Research output per year
Research output per year
- 21 results
Search results
-
2022
CFTR bearing variant p.Phe312del exhibits function inconsistent with phenotype and negligible response to ivacaftor
Raraigh, K. S., Paul, K. C., Goralski, J. L., Worthington, E. N., Faino, A. V., Sciortino, S., Wang, Y., Aksit, M. A., Ling, H., Osorio, D. L., Onchiri, F. M., Patel, S. U., Merlo, C. A., Montemayor, K., Gibson, R. L., West, N. E., Thakerar, A., Bridges, R. J., Sheppard, D. N., Sharma, N., & 1 others, Mar 22 2022, In: JCI Insight. 7, 6, e148841.Research output: Contribution to journal › Article › peer-review
Open Access -
Downstream Alternate Start Site Allows N-Terminal Nonsense Variants to Escape NMD and Results in Functional Recovery by Readthrough and Modulator Combination
Bowling, A., Eastman, A., Merlo, C., Lin, G., West, N., Patel, S., Cutting, G. & Sharma, N., Sep 2022, In: Journal of Personalized Medicine. 12, 9, 1448.Research output: Contribution to journal › Article › peer-review
Open Access -
Genetics of Cystic Fibrosis: Clinical Implications
Joynt, A. T., Cutting, G. R. & Sharma, N., Dec 2022, In: Clinics in Chest Medicine. 43, 4, p. 591-602 12 p.Research output: Contribution to journal › Review article › peer-review
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2021
A deep learning approach to identify gene targets of a therapeutic for human splicing disorders
Gao, D., Morini, E., Salani, M., Krauson, A. J., Chekuri, A., Sharma, N., Ragavendran, A., Erdin, S., Logan, E. M., Li, W., Dakka, A., Narasimhan, J., Zhao, X., Naryshkin, N., Trotta, C. R., Effenberger, K. A., Woll, M. G., Gabbeta, V., Karp, G., Yu, Y., & 5 others, Dec 1 2021, In: Nature communications. 12, 1, 3332.Research output: Contribution to journal › Article › peer-review
Open Access -
Potentially lethal cystic fibrosis gene variant in the orangutan
Taylor-Cousar, J. L., Evans, T. A., Cutting, G. R. & Sharma, N., Dec 2021, In: American journal of primatology. 83, 12, e23097.Research output: Contribution to journal › Article › peer-review
Open Access -
2020
Evaluation of both exonic and intronic variants for effects on RNA splicing allows for accurate assessment of the effectiveness of precision therapies
Joynt, A. T., Evans, T. A., Pellicore, M. J., Davis-Marcisak, E. F., Aksit, M. A., Eastman, A. C., Patel, S. U., Paul, K. C., Osorio, D. L., Bowling, A. D., Cotton, C. U., Raraigh, K. S., West, N. E., Merlo, C. A., Cutting, G. R. & Sharma, N., Oct 1 2020, In: PLoS genetics. 16, 10, p. e1009100Research output: Contribution to journal › Article › peer-review
Open Access -
The genetics and genomics of cystic fibrosis
Sharma, N. & Cutting, G. R., Mar 2020, In: Journal of Cystic Fibrosis. 19, p. S5-S9Research output: Contribution to journal › Article › peer-review
Open Access9 Scopus citations -
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 journal › Article › peer-review
Open Access25 Scopus citations -
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., Merlo, C., Sosnay, P. R., Cutting, G. R. & Sharma, N., Sep 2019, In: Journal of Cystic Fibrosis. 18, 5, p. 606-613 8 p.Research output: Contribution to journal › Article › peer-review
Open Access12 Scopus citations -
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., 2019, In: Molecular and Cellular Proteomics. 18, 7, p. 1382-1395 14 p.Research output: Contribution to journal › Article › peer-review
Open Access4 Scopus citations -
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., Merlo, C., Gottschalk, L. B., Raraigh, K. S., Sosnay, P. R., Cotton, C. U. & Cutting, G. R., Nov 2018, In: PLoS genetics. 14, 11, e1007723.Research output: Contribution to journal › Article › peer-review
Open Access20 Scopus citations -
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 journal › Article › peer-review
Open Access32 Scopus citations -
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 journal › Article › peer-review
Open Access40 Scopus citations -
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., Milewski, M., Pandey, A. & Cutting, G. R., 2016, In: American Journal of Physiology - Lung Cellular and Molecular Physiology. 311, 6, p. L1170-L1182Research output: Contribution to journal › Article › peer-review
Open Access10 Scopus citations -
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 journal › Article › peer-review
Open Access15 Scopus citations -
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. M., 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 journal › Article › peer-review
Open Access21 Scopus citations -
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. M., Nguyen, H., Luan, S., Belchis, D., 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 journal › Article › peer-review
Open Access16 Scopus citations -
2015
Epidemiology and genetics of cystic fibrosis in Asia: In preparation for the next-generation treatments
Singh, M., Rebordosa, C., Bernholz, J. & Sharma, N., Nov 2015, In: Respirology. 20, 8, p. 1172-1181 10 p.Research output: Contribution to journal › Review article › peer-review
Open Access23 Scopus citations -
2014
Experimental Assessment of Splicing Variants Using Expression Minigenes and Comparison with In Silico Predictions
Sharma, N., Sosnay, P. R., Ramalho, A. S., Douville, C., Franca, A., Gottschalk, L. B., Park, J., Lee, M., Vecchio-Pagan, B., Raraigh, K. S., Amaral, M. D., Karchin, R. & Cutting, G. R., Oct 1 2014, In: Human mutation. 35, 10, p. 1249-1259 11 p.Research output: Contribution to journal › Article › peer-review
Open Access36 Scopus citations -
Melanocortin 3 receptor has a 5ʹ exon that directs translation of apically localized protein from the second in-frame ATG
Park, J., Sharma, N. & Cutting, G. R., Sep 1 2014, In: Molecular Endocrinology. 28, 9, p. 1547-1557 11 p.Research output: Contribution to journal › Article › peer-review
Open Access6 Scopus citations -
2013
Defining the disease liability of variants in the cystic fibrosis transmembrane conductance regulator gene
Sosnay, P. R., Siklosi, K. R., Van Goor, F., Kaniecki, K., Yu, H., Sharma, N., Ramalho, A. S., Amaral, M. D., Dorfman, R., Zielenski, J., Masica, D. L., Karchin, R., Millen, L., Thomas, P. J., Patrinos, G. P., Corey, M., Lewis, M. H., Rommens, J. M., Castellani, C., Penland, C. M., & 1 others, Oct 2013, In: Nature genetics. 45, 10, p. 1160-1167 8 p.Research output: Contribution to journal › Article › peer-review
Open Access375 Scopus citations