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
2002 6
2003 2
2004 13
2005 10
2006 5
2007 6
2008 2
2009 7
2010 7
2011 5
2012 3
2013 11
2014 6
2015 9
2016 10
2017 10
2018 6
2019 16
2020 3
2021 4
2022 6
2023 7
2024 3

Text availability

Article attribute

Article type

Publication date

Search Results

147 results

Results by year

Filters applied: . Clear all
Page 1
Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.
Pejaver V, Byrne AB, Feng BJ, Pagel KA, Mooney SD, Karchin R, O'Donnell-Luria A, Harrison SM, Tavtigian SV, Greenblatt MS, Biesecker LG, Radivojac P, Brenner SE; ClinGen Sequence Variant Interpretation Working Group. Pejaver V, et al. Among authors: brenner se. Am J Hum Genet. 2022 Dec 1;109(12):2163-2177. doi: 10.1016/j.ajhg.2022.10.013. Epub 2022 Nov 21. Am J Hum Genet. 2022. PMID: 36413997 Free PMC article.
The role of exome sequencing in newborn screening for inborn errors of metabolism.
Adhikari AN, Gallagher RC, Wang Y, Currier RJ, Amatuni G, Bassaganyas L, Chen F, Kundu K, Kvale M, Mooney SD, Nussbaum RL, Randi SS, Sanford J, Shieh JT, Srinivasan R, Sunderam U, Tang H, Vaka D, Zou Y, Koenig BA, Kwok PY, Risch N, Puck JM, Brenner SE. Adhikari AN, et al. Among authors: brenner se. Nat Med. 2020 Sep;26(9):1392-1397. doi: 10.1038/s41591-020-0966-5. Epub 2020 Aug 10. Nat Med. 2020. PMID: 32778825 Free PMC article.
Using the ACMG/AMP framework to capture evidence related to predicted and observed impact on splicing: Recommendations from the ClinGen SVI Splicing Subgroup.
Walker LC, Hoya M, Wiggins GAR, Lindy A, Vincent LM, Parsons MT, Canson DM, Bis-Brewer D, Cass A, Tchourbanov A, Zimmermann H, Byrne AB, Pesaran T, Karam R, Harrison SM, Spurdle AB; ClinGen Sequence Variant Interpretation Working Group. Walker LC, et al. Am J Hum Genet. 2023 Jul 6;110(7):1046-1067. doi: 10.1016/j.ajhg.2023.06.002. Epub 2023 Jun 22. Am J Hum Genet. 2023. PMID: 37352859 Free PMC article.
WebLogo: a sequence logo generator.
Crooks GE, Hon G, Chandonia JM, Brenner SE. Crooks GE, et al. Among authors: brenner se. Genome Res. 2004 Jun;14(6):1188-90. doi: 10.1101/gr.849004. Genome Res. 2004. PMID: 15173120 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.
Developing computational biology.
Bourne PE, Brenner SE. Bourne PE, et al. Among authors: brenner se. PLoS Comput Biol. 2007 Sep;3(9):1669. doi: 10.1371/journal.pcbi.0030157. PLoS Comput Biol. 2007. PMID: 17907793 Free PMC article. No abstract available.
Sulfotransferases and sulfatases in mycobacteria.
Mougous JD, Green RE, Williams SJ, Brenner SE, Bertozzi CR. Mougous JD, et al. Among authors: brenner se. Chem Biol. 2002 Jul;9(7):767-76. doi: 10.1016/s1074-5521(02)00175-8. Chem Biol. 2002. PMID: 12144918 Review.
The evolving roles of alternative splicing.
Lareau LF, Green RE, Bhatnagar RS, Brenner SE. Lareau LF, et al. Among authors: brenner se. Curr Opin Struct Biol. 2004 Jun;14(3):273-82. doi: 10.1016/j.sbi.2004.05.002. Curr Opin Struct Biol. 2004. PMID: 15193306 Free article. Review.
Opportunities and challenges for the computational interpretation of rare variation in clinically important genes.
McInnes G, Sharo AG, Koleske ML, Brown JEH, Norstad M, Adhikari AN, Wang S, Brenner SE, Halpern J, Koenig BA, Magnus DC, Gallagher RC, Giacomini KM, Altman RB. McInnes G, et al. Among authors: brenner se. Am J Hum Genet. 2021 Apr 1;108(4):535-548. doi: 10.1016/j.ajhg.2021.03.003. Am J Hum Genet. 2021. PMID: 33798442 Free PMC article. Review.
147 results