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

. View in: PubMed

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

Estimating Exceptionally Rare Germline and Somatic Mutation Frequencies via Next Generation Sequencing. PLoS One. 2016; 11(6):e0158340. View in: PubMed

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

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

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

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

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

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

Detection of meiotic DNA breaks in mouse testicular germ cells. Methods Mol Biol. 2009; 557:165-81. View in: PubMed

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

The molecular anatomy of spontaneous germline mutations in human testes. PLoS Biol. 2007 Sep; 5(9):e224. View in: PubMed

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

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

Mammalian meiotic recombination hot spots. Annu Rev Genet. 2007; 41:369-99. View in: PubMed

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

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

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

Genetic instability induced by overexpression of DNA ligase I in budding yeast. Genetics. 2005 Oct; 171(2):427-41. View in: PubMed

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

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

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

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

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

Candidate DNA replication initiation regions at human trinucleotide repeat disease loci. Hum Mol Genet. 2003 May 1; 12(9):1021-8. View in: PubMed

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

The mutation process of microsatellites during the polymerase chain reaction. J Comput Biol. 2003; 10(2):143-55. View in: PubMed

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

Single-sperm typing. Curr Protoc Hum Genet. 2002 May; Chapter 1:Unit 1. 6. View in: PubMed

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