Faculty

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Norman Arnheim, PhD
Professor The Ester Dornsife Chair in Biological Sciences
Broad CIRM Center
RRI 319C University Park Campus Los Angeles
+1 213 740 7675

Publications

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. View in: PubMed

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. View in: PubMed

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. View in: PubMed

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 6; 92(6):917-26. View in: PubMed

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. View in: PubMed

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. View in: PubMed

Arnheim N, Calabrese P. Understanding what determines the frequency and pattern of human germline mutations. Nat Rev Genet. 2009 Jul; 10(7):478-88. View in: PubMed

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. View in: PubMed

Qin J, Subramanian J, Arnheim N. Detection of meiotic DNA breaks in mouse testicular germ cells. Methods Mol Biol. 2009; 557:165-81. View in: PubMed

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. View in: PubMed

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. View in: PubMed

Shelbourne PF, Keller-McGandy C, Bi WL, Yoon SR, Dubeau L, Veitch NJ, Vonsattel JP, Wexler NS. 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. View in: PubMed

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. View in: PubMed

Arnheim N, Calabrese P, Tiemann-Boege I. Mammalian meiotic recombination hot spots. Annu Rev Genet. 2007; 41:369-99. View in: PubMed

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. View in: PubMed

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. View in: PubMed

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. View in: PubMed

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 1; 65(19):8662-70. View in: PubMed

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 9; 101(10):3498-503. View in: PubMed

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. View in: PubMed

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. View in: PubMed

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. View in: PubMed

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. View in: PubMed

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 1; 12(9):1021-8. View in: PubMed

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 1; 31(3):974-80. View in: PubMed

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. View in: PubMed

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. View in: PubMed

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. View in: PubMed

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