Sosnay PR - Search Results

1

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. Raraigh KS, et al. Among authors: sosnay pr. Am J Hum Genet. 2018 Jun 7;102(6):1062-1077. doi: 10.1016/j.ajhg.2018.04.003. Epub 2018 May 24. Am J Hum Genet. 2018. PMID: 29805046 Free PMC article.

2

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. Aksit MA, et al. Among authors: sosnay pr. J Cyst Fibros. 2019 Sep;18(5):606-613. doi: 10.1016/j.jcf.2019.02.009. Epub 2019 Feb 23. J Cyst Fibros. 2019. PMID: 30803905 Free PMC article.

3

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

Masica DL, Sosnay PR, Cutting GR, Karchin R. Masica DL, et al. Among authors: sosnay pr. Hum Mutat. 2012 Aug;33(8):1267-74. doi: 10.1002/humu.22110. Epub 2012 May 22. Hum Mutat. 2012. PMID: 22573477 Free PMC article.

4

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. Sosnay PR, et al. Nat Genet. 2013 Oct;45(10):1160-7. doi: 10.1038/ng.2745. Epub 2013 Aug 25. Nat Genet. 2013. PMID: 23974870 Free PMC article.

5

Interpretation of genetic variants.

Sosnay PR, Cutting GR. Sosnay PR, et al. Thorax. 2014 Mar;69(3):295-7. doi: 10.1136/thoraxjnl-2013-204903. Epub 2013 Dec 16. Thorax. 2014. PMID: 24343785 Free PMC article.

6

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. Sharma N, et al. Among authors: sosnay pr. Hum Mutat. 2014 Oct;35(10):1249-59. doi: 10.1002/humu.22624. Epub 2014 Sep 10. Hum Mutat. 2014. PMID: 25066652 Free PMC article.

7

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. Masica DL, et al. Among authors: sosnay pr. Hum Mol Genet. 2015 Apr 1;24(7):1908-17. doi: 10.1093/hmg/ddu607. Epub 2014 Dec 8. Hum Mol Genet. 2015. PMID: 25489051 Free PMC article.

8

Bias in CFTR screening panels.

Sosnay PR, Castellani C, Penland CM, Rommens JM, Lewis M, Raraigh KS, Corey M, Cutting GR. Sosnay PR, et al. Genet Med. 2016 Feb;18(2):209. doi: 10.1038/gim.2015.105. Epub 2015 Oct 29. Genet Med. 2016. PMID: 26513347 Free PMC article. No abstract available.

9

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

Sosnay PR, Raraigh KS, Gibson RL. Sosnay PR, et al. Pediatr Clin North Am. 2016 Aug;63(4):585-98. doi: 10.1016/j.pcl.2016.04.002. Pediatr Clin North Am. 2016. PMID: 27469177 Review.

10

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. Sharma N, et al. Among authors: sosnay pr. PLoS Genet. 2018 Nov 16;14(11):e1007723. doi: 10.1371/journal.pgen.1007723. eCollection 2018 Nov. PLoS Genet. 2018. PMID: 30444886 Free PMC article.

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