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239 results

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Page 1
Guidelines for diagnosis of cystic fibrosis in newborns through older adults: Cystic Fibrosis Foundation consensus report.
Farrell PM, Rosenstein BJ, White TB, Accurso FJ, Castellani C, Cutting GR, Durie PR, Legrys VA, Massie J, Parad RB, Rock MJ, Campbell PW 3rd; Cystic Fibrosis Foundation. Farrell PM, et al. Among authors: cutting gr. J Pediatr. 2008 Aug;153(2):S4-S14. doi: 10.1016/j.jpeds.2008.05.005. J Pediatr. 2008. PMID: 18639722 Free PMC article.
Genetic variation in severe cystic fibrosis liver disease is associated with novel mechanisms for disease pathogenesis.
Stonebraker JR, Pace RG, Gallins PJ, Dang H, Aksit MA, Faino AV, Gordon WW, MacParland S, Bamshad MJ, Gibson RL, Cutting GR, Durie PR, Wright FA, Zhou YH, Blackman SM, O'Neal WK, Ling SC, Knowles MR. Stonebraker JR, et al. Among authors: cutting gr. Hepatology. 2024 Mar 27. doi: 10.1097/HEP.0000000000000863. Online ahead of print. Hepatology. 2024. PMID: 38536042
In silico analysis and theratyping of an ultra-rare CFTR genotype (W57G/A234D) in primary human rectal and nasal epithelial cells.
Kleinfelder K, Lotti V, Eramo A, Amato F, Lo Cicero S, Castelli G, Spadaro F, Farinazzo A, Dell'Orco D, Preato S, Conti J, Rodella L, Tomba F, Cerofolini A, Baldisseri E, Bertini M, Volpi S, Villella VR, Esposito S, Zollo I, Castaldo G, Laudanna C, Sorsher EJ, Hong J, Joshi D, Cutting G, Lucarelli M, Melotti P, Sorio C. Kleinfelder K, et al. iScience. 2023 Oct 12;26(11):108180. doi: 10.1016/j.isci.2023.108180. eCollection 2023 Nov 17. iScience. 2023. PMID: 38026150 Free PMC article.
In vitro modulator responsiveness of 655 CFTR variants found in people with cystic fibrosis.
Bihler H, Sivachenko A, Millen L, Bhatt P, Patel AT, Chin J, Bailey V, Musisi I, LaPan A, Allaire NE, Conte J, Simon NR, Magaret AS, Raraigh KS, Cutting GR, Skach WR, Bridges RJ, Thomas PJ, Mense M. Bihler H, et al. Among authors: cutting gr. J Cyst Fibros. 2024 Feb 21:S1569-1993(24)00021-3. doi: 10.1016/j.jcf.2024.02.006. Online ahead of print. J Cyst Fibros. 2024. PMID: 38388235 Free article.
MagicalRsq-X: A cross-cohort transferable genotype imputation quality metric.
Sun Q, Yang Y, Rosen JD, Chen J, Li X, Guan W, Jiang MZ, Wen J, Pace RG, Blackman SM, Bamshad MJ, Gibson RL, Cutting GR, O'Neal WK, Knowles MR, Kooperberg C, Reiner AP, Raffield LM, Carson AP, Rich SS, Rotter JI, Loos RJF, Kenny E, Jaeger BC, Min YI, Fuchsberger C, Li Y. Sun Q, et al. Among authors: cutting gr. Am J Hum Genet. 2024 May 2;111(5):990-995. doi: 10.1016/j.ajhg.2024.04.001. Epub 2024 Apr 17. Am J Hum Genet. 2024. PMID: 38636510
Use of adenine base editing and homology-independent targeted integration strategies to correct the cystic fibrosis causing variant, W1282X.
Mention K, Cavusoglu-Doran K, Joynt AT, Santos L, Sanz D, Eastman AC, Merlo C, Langfelder-Schwind E, Scallan MF, Farinha CM, Cutting GR, Sharma N, Harrison PT. Mention K, et al. Among authors: cutting gr. Hum Mol Genet. 2023 Nov 17;32(23):3237-3248. doi: 10.1093/hmg/ddad143. Hum Mol Genet. 2023. PMID: 37649273 Free PMC article.
Protospacer modification improves base editing of a canonical splice site variant and recovery of CFTR function in human airway epithelial cells.
Joynt AT, Kavanagh EW, Newby GA, Mitchell S, Eastman AC, Paul KC, Bowling AD, Osorio DL, Merlo CA, Patel SU, Raraigh KS, Liu DR, Sharma N, Cutting GR. Joynt AT, et al. Among authors: cutting gr. Mol Ther Nucleic Acids. 2023 Jun 29;33:335-350. doi: 10.1016/j.omtn.2023.06.020. eCollection 2023 Sep 12. Mol Ther Nucleic Acids. 2023. PMID: 37547293 Free PMC article.
Using the ACMG/AMP framework to capture evidence related to predicted and observed impact on splicing: Recommendations from the ClinGen SVI Splicing Subgroup.
Walker LC, Hoya M, Wiggins GAR, Lindy A, Vincent LM, Parsons MT, Canson DM, Bis-Brewer D, Cass A, Tchourbanov A, Zimmermann H, Byrne AB, Pesaran T, Karam R, Harrison SM, Spurdle AB; ClinGen Sequence Variant Interpretation Working Group. Walker LC, et al. Am J Hum Genet. 2023 Jul 6;110(7):1046-1067. doi: 10.1016/j.ajhg.2023.06.002. Epub 2023 Jun 22. Am J Hum Genet. 2023. PMID: 37352859 Free PMC article.
239 results