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Year Number of Results
2015 7
2016 6
2018 4
2019 7
2020 3
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24 results
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Non-coding genetic variants in human disease.
Zhang F, Lupski JR. Zhang F, et al. Hum Mol Genet. 2015 Oct 15;24(R1):R102-10. doi: 10.1093/hmg/ddv259. Epub 2015 Jul 7. Hum Mol Genet. 2015. PMID: 26152199 Free PMC article. Review.
Mechanisms underlying structural variant formation in genomic disorders.
Carvalho CM, Lupski JR. Carvalho CM, et al. Nat Rev Genet. 2016 Apr;17(4):224-38. doi: 10.1038/nrg.2015.25. Epub 2016 Feb 29. Nat Rev Genet. 2016. PMID: 26924765 Free PMC article. Review.
Bacteria-to-Human Protein Networks Reveal Origins of Endogenous DNA Damage.
Xia J, Chiu LY, Nehring RB, Bravo Núñez MA, Mei Q, Perez M, Zhai Y, Fitzgerald DM, Pribis JP, Wang Y, Hu CW, Powell RT, LaBonte SA, Jalali A, Matadamas Guzmán ML, Lentzsch AM, Szafran AT, Joshi MC, Richters M, Gibson JL, Frisch RL, Hastings PJ, Bates D, Queitsch C, Hilsenbeck SG, Coarfa C, Hu JC, Siegele DA, Scott KL, Liang H, Mancini MA, Herman C, Miller KM, Rosenberg SM. Xia J, et al. Cell. 2019 Jan 10;176(1-2):127-143.e24. doi: 10.1016/j.cell.2018.12.008. Cell. 2019. PMID: 30633903 Free PMC article.
Megabase Length Hypermutation Accompanies Human Structural Variation at 17p11.2.
Beck CR, Carvalho CMB, Akdemir ZC, Sedlazeck FJ, Song X, Meng Q, Hu J, Doddapaneni H, Chong Z, Chen ES, Thornton PC, Liu P, Yuan B, Withers M, Jhangiani SN, Kalra D, Walker K, English AC, Han Y, Chen K, Muzny DM, Ira G, Shaw CA, Gibbs RA, Hastings PJ, Lupski JR. Beck CR, et al. Cell. 2019 Mar 7;176(6):1310-1324.e10. doi: 10.1016/j.cell.2019.01.045. Epub 2019 Feb 28. Cell. 2019. PMID: 30827684 Free PMC article.
Gamblers: An Antibiotic-Induced Evolvable Cell Subpopulation Differentiated by Reactive-Oxygen-Induced General Stress Response.
Pribis JP, García-Villada L, Zhai Y, Lewin-Epstein O, Wang AZ, Liu J, Xia J, Mei Q, Fitzgerald DM, Bos J, Austin RH, Herman C, Bates D, Hadany L, Hastings PJ, Rosenberg SM. Pribis JP, et al. Mol Cell. 2019 May 16;74(4):785-800.e7. doi: 10.1016/j.molcel.2019.02.037. Epub 2019 Apr 1. Mol Cell. 2019. PMID: 30948267 Free PMC article.
Ten years of Genome Medicine.
Auffray C, Griffin JL, Khoury MJ, Lupski JR, Schwab M. Auffray C, et al. Genome Med. 2019 Feb 15;11(1):7. doi: 10.1186/s13073-019-0618-x. Genome Med. 2019. PMID: 30767786 Free PMC article. No abstract available.
Oxygen and RNA in stress-induced mutation.
Correa R, Thornton PC, Rosenberg SM, Hastings PJ. Correa R, et al. Curr Genet. 2018 Aug;64(4):769-776. doi: 10.1007/s00294-017-0801-9. Epub 2018 Jan 2. Curr Genet. 2018. PMID: 29294174 Free PMC article. Review.
Xq22 deletions and correlation with distinct neurological disease traits in females: Further evidence for a contiguous gene syndrome.
Hijazi H, Coelho FS, Gonzaga-Jauregui C, Bernardini L, Mar SS, Manning MA, Hanson-Kahn A, Naidu S, Srivastava S, Lee JA, Jones JR, Friez MJ, Alberico T, Torres B, Fang P, Cheung SW, Song X, Davis-Williams A, Jornlin C, Wight PA, Patyal P, Taube J, Poretti A, Inoue K, Zhang F, Pehlivan D, Carvalho CMB, Hobson GM, Lupski JR. Hijazi H, et al. Hum Mutat. 2020 Jan;41(1):150-168. doi: 10.1002/humu.23902. Epub 2019 Nov 14. Hum Mutat. 2020. PMID: 31448840 Free PMC article.
Distinct patterns of complex rearrangements and a mutational signature of microhomeology are frequently observed in PLP1 copy number gain structural variants.
Bahrambeigi V, Song X, Sperle K, Beck CR, Hijazi H, Grochowski CM, Gu S, Seeman P, Woodward KJ, Carvalho CMB, Hobson GM, Lupski JR. Bahrambeigi V, et al. Genome Med. 2019 Dec 9;11(1):80. doi: 10.1186/s13073-019-0676-0. Genome Med. 2019. PMID: 31818324 Free PMC article.
Targeted Treatment of Individuals With Psychosis Carrying a Copy Number Variant Containing a Genomic Triplication of the Glycine Decarboxylase Gene.
Bodkin JA, Coleman MJ, Godfrey LJ, Carvalho CMB, Morgan CJ, Suckow RF, Anderson T, Öngür D, Kaufman MJ, Lewandowski KE, Siegel AJ, Waldstreicher E, Grochowski CM, Javitt DC, Rujescu D, Hebbring S, Weinshilboum R, Rodriguez SB, Kirchhoff C, Visscher T, Vuckovic A, Fialkowski A, McCarthy S, Malhotra D, Sebat J, Goff DC, Hudson JI, Lupski JR, Coyle JT, Rudolph U, Levy DL. Bodkin JA, et al. Biol Psychiatry. 2019 Oct 1;86(7):523-535. doi: 10.1016/j.biopsych.2019.04.031. Epub 2019 May 9. Biol Psychiatry. 2019. PMID: 31279534 Free PMC article. Clinical Trial.
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