Keck School Faculty

Norman Arnheim, PhD
Norman Arnheim, PhD
Professor The Ester Dornsife Chair In Biological Sciences
Broad CIRM Center
RRI 319C University Park Campus Los Angeles

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 06; 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 01; 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 09; 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 01; 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 01; 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 typingCurr Protoc Hum Genet. 2002 May; Chapter 1:Unit 1. 6. . View in PubMed

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