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    Norman Arnheim, PhD

    TitleProfessor The Ester Dornsife Chair in Biological Sciences
    SchoolKeck School of Medicine of USC
    DepartmentBroad CIRM Center
    AddressRRI 319C
    University Park Campus
    Los Angeles California 90089-2910
    Phone+1 213 740 7675
    vCardDownload vCard

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      Publications listed below are automatically derived from MEDLINE/PubMed and other sources, which might result in incorrect or missing publications. Researchers can login to make corrections and additions, or contact us for help.
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      1. Arnheim N, Calabrese P. Germline Stem Cell Competition, Mutation Hot Spots, Genetic Disorders, and Older Fathers. Annu Rev Genomics Hum Genet. 2016 Aug 31; 17:219-43. PMID: 27070266; PMCID: PMC5007215 [Available on 08/31/17].
      2. Shinde DN, Elmer DP, Calabrese P, Boulanger J, Arnheim N, Tiemann-Boege I. New evidence for positive selection helps explain the paternal age effect observed in achondroplasia. Hum Mol Genet. 2013 Oct 15; 22(20):4117-26. PMID: 23740942; PMCID: PMC3781639.
      3. Yoon SR, Choi SK, Eboreime J, Gelb BD, Calabrese P, Arnheim N. Age-dependent germline mosaicism of the most common noonan syndrome mutation shows the signature of germline selection. Am J Hum Genet. 2013 Jun 06; 92(6):917-26. PMID: 23726368; PMCID: PMC3682763.
      4. Choi SK, Yoon SR, Calabrese P, Arnheim N. Positive selection for new disease mutations in the human germline: evidence from the heritable cancer syndrome multiple endocrine neoplasia type 2B. PLoS Genet. 2012; 8(2):e1002420. PMID: 22359510; PMCID: PMC3280958.
      5. Tiemann-Boege I, Curtis C, Shinde DN, Goodman DB, Tavaré S, Arnheim N. Product length, dye choice, and detection chemistry in the bead-emulsion amplification of millions of single DNA molecules in parallel. Anal Chem. 2009 Jul 15; 81(14):5770-6. PMID: 19601653; PMCID: PMC2733210.
      6. Yoon SR, Qin J, Glaser RL, Jabs EW, Wexler NS, Sokol R, Arnheim N, Calabrese P. The ups and downs of mutation frequencies during aging can account for the Apert syndrome paternal age effect. PLoS Genet. 2009 Jul; 5(7):e1000558. PMID: 19593369; PMCID: PMC2700275.
      7. Arnheim N, Calabrese P. Understanding what determines the frequency and pattern of human germline mutations. Nat Rev Genet. 2009 Jul; 10(7):478-88. PMID: 19488047; PMCID: PMC2744436.
      8. Qin J, Subramanian J, Arnheim N. Detection of meiotic DNA breaks in mouse testicular germ cells. Methods Mol Biol. 2009; 557:165-81. PMID: 19799182.
        View in: PubMed
      9. Choi SK, Yoon SR, Calabrese P, Arnheim N. A germ-line-selective advantage rather than an increased mutation rate can explain some unexpectedly common human disease mutations. Proc Natl Acad Sci U S A. 2008 Jul 22; 105(29):10143-8. PMID: 18632557; PMCID: PMC2474563.
      10. Qin J, Calabrese P, Tiemann-Boege I, Shinde DN, Yoon SR, Gelfand D, Bauer K, Arnheim N. The molecular anatomy of spontaneous germline mutations in human testes. PLoS Biol. 2007 Sep; 5(9):e224. PMID: 17760502; PMCID: PMC1951783.
      11. Shelbourne PF, Keller-McGandy C, Bi WL, Yoon SR, Dubeau L, Veitch NJ, Vonsattel JP, Wexler NS, Arnheim N, Augood SJ. Triplet repeat mutation length gains correlate with cell-type specific vulnerability in Huntington disease brain. Hum Mol Genet. 2007 May 15; 16(10):1133-42. PMID: 17409200.
        View in: PubMed
      12. Arnheim N, Calabrese P, Tiemann-Boege I. Mammalian meiotic recombination hot spots. Annu Rev Genet. 2007; 41:369-99. PMID: 18076329.
        View in: PubMed
      13. Clark VJ, Ptak SE, Tiemann I, Qian Y, Coop G, Stone AC, Przeworski M, Arnheim N, Di Rienzo A. Combining sperm typing and linkage disequilibrium analyses reveals differences in selective pressures or recombination rates across human populations. Genetics. 2007 Feb; 175(2):795-804. PMID: 17151245; PMCID: PMC1800598.
      14. Tiemann-Boege I, Calabrese P, Cochran DM, Sokol R, Arnheim N. High-resolution recombination patterns in a region of human chromosome 21 measured by sperm typing. PLoS Genet. 2006 May; 2(5):e70. PMID: 16680198; PMCID: PMC1456319.
      15. Wesoly J, Agarwal S, Sigurdsson S, Bussen W, Van Komen S, Qin J, van Steeg H, van Benthem J, Wassenaar E, Baarends WM, Ghazvini M, Tafel AA, Heath H, Galjart N, Essers J, Grootegoed JA, Arnheim N, Bezzubova O, Buerstedde JM, Sung P, Kanaar R. Differential contributions of mammalian Rad54 paralogs to recombination, DNA damage repair, and meiosis. Mol Cell Biol. 2006 Feb; 26(3):976-89. PMID: 16428451; PMCID: PMC1347043.
      16. Chen PC, Dudley S, Hagen W, Dizon D, Paxton L, Reichow D, Yoon SR, Yang K, Arnheim N, Liskay RM, Lipkin SM. Contributions by MutL homologues Mlh3 and Pms2 to DNA mismatch repair and tumor suppression in the mouse. Cancer Res. 2005 Oct 01; 65(19):8662-70. PMID: 16204034.
        View in: PubMed
      17. Subramanian J, Vijayakumar S, Tomkinson AE, Arnheim N. Genetic instability induced by overexpression of DNA ligase I in budding yeast. Genetics. 2005 Oct; 171(2):427-41. PMID: 15965249; PMCID: PMC1456761.
      18. Wexler NS, Lorimer J, Porter J, Gomez F, Moskowitz C, Shackell E, Marder K, Penchaszadeh G, Roberts SA, Gayán J, Brocklebank D, Cherny SS, Cardon LR, Gray J, Dlouhy SR, Wiktorski S, Hodes ME, Conneally PM, Penney JB, Gusella J, Cha JH, Irizarry M, Rosas D, Hersch S, Hollingsworth Z, MacDonald M, Young AB, Andresen JM, Housman DE, De Young MM, Bonilla E, Stillings T, Negrette A, Snodgrass SR, Martinez-Jaurrieta MD, Ramos-Arroyo MA, Bickham J, Ramos JS, Marshall F, Shoulson I, Rey GJ, Feigin A, Arnheim N, Acevedo-Cruz A, Acosta L, Alvir J, Fischbeck K, Thompson LM, Young A, Dure L, O'Brien CJ, Paulsen J, Brickman A, Krch D, Peery S, Hogarth P, Higgins DS, Landwehrmeyer B. Venezuelan kindreds reveal that genetic and environmental factors modulate Huntington's disease age of onset. Proc Natl Acad Sci U S A. 2004 Mar 09; 101(10):3498-503. PMID: 14993615; PMCID: PMC373491.
      19. Qin J, Richardson LL, Jasin M, Handel MA, Arnheim N. Mouse strains with an active H2-Ea meiotic recombination hot spot exhibit increased levels of H2-Ea-specific DNA breaks in testicular germ cells. Mol Cell Biol. 2004 Feb; 24(4):1655-66. PMID: 14749381; PMCID: PMC344187.
      20. Brohede J, Arnheim N, Ellegren H. Single-molecule analysis of the hypermutable tetranucleotide repeat locus D21S1245 through sperm genotyping: a heterogeneous pattern of mutation but no clear male age effect. Mol Biol Evol. 2004 Jan; 21(1):58-64. PMID: 14530459.
        View in: PubMed
      21. Yoon SR, Dubeau L, de Young M, Wexler NS, Arnheim N. Huntington disease expansion mutations in humans can occur before meiosis is completed. Proc Natl Acad Sci U S A. 2003 Jul 22; 100(15):8834-8. PMID: 12857955; PMCID: PMC166399.
      22. Arnheim N, Calabrese P, Nordborg M. Hot and cold spots of recombination in the human genome: the reason we should find them and how this can be achieved. Am J Hum Genet. 2003 Jul; 73(1):5-16. PMID: 12772086; PMCID: PMC1180590.
      23. Nenguke T, Aladjem MI, Gusella JF, Wexler NS, Arnheim N. Candidate DNA replication initiation regions at human trinucleotide repeat disease loci. Hum Mol Genet. 2003 May 01; 12(9):1021-8. PMID: 12700170.
        View in: PubMed
      24. Shinde D, Lai Y, Sun F, Arnheim N. Taq DNA polymerase slippage mutation rates measured by PCR and quasi-likelihood analysis: (CA/GT)n and (A/T)n microsatellites. Nucleic Acids Res. 2003 Feb 01; 31(3):974-80. PMID: 12560493; PMCID: PMC149199.
      25. Lai Y, Shinde D, Arnheim N, Sun F. The mutation process of microsatellites during the polymerase chain reaction. J Comput Biol. 2003; 10(2):143-55. PMID: 12804088.
        View in: PubMed
      26. Tiemann-Boege I, Navidi W, Grewal R, Cohn D, Eskenazi B, Wyrobek AJ, Arnheim N. The observed human sperm mutation frequency cannot explain the achondroplasia paternal age effect. Proc Natl Acad Sci U S A. 2002 Nov 12; 99(23):14952-7. PMID: 12397172; PMCID: PMC137526.
      27. Lien S, Szyda J, Leeflang EP, Hubert R, Zhang L, Schmitt K, Arnheim N. Single-sperm typing. Curr Protoc Hum Genet. 2002 May; Chapter 1:Unit 1.6. PMID: 18428321.
        View in: PubMed
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