Pellicore, M. J., Evans, T. A., Arcara, K., Nguyen, H., Luan, S., Belchis, D. A., Hertecant, J., Zabner, J., Sly, W. S. & Cutting, G. R., May 15 2016, In : Human Molecular Genetics. 25, 10, p. 1923-1933 11 p., ddw065.

Research output: Contribution to journalArticle

2020
2017

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

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., Jan 1 2018, (Accepted/In press) In : Journal of Cystic Fibrosis.

Research output: Contribution to journalArticle

2016

Wearable potentiometric chloride sweat sensor: The critical role of the salt bridge

Choi, D. H., Kim, J. S., Cutting, G. R. & Searson, P. C., Jan 1 2016, In : Analytical Chemistry. 88, 24, p. 12241-12247 7 p.

Research output: Contribution to journalArticle

Novel variation at chr11p13 associated with cystic fibrosis lung disease severity

Dang, H., Gallins, P. J., Pace, R. G., Guo, X. L., Stonebraker, J. R., Corvol, H., Cutting, G. R., Drumm, M. L., Strug, L. J., Knowles, M. R. & O'Neal, W. K., Jul 7 2016, In : Human Genome Variation. 3, 201620.

Research output: Contribution to journalArticle

Open Access

Clinical sensitivity of cystic fibrosis mutation panels in a diverse population

The New York State Cystic Fibrosis Newborn Screening Consortium, Jan 1 2016, In : Human mutation. 37, 2, p. 201-208 8 p.

Research output: Contribution to journalArticle

Bias in CFTR screening panels

Sosnay, P. R., Castellani, C., Penland, C. M., Rommens, J. M., Lewis, M., Raraigh, K. S., Corey, M. & Cutting, G. R., Feb 1 2016, In : Genetics in Medicine. 18, 2, 1 p.

Research output: Contribution to journalLetter

25 Years of Human Mutation

Cutting, G. R. & Kazazian, H., Jun 1 2016, In : Human Mutation. 37, 6, p. 503-504 2 p.

Research output: Contribution to journalArticle

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

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

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
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

2016

A sequence upstream of canonical PDZ-binding motif within CFTR COOH-terminus enhances NHERF1 interaction

Sharma, N., LaRusch, J., Sosnay, P. R., Gottschalk, L. B., Lopez, A. P., Pellicore, M. J., Evans, T., Davis, E., Atalar, M., Na, C-H., Rosson, G. D., Belchis, D. A., Milewski, M., Pandey, A. & Cutting, G. R., 2016, In : American Journal of Physiology - Lung Cellular and Molecular Physiology. 311, 6, p. L1170-L1182

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

2016

Deep resequencing of CFTR in 762 F508del homozygotes reveals clusters of non-coding variants associated with cystic fibrosis disease traits

Vecchio-Pagán, B., Blackman, S., Lee, M., Atalar, M., Pellicore, M. J., Pace, R. G., Franca, A. L., Raraigh, K. S., Sharma, N., Knowles, M. R. & Cutting, G. R., Nov 24 2016, In : Human Genome Variation. 3, 16038.

Research output: Contribution to journalArticle

Open Access
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

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
2016

Codon bias and the folding dynamics of the cystic fibrosis transmembrane conductance regulator

Bartoszewski, R., Króliczewski, J., Piotrowski, A., Jasiecka, A. J., Bartoszewska, S., Vecchio-Pagan, B., Fu, L., Sobolewska, A., Matalon, S., Cutting, G. R., Rowe, S. M. & Collawn, J. F., Oct 19 2016, In : Cellular and Molecular Biology Letters. 21, 1, 23.

Research output: Contribution to journalReview article

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

2016

Respiratory pathogens mediate the association between lung function and temperature in cystic fibrosis

Collaco, M., Raraigh, K. S., Appel, L. & Cutting, G. R., Nov 1 2016, In : Journal of Cystic Fibrosis. 15, 6, p. 794-801 8 p.

Research output: Contribution to journalArticle

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

2016

Sources of variation in Sweat chloride measurements in cystic fibrosis

Collaco, J. M., Blackman, S. M., Raraigh, K. S., Corvol, H., Rommens, J. M., Pace, R. G., Boelle, P. Y., McGready, J., Sosnay, P. R., Strug, L. J., Knowles, M. R. & Cutting, G. R., Dec 1 2016, In : American journal of respiratory and critical care medicine. 194, 11, p. 1375-1382 8 p.

Research output: Contribution to journalArticle

Common miR-590 variant rs6971711 present only in African Americans reduces miR-590 biogenesis

Lin, X., Steinberg, S., Kandasamy, S. K., Afzal, J., Mbiyangandu, B., Liao, S. E., Guan, Y., Corona-Villalobos, C. P., Matkovich, S. J., Epstein, N., Tripodi, D., Huo, Z., Cutting, G., Abraham, T. P., Fukunaga, R. & Abraham, M. R., May 1 2016, In : PloS one. 11, 5, e0156065.

Research output: Contribution to journalArticle

Cystic Fibrosis

Cutting, G. R., Oct 6 2016, International Encyclopedia of Public Health. Elsevier Inc., p. 208-210 3 p.

Research output: Chapter in Book/Report/Conference proceedingChapter

From CFTR biology toward combinatorial pharmacotherapy: Expanded classification of cystic fibrosis mutations

Veit, G., Avramescu, R. G., Chiang, A. N., Houck, S. A., Cai, Z., Peters, K. W., Hong, J. S., Pollard, H. B., Guggino, W. B., Balch, W. E., Skach, W. R., Cutting, G. R., Frizzell, R. A., Sheppard, D. N., Cyr, D. M., Sorscher, E. J., Brodsky, J. L. & Lukacs, G. L., Feb 1 2016, In : Molecular biology of the cell. 27, 3, p. 424-433 10 p.

Research output: Contribution to journalArticle