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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. Collaco JM, et al. Among authors: sosnay pr. Am J Respir Crit Care Med. 2016 Dec 1;194(11):1375-1382. doi: 10.1164/rccm.201603-0459OC. Am J Respir Crit Care Med. 2016. PMID: 27258095 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.
Ethnicity impacts the cystic fibrosis diagnosis: A note of caution.
Bosch B, Bilton D, Sosnay P, Raraigh KS, Mak DYF, Ishiguro H, Gulmans V, Thomas M, Cuppens H, Amaral M, De Boeck K. Bosch B, et al. J Cyst Fibros. 2017 Jul;16(4):488-491. doi: 10.1016/j.jcf.2017.01.016. Epub 2017 Feb 21. J Cyst Fibros. 2017. PMID: 28233695 Free article.
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.
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.
34 results