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Norman Arnheim, PhD

Title(s)Professor The Ester Dornsife Chair in Biological Sciences
SchoolKeck School of Medicine of USC
Phone+1 213 740 7675
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    Collapse Research 
    Collapse Research Activities and Funding
    MITOCHONDRIAL DNA MUTATION AND AGING
    NIH/NIA R01AG011492May 1, 1993 - Apr 30, 1996
    Role: Principal Investigator
    GENETIC AND MOLECULAR STUDIES OF RDNA
    NIH/NIGMS R01GM042942Jul 1, 1989 - Jun 30, 1992
    Role: Principal Investigator
    GENETIC AND MOLECULAR STUDIES OF RDNA
    NIH/NHGRI R01HG000328Jul 1, 1989 - Jun 30, 1992
    Role: Principal Investigator
    Genetic Analysis Using Sperm Typing
    NIH/NIGMS R01GM036745Sep 1, 1985 - Aug 31, 2018
    Role: Principal Investigator
    GENETICS STUDIES USING SPERM TYPING
    NIH/NIGMS R37GM036745Sep 1, 1985 - Mar 31, 2002
    Role: Principal Investigator
    MOLECULAR MECHANISMS OF DNA TRANSPOSITION
    NIH/NIAID R01AI019036Apr 1, 1982 - Dec 31, 1996
    Role: Co-Principal Investigator

    Collapse Bibliographic 
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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. Eboreime J, Choi SK, Yoon SR, Arnheim N, Calabrese P. Estimating Exceptionally Rare Germline and Somatic Mutation Frequencies via Next Generation Sequencing. PLoS One. 2016; 11(6):e0158340. PMID: 27341568; PMCID: PMC4920415.
      View in: PubMed, PubMed Central
    2. Arnheim N, Calabrese P. Germline Stem Cell Competition, Mutation Hot Spots, Genetic Disorders, and Older Fathers. Annu Rev Genomics Hum Genet. 2016 08 31; 17:219-43. PMID: 27070266.
      View in: PubMed
    3. 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.
      View in: PubMed, PubMed Central
    4. 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.
      View in: PubMed, PubMed Central
    5. 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.
      View in: PubMed, PubMed Central
    6. 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.
      View in: PubMed, PubMed Central
    7. 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.
      View in: PubMed, PubMed Central
    8. 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.
      View in: PubMed, PubMed Central
    9. 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
    10. 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.
      View in: PubMed, PubMed Central
    11. 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.
      View in: PubMed, PubMed Central
    12. 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
    13. Arnheim N, Calabrese P, Tiemann-Boege I. Mammalian meiotic recombination hot spots. Annu Rev Genet. 2007; 41:369-99. PMID: 18076329.
      View in: PubMed
    14. 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.
      View in: PubMed, PubMed Central
    15. 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.
      View in: PubMed, PubMed Central
    16. 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.
      View in: PubMed, PubMed Central
    17. 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
    18. 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.
      View in: PubMed, PubMed Central
    19. 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.
      View in: PubMed, PubMed Central
    20. 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.
      View in: PubMed, PubMed Central
    21. 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
    22. 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.
      View in: PubMed, PubMed Central
    23. 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.
      View in: PubMed, PubMed Central
    24. 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
    25. 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.
      View in: PubMed, PubMed Central
    26. 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
    27. 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.
      View in: PubMed, PubMed Central
    28. 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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