F31 NS083159/NS/NINDS NIH HHS/United States[Grant Number] - Search Results

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Subject: F31 NS083159/NS/NINDS NIH HHS/United States[Grant - PubMed

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Year	Number of Results
2013	1
2014	5
2015	7
2016	2
2018	1
2024	0

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Predicting human genes susceptible to genomic instability associated with Alu/Alu-mediated rearrangements.

Song X, Beck CR, Du R, Campbell IM, Coban-Akdemir Z, Gu S, Breman AM, Stankiewicz P, Ira G, Shaw CA, Lupski JR. Song X, et al. Genome Res. 2018 Aug;28(8):1228-1242. doi: 10.1101/gr.229401.117. Epub 2018 Jun 15. Genome Res. 2018. PMID: 29907612 Free PMC article.

A visual and curatorial approach to clinical variant prioritization and disease gene discovery in genome-wide diagnostics.

James RA, Campbell IM, Chen ES, Boone PM, Rao MA, Bainbridge MN, Lupski JR, Yang Y, Eng CM, Posey JE, Shaw CA. James RA, et al. Genome Med. 2016 Feb 2;8(1):13. doi: 10.1186/s13073-016-0261-8. Genome Med. 2016. PMID: 26838676 Free PMC article.

Multiallelic Positions in the Human Genome: Challenges for Genetic Analyses.

Campbell IM, Gambin T, Jhangiani S, Grove ML, Veeraraghavan N, Muzny DM, Shaw CA, Gibbs RA, Boerwinkle E, Yu F, Lupski JR. Campbell IM, et al. Hum Mutat. 2016 Mar;37(3):231-234. doi: 10.1002/humu.22944. Epub 2015 Dec 31. Hum Mutat. 2016. PMID: 26670213 Free PMC article.

Comparative Genomic Analyses of the Human NPHP1 Locus Reveal Complex Genomic Architecture and Its Regional Evolution in Primates.

Yuan B, Liu P, Gupta A, Beck CR, Tejomurtula A, Campbell IM, Gambin T, Simmons AD, Withers MA, Harris RA, Rogers J, Schwartz DC, Lupski JR. Yuan B, et al. PLoS Genet. 2015 Dec 7;11(12):e1005686. doi: 10.1371/journal.pgen.1005686. eCollection 2015 Dec. PLoS Genet. 2015. PMID: 26641089 Free PMC article.

DNA REPAIR. Mus81 and converging forks limit the mutagenicity of replication fork breakage.

Mayle R, Campbell IM, Beck CR, Yu Y, Wilson M, Shaw CA, Bjergbaek L, Lupski JR, Ira G. Mayle R, et al. Science. 2015 Aug 14;349(6249):742-7. doi: 10.1126/science.aaa8391. Science. 2015. PMID: 26273056 Free PMC article.

Somatic mosaicism: implications for disease and transmission genetics.

Campbell IM, Shaw CA, Stankiewicz P, Lupski JR. Campbell IM, et al. Trends Genet. 2015 Jul;31(7):382-92. doi: 10.1016/j.tig.2015.03.013. Epub 2015 Apr 21. Trends Genet. 2015. PMID: 25910407 Free PMC article. Review.

Alu-mediated diverse and complex pathogenic copy-number variants within human chromosome 17 at p13.3.

Gu S, Yuan B, Campbell IM, Beck CR, Carvalho CM, Nagamani SC, Erez A, Patel A, Bacino CA, Shaw CA, Stankiewicz P, Cheung SW, Bi W, Lupski JR. Gu S, et al. Hum Mol Genet. 2015 Jul 15;24(14):4061-77. doi: 10.1093/hmg/ddv146. Epub 2015 Apr 23. Hum Mol Genet. 2015. PMID: 25908615 Free PMC article.

Variant interpretation through Bayesian fusion of frequency and genomic knowledge.

Shaw CA, Campbell IM. Shaw CA, et al. Genome Med. 2015 Jan 28;7(1):4. doi: 10.1186/s13073-015-0129-3. eCollection 2015. Genome Med. 2015. PMID: 25632303 Free PMC article.

Genome-wide analyses of LINE-LINE-mediated nonallelic homologous recombination.

Startek M, Szafranski P, Gambin T, Campbell IM, Hixson P, Shaw CA, Stankiewicz P, Gambin A. Startek M, et al. Nucleic Acids Res. 2015 Feb 27;43(4):2188-98. doi: 10.1093/nar/gku1394. Epub 2015 Jan 22. Nucleic Acids Res. 2015. PMID: 25613453 Free PMC article.

Human endogenous retroviral elements promote genome instability via non-allelic homologous recombination.

Campbell IM, Gambin T, Dittwald P, Beck CR, Shuvarikov A, Hixson P, Patel A, Gambin A, Shaw CA, Rosenfeld JA, Stankiewicz P. Campbell IM, et al. BMC Biol. 2014 Sep 23;12:74. doi: 10.1186/s12915-014-0074-4. BMC Biol. 2014. PMID: 25246103 Free PMC article.

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