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Items: 29


Efficacy and safety of the elexacaftor plus tezacaftor plus ivacaftor combination regimen in people with cystic fibrosis homozygous for the F508del mutation: a double-blind, randomised, phase 3 trial.

Heijerman HGM, McKone EF, Downey DG, Van Braeckel E, Rowe SM, Tullis E, Mall MA, Welter JJ, Ramsey BW, McKee CM, Marigowda G, Moskowitz SM, Waltz D, Sosnay PR, Simard C, Ahluwalia N, Xuan F, Zhang Y, Taylor-Cousar JL, McCoy KS; VX17-445-103 Trial Group.

Lancet. 2019 Nov 23;394(10212):1940-1948. doi: 10.1016/S0140-6736(19)32597-8. Epub 2019 Oct 31.


Correlating Cystic Fibrosis Transmembrane Conductance Regulator Function with Clinical Features to Inform Precision Treatment of Cystic Fibrosis.

McCague AF, Raraigh KS, Pellicore MJ, Davis-Marcisak EF, Evans TA, Han ST, Lu Z, Joynt AT, Sharma N, Castellani C, Collaco JM, Corey M, Lewis MH, Penland CM, Rommens JM, Stephenson AL, Sosnay PR, Cutting GR.

Am J Respir Crit Care Med. 2019 May 1;199(9):1116-1126. doi: 10.1164/rccm.201901-0145OC.


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

Aksit MA, Bowling AD, Evans TA, Joynt AT, Osorio D, Patel S, West N, Merlo C, Sosnay PR, Cutting GR, Sharma N.

J Cyst Fibros. 2019 Sep;18(5):606-613. doi: 10.1016/j.jcf.2019.02.009. Epub 2019 Feb 23.


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

Sharma N, Evans TA, Pellicore MJ, Davis E, Aksit MA, McCague AF, Joynt AT, Lu Z, Han ST, Anzmann AF, Lam AN, Thaxton A, West N, Merlo C, Gottschalk LB, Raraigh KS, Sosnay PR, Cotton CU, Cutting GR.

PLoS Genet. 2018 Nov 16;14(11):e1007723. doi: 10.1371/journal.pgen.1007723. eCollection 2018 Nov.


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

Raraigh KS, Han ST, Davis E, Evans TA, Pellicore MJ, McCague AF, Joynt AT, Lu Z, Atalar M, Sharma N, Sheridan MB, Sosnay PR, Cutting GR.

Am J Hum Genet. 2018 Jun 7;102(6):1062-1077. doi: 10.1016/j.ajhg.2018.04.003. Epub 2018 May 24.


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

Choi DH, Thaxton A, Jeong IC, Kim K, Sosnay PR, Cutting GR, Searson PC.

J Cyst Fibros. 2018 Jul;17(4):e35-e38. doi: 10.1016/j.jcf.2018.03.005. Epub 2018 Mar 23.


Diagnosis of Cystic Fibrosis in Nonscreened Populations.

Sosnay PR, White TB, Farrell PM, Ren CL, Derichs N, Howenstine MS, Nick JA, De Boeck K.

J Pediatr. 2017 Feb;181S:S52-S57.e2. doi: 10.1016/j.jpeds.2016.09.068.


Diagnosis of Cystic Fibrosis: Consensus Guidelines from the Cystic Fibrosis Foundation.

Farrell PM, White TB, Ren CL, Hempstead SE, Accurso F, Derichs N, Howenstine M, McColley SA, Rock M, Rosenfeld M, Sermet-Gaudelus I, Southern KW, Marshall BC, Sosnay PR.

J Pediatr. 2017 Feb;181S:S4-S15.e1. doi: 10.1016/j.jpeds.2016.09.064. Erratum in: J Pediatr. 2017 May;184:243.


Applying Cystic Fibrosis Transmembrane Conductance Regulator Genetics and CFTR2 Data to Facilitate Diagnoses.

Sosnay PR, Salinas DB, White TB, Ren CL, Farrell PM, Raraigh KS, Girodon E, Castellani C.

J Pediatr. 2017 Feb;181S:S27-S32.e1. doi: 10.1016/j.jpeds.2016.09.063.


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

Sharma N, LaRusch J, Sosnay PR, Gottschalk LB, Lopez AP, Pellicore MJ, Evans T, Davis E, Atalar M, Na CH, Rosson GD, Belchis D, Milewski M, Pandey A, Cutting GR.

Am J Physiol Lung Cell Mol Physiol. 2016 Dec 1;311(6):L1170-L1182. doi: 10.1152/ajplung.00363.2016. Epub 2016 Oct 28.


Design, Implementation, and Evaluation of a Simulation-Based Clinical Correlation Curriculum as an Adjunctive Pedagogy in an Anatomy Course.

Coombs CM, Shields RY, Hunt EA, Lum YW, Sosnay PR, Perretta JS, Lieberman RH, Shilkofski NA.

Acad Med. 2017 Apr;92(4):494-500. doi: 10.1097/ACM.0000000000001387.


Molecular Genetics of Cystic Fibrosis Transmembrane Conductance Regulator: Genotype and Phenotype.

Sosnay PR, Raraigh KS, Gibson RL.

Pediatr Clin North Am. 2016 Aug;63(4):585-98. doi: 10.1016/j.pcl.2016.04.002. Review.


Sources of Variation in Sweat Chloride Measurements in Cystic Fibrosis.

Collaco JM, Blackman SM, Raraigh KS, Corvol H, Rommens JM, Pace RG, Boelle PY, McGready J, Sosnay PR, Strug LJ, Knowles MR, Cutting GR.

Am J Respir Crit Care Med. 2016 Dec 1;194(11):1375-1382.


Benign and Deleterious Cystic Fibrosis Transmembrane Conductance Regulator Mutations Identified by Sequencing in Positive Cystic Fibrosis Newborn Screen Children from California.

Salinas DB, Sosnay PR, Azen C, Young S, Raraigh KS, Keens TG, Kharrazi M.

PLoS One. 2016 May 23;11(5):e0155624. doi: 10.1371/journal.pone.0155624. eCollection 2016.


Clinical Phenotypes and Genotypic Spectrum of Cystic Fibrosis in Chinese Children.

Shen Y, Liu J, Zhong L, Mogayzel PJ Jr, Zeitlin PL, Sosnay PR, Zhao S.

J Pediatr. 2016 Apr;171:269-76.e1. doi: 10.1016/j.jpeds.2015.12.025. Epub 2016 Jan 27.


Challenges in Cystic Fibrosis Newborn Screening and Recommendations for Primary Care Physicians.

Sosnay PR, Farrell P.

Pediatrics. 2015 Dec;136(6):1181-4. doi: 10.1542/peds.2015-3490. Epub 2015 Nov 16. No abstract available.


Bias in CFTR screening panels.

Sosnay PR, Castellani C, Penland CM, Rommens JM, Lewis M, Raraigh KS, Corey M, Cutting GR.

Genet Med. 2016 Feb;18(2):209. doi: 10.1038/gim.2015.105. Epub 2015 Oct 29. No abstract available.


Benign outcome among positive cystic fibrosis newborn screen children with non-CF-causing variants.

Salinas DB, Sosnay PR, Azen C, Young S, Raraigh KS, Keens TG, Kharrazi M.

J Cyst Fibros. 2015 Nov;14(6):714-9. doi: 10.1016/j.jcf.2015.03.006. Epub 2015 Mar 29.


Missense variants in CFTR nucleotide-binding domains predict quantitative phenotypes associated with cystic fibrosis disease severity.

Masica DL, Sosnay PR, Raraigh KS, Cutting GR, Karchin R.

Hum Mol Genet. 2015 Apr 1;24(7):1908-17. doi: 10.1093/hmg/ddu607. Epub 2014 Dec 8.


Experimental assessment of splicing variants using expression minigenes and comparison with in silico predictions.

Sharma N, Sosnay PR, Ramalho AS, Douville C, Franca A, Gottschalk LB, Park J, Lee M, Vecchio-Pagan B, Raraigh KS, Amaral MD, Karchin R, Cutting GR.

Hum Mutat. 2014 Oct;35(10):1249-59. doi: 10.1002/humu.22624. Epub 2014 Sep 10.


Interpretation of genetic variants.

Sosnay PR, Cutting GR.

Thorax. 2014 Mar;69(3):295-7. doi: 10.1136/thoraxjnl-2013-204903. Epub 2013 Dec 16.


Defining the disease liability of variants in the cystic fibrosis transmembrane conductance regulator gene.

Sosnay PR, Siklosi KR, Van Goor F, Kaniecki K, Yu H, Sharma N, Ramalho AS, Amaral MD, Dorfman R, Zielenski J, Masica DL, Karchin R, Millen L, Thomas PJ, Patrinos GP, Corey M, Lewis MH, Rommens JM, Castellani C, Penland CM, Cutting GR.

Nat Genet. 2013 Oct;45(10):1160-7. doi: 10.1038/ng.2745. Epub 2013 Aug 25.


Phenotype-optimized sequence ensembles substantially improve prediction of disease-causing mutation in cystic fibrosis.

Masica DL, Sosnay PR, Cutting GR, Karchin R.

Hum Mutat. 2012 Aug;33(8):1267-74. doi: 10.1002/humu.22110. Epub 2012 May 22.


The Novel CFTR Mutation A457P in a Male with a Delayed Diagnosis of Cystic Fibrosis.

Cole KH, Sosnay PR, Yarmus LB, Zuckerman JB.

Case Rep Med. 2011;2011:903910. doi: 10.1155/2011/903910. Epub 2011 Dec 13.


Evaluation of the disease liability of CFTR variants.

Sosnay PR, Castellani C, Corey M, Dorfman R, Zielenski J, Karchin R, Penland CM, Cutting GR.

Methods Mol Biol. 2011;742:355-72. doi: 10.1007/978-1-61779-120-8_21.


Mutations that permit residual CFTR function delay acquisition of multiple respiratory pathogens in CF patients.

Green DM, McDougal KE, Blackman SM, Sosnay PR, Henderson LB, Naughton KM, Collaco JM, Cutting GR.

Respir Res. 2010 Oct 8;11:140. doi: 10.1186/1465-9921-11-140.


Swelling and weakness.

Schneider JG, Troy P, Sosnay PR.

Am J Med. 2006 Jul;119(7):574-6. No abstract available.


Images in clinical medicine. Hypothyroid-induced hyporeflexia.

Sosnay PR, Kim S.

N Engl J Med. 2006 Jun 29;354(26):e27. No abstract available.


Overexpression of the R2 subunit of ribonucleotide reductase in human nasopharyngeal cancer cells reduces radiosensitivity.

Kuo ML, Hwang HS, Sosnay PR, Kunugi KA, Kinsella TJ.

Cancer J. 2003 Jul-Aug;9(4):277-85.


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