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

Results by year

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1998 1
2003 1
2004 2
2006 1
2007 1
2008 1
2009 2
2010 1
2012 3
2013 2
2014 6
2015 4
2016 7
2017 3
2018 8
2019 9
2020 7
2021 4
2022 3
2024 1

Text availability

Article attribute

Article type

Publication date

Search Results

54 results

Results by year

Filters applied: . Clear all
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.
Recommendations for application of the functional evidence PS3/BS3 criterion using the ACMG/AMP sequence variant interpretation framework.
Brnich SE, Abou Tayoun AN, Couch FJ, Cutting GR, Greenblatt MS, Heinen CD, Kanavy DM, Luo X, McNulty SM, Starita LM, Tavtigian SV, Wright MW, Harrison SM, Biesecker LG, Berg JS; Clinical Genome Resource Sequence Variant Interpretation Working Group. Brnich SE, et al. Genome Med. 2019 Dec 31;12(1):3. doi: 10.1186/s13073-019-0690-2. Genome Med. 2019. PMID: 31892348 Free PMC article.
C FTR variants are associated with chronic bronchitis in smokers.
Saferali A, Qiao D, Kim W, Raraigh K, Levy H, Diaz AA, Cutting GR, Cho MH, Hersh CP; NHLBI TransOmics in Precision Medicine (TOPMed). Saferali A, et al. Eur Respir J. 2022 Aug 10;60(2):2101994. doi: 10.1183/13993003.01994-2021. Print 2022 Aug. Eur Respir J. 2022. PMID: 34996830 Free PMC article.
The genetics and genomics of cystic fibrosis.
Sharma N, Cutting GR. Sharma N, et al. J Cyst Fibros. 2020 Mar;19 Suppl 1(Suppl 1):S5-S9. doi: 10.1016/j.jcf.2019.11.003. Epub 2019 Dec 23. J Cyst Fibros. 2020. PMID: 31879237 Free PMC article. Review.
Transformative therapies for rare CFTR missense alleles.
Oliver KE, Han ST, Sorscher EJ, Cutting GR. Oliver KE, et al. Curr Opin Pharmacol. 2017 Jun;34:76-82. doi: 10.1016/j.coph.2017.09.018. Epub 2017 Oct 13. Curr Opin Pharmacol. 2017. PMID: 29032041 Free PMC article. Review.
CFTR modulator theratyping: Current status, gaps and future directions.
Clancy JP, Cotton CU, Donaldson SH, Solomon GM, VanDevanter DR, Boyle MP, Gentzsch M, Nick JA, Illek B, Wallenburg JC, Sorscher EJ, Amaral MD, Beekman JM, Naren AP, Bridges RJ, Thomas PJ, Cutting G, Rowe S, Durmowicz AG, Mense M, Boeck KD, Skach W, Penland C, Joseloff E, Bihler H, Mahoney J, Borowitz D, Tuggle KL. Clancy JP, et al. J Cyst Fibros. 2019 Jan;18(1):22-34. doi: 10.1016/j.jcf.2018.05.004. Epub 2018 Jun 20. J Cyst Fibros. 2019. PMID: 29934203 Free PMC article. Review.
54 results