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Brenner, Steven E
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ResearcherID: A-8729-2008
URL: http://www.researcherid.com/rid/A-8729-2008
Subject: Biochemistry & Molecular Biology; Biophysics; Computer Science; Evolutionary Biology; Genetics & Heredity; Life Sciences & Biomedicine - Other; Mathematical & Computational Biology; Medical Informatics; Microbiology
Keywords: computational genomics; alternative splicing; rna surveillance; nonsense-mediated mrna decay; nmd; personal genome interpretation; metagenomics; bioinformatics; genomics; structural genomics; protein structure; protein function prediction; computational biology; rna structure; rna function; phylogenomics; structural biology; evolutionary biology
ORCID: http://orcid.org/0000-0001-7559-6185
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This list contains papers that I have authored.

publication(s)  
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1.  Title: A novel PRRT2   pathogenic variant in a family with paroxysmal kinesigenic dyskinesia and benign familial infantile seizures.
 Author(s): Lu, J. G.; Bishop, J.; Cheyette, S.; et al.
 Source: Cold Spring Harb Mol Case Stud Volume: 4 Issue: 1 Published: 2018
 DOI: 10.1101/mcs.a002287 /  Author-provided URL : https://www.ncbi.nlm.nih.gov/pubmed/29167286
added
05-Jul-18
2.  Title: KBase: The United States Department of Energy Systems Biology Knowledgebase
 Author(s): Arkin, A. P.; Cottingham, R. W.; Henry, C. S.; et al.
 Source: Nat Biotechnol Volume: 36 Issue: 7 Pages: 566-569 Published: 2018
 DOI: 10.1038/nbt.4163 /  Author-provided URL : https://www.ncbi.nlm.nih.gov/pubmed/29979655
added
08-Jan-19
3.  Title: Methods and tools for assessing the impact of genetic variations: The 2017 Annual Scientific Meeting of the Human Genome Variation Society
 Author(s): Oetting, W. S.; Béroud, C.; Brenner, S. E.; et al.
 Source: Hum Mutat Volume: 39 Issue: 3 Pages: 454-458 Published: 2018
 DOI: 10.1002/humu.23393 /  Author-provided URL : https://www.ncbi.nlm.nih.gov/pubmed/29282786
added
05-Jul-18
4.  Title: Modeling the ACMG/AMP variant classification guidelines as a Bayesian classification framework
 Author(s): Tavtigian, S. V.; Greenblatt, M. S.; Harrison, S. M.; et al.
 Source: Genet Med Volume: 20 Issue: 9 Pages: 1054-1060 Published: 2018
 DOI: 10.1038/gim.2017.210 /  Author-provided URL : https://www.ncbi.nlm.nih.gov/pubmed/29300386
added
08-Jan-19
5.  Title: PRECISION MEDICINE: FROM DIPLOTYPES TO DISPARITIES TOWARDS IMPROVED HEALTH AND THERAPIES
 Author(s): Crawford, D. C.; Morgan, A. A.; Denny, J. C.; et al.
 Source: Pac Symp Biocomput Volume: 23 Pages: 389-399 Published: 2018
 Author-provided URL : https://www.ncbi.nlm.nih.gov/pubmed/29218899
added
05-Jul-18
6.  Title: Putting benchmarks in their rightful place: The heart of computational biology
 Author(s): Peters, B.; Brenner, S. E.; Wang, E.; et al.
 Source: PLoS Comput Biol Volume: 14 Issue: 11 Pages: e1006494 Published: 2018
 DOI: 10.1371/journal.pcbi.1006494 /  Author-provided URL : https://www.ncbi.nlm.nih.gov/pubmed/30408027
added
08-Jan-19
7.  Title: Recommendations for interpreting the loss of function PVS1 ACMG/AMP variant criterion
 Author(s): Abou Tayoun, A. N.; Pesaran, T.; DiStefano, M. T.; et al.
 Source: Hum Mutat Volume: 39 Issue: 11 Pages: 1517-1524 Published: 2018
 DOI: 10.1002/humu.23626 /  Author-provided URL : https://www.ncbi.nlm.nih.gov/pubmed/30192042
added
08-Jan-19
8.  Title: Registered access: authorizing data access
 Author(s): Dyke, S. O. M.; Linden, M.; Lappalainen, I.; et al.
 Source: Eur J Hum Genet Volume: 26 Issue: 12 Pages: 1721-1731 Published: 2018
 DOI: 10.1038/s41431-018-0219-y /  Author-provided URL : https://www.ncbi.nlm.nih.gov/pubmed/30069064
added
08-Jan-19
9.  Title: SCOPe: classification of large macromolecular structures in the structural classification of proteins-extended database
 Author(s): Chandonia, J. M.; Fox, N. K.; Brenner, S. E.
 Source: Nucleic Acids Res Published: 2018
 DOI: 10.1093/nar/gky1134 /  Author-provided URL : https://www.ncbi.nlm.nih.gov/pubmed/30500919
added
08-Jan-19
10.  Title: The ACMG/AMP reputable source criteria for the interpretation of sequence variants
 Author(s): Biesecker, L. G.; Harrison, S. M.
 Source: Genet Med Published: 2018
 DOI: 10.1038/gim.2018.42 /  Author-provided URL : https://www.ncbi.nlm.nih.gov/pubmed/29543229
added
08-Jan-19
publication(s)  
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