Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

Search Results

34 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
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.
Evaluation of the disease liability of CFTR variants.
Sosnay PR, Castellani C, Corey M, Dorfman R, Zielenski J, Karchin R, Penland CM, Cutting GR. Sosnay PR, et al. Methods Mol Biol. 2011;742:355-72. doi: 10.1007/978-1-61779-120-8_21. Methods Mol Biol. 2011. PMID: 21547743
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.
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.
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. McCague AF, et al. Among authors: sosnay pr. Am J Respir Crit Care Med. 2019 May 1;199(9):1116-1126. doi: 10.1164/rccm.201901-0145OC. Am J Respir Crit Care Med. 2019. PMID: 30888834 Free PMC article.
34 results