Keck School Faculty

Norman Arnheim
Norman Arnheim
Distinguished Professor of Biological Sciences and Biochemistry and Molecular Biology, and Ester Dornsife Chair in Biological Sciences
Broad CIRM Center
RRI 319C University Park Campus Los Angeles

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

Germline Stem Cell Competition, Mutation Hot Spots, Genetic Disorders, and Older Fathers Annu Rev Genomics Hum Genet. 2016 08 31; 17:219-43. . 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

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

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

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

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

Evidence for the lack of mismatch-repair directed antirecombination during mouse meiosis J Hered. 2002 May-Jun; 93(3):201-5. . View in PubMed

Hydroxylated quantum dots as luminescent probes for in situ hybridization J Am Chem Soc. 2001 May 02; 123(17):4103-4. . View in PubMed

Unequal exchange at the Charcot-Marie-Tooth disease type 1A recombination hot-spot is not elevated above the genome average rate Hum Mol Genet. 2000 Jul 22; 9(12):1881-9. . View in PubMed

French Machado-Joseph disease patients do not exhibit gametic segregation distortion: a sperm typing analysis Hum Mol Genet. 1999 Sep; 8(9):1779-84. . View in PubMed

Polymorphisms in the human DNA repair gene XPF Mutat Res. 1999 Aug; 406(2-4):115-20. . View in PubMed

Different mutator phenotypes in Mlh1- versus Pms2-deficient mice Proc Natl Acad Sci U S A. 1999 Jun 08; 96(12):6850-5. . View in PubMed

Analysis of germline mutation spectra at the Huntington's disease locus supports a mitotic mutation mechanism Hum Mol Genet. 1999 Feb; 8(2):173-83. . View in PubMed

Patchy fur, a mouse coat mutation associated with X-Y nondisjunction, maps to the pseudoautosomal boundary region Genomics. 1998 Dec 15; 54(3):556-9. . View in PubMed

The mutation properties of spinal and bulbar muscular atrophy disease alleles Neurogenetics. 1998 Aug; 1(4):249-52. . View in PubMed

Gene hunting without sequencing genomic clones: finding exon boundaries in cDNAs Genomics. 1998 Jan 15; 47(2):171-9. . View in PubMed

DNA mismatch repair in mammals: role in disease and meiosis Curr Opin Genet Dev. 1997 Jun; 7(3):364-70. . View in PubMed

cDNA cloning and characterization of Npap60: a novel rat nuclear pore-associated protein with an unusual subcellular localization during male germ cell differentiation Genomics. 1997 Mar 15; 40(3):444-53. . View in PubMed

Individual variation in recombination among human males Am J Hum Genet. 1996 Dec; 59(6):1186-92. . View in PubMed

Mitochondrial DNA deletions are rare in the free radical-rich retinal environment Neurobiol Aging. 1996 Nov-Dec; 17(6):827-31. . View in PubMed

Analysis of meiotic segregation, using single-sperm typing: meiotic drive at the myotonic dystrophy locus Am J Hum Genet. 1996 Oct; 59(4):896-904. . View in PubMed

Stability of intrastrand hairpin structures formed by the CAG/CTG class of DNA triplet repeats associated with neurological diseases Nucleic Acids Res. 1996 Jun 01; 24(11):1992-8. . View in PubMed

Detection and quantification of mitochondrial DNA deletions Methods Enzymol. 1996; 264:421-31. . View in PubMed

Whole genome amplification of single cells: mathematical analysis of PEP and tagged PCR Nucleic Acids Res. 1995 Aug 11; 23(15):3034-40. . View in PubMed

CAG repeat length variation in sperm from a patient with Kennedy's disease Hum Mol Genet. 1995 Feb; 4(2):303-5. . View in PubMed

A novel repeat structure at the myotonic dystrophy locus in a 37 repeat allele with unexpectedly high stability Hum Mol Genet. 1995 Jan; 4(1):135-6. . View in PubMed

Analysis of mutational changes at the HLA locus in single human sperm Hum Mutat. 1995; 6(4):303-10. . View in PubMed

Cloning and identification of the pig ribosomal gene promoter Gene. 1994 Dec 15; 150(2):375-9. . View in PubMed

Multipoint linkage map of the human pseudoautosomal region, based on single-sperm typing: do double crossovers occur during male meiosis? Am J Hum Genet. 1994 Sep; 55(3):423-30.. View in PubMed

Studying human mutations by sperm typing: instability of CAG trinucleotide repeats in the human androgen receptor gene Nat Genet. 1994 Aug; 7(4):531-5. . View in PubMed

High resolution localization of recombination hot spots using sperm typing Nat Genet. 1994 Jul; 7(3):420-4. . View in PubMed

Genetic recombination analysis using sperm typing Genet Eng (N Y). 1994; 16:157-65. . View in PubMed

Four PCR-based polymorphisms in the pseudoautosomal region of the human X and Y chromosomes Hum Mol Genet. 1993 Nov; 2(11):1978. . View in PubMed

The mouse Eb meiotic recombination hotspot contains a tissue-specific transcriptional enhancer Immunogenetics. 1993; 37(5):331-6. . View in PubMed

Mosaicism for a specific somatic mitochondrial DNA mutation in adult human brain Nat Genet. 1992 Dec; 2(4):318-23. . View in PubMed

A new source of polymorphic DNA markers for sperm typing: analysis of microsatellite repeats in single cells Am J Hum Genet. 1992 Nov; 51(5):985-91. . View in PubMed

Extension of base mispairs by Taq DNA polymerase: implications for single nucleotide discrimination in PCR Nucleic Acids Res. 1992 Sep 11; 20(17):4567-73. . View in PubMed

Deleterious mitochondrial DNA mutations accumulate in aging human tissues Mutat Res. 1992 Sep; 275(3-6):157-67. . View in PubMed

Using the polymerase chain reaction to estimate mutation frequencies and rates in human cells Mutat Res. 1992 Sep; 277(3):239-49. . View in PubMed

A pattern of accumulation of a somatic deletion of mitochondrial DNA in aging human tissues Proc Natl Acad Sci U S A. 1992 Aug 15; 89(16):7370-4. . View in PubMed

Whole genome amplification from a single cell: implications for genetic analysis Proc Natl Acad Sci U S A. 1992 Jul 01; 89(13):5847-51. . View in PubMed

Gene-centromere linkage mapping by PCR analysis of individual oocytes Genomics. 1992 Jul; 13(3):713-7. . View in PubMed

Sperm typing allows accurate measurement of the recombination fraction between D3S2 and D3S3 on the short arm of human chromosome 3 Genomics. 1992 Apr; 12(4):683-7. . View in PubMed

Base mispair extension kineticsBinding of avian myeloblastosis reverse transcriptase to matched and mismatched base pair termini. J Biol Chem. 1992 Feb 05; 267(4):2633-9. . View in PubMed

A multiple-tubes approach for accurate genotyping of very small DNA samples by using PCR: statistical considerations Am J Hum Genet. 1992 Feb; 50(2):347-59. . View in PubMed

Polymerase chain reaction strategy Annu Rev Biochem. 1992; 61:131-56. . View in PubMed

Using PCR in preimplantation genetic disease diagnosis Hum Reprod. 1991 Jul; 6(6):836-49. . View in PubMed

Eliminating primers from completed polymerase chain reactions with exonuclease VII Nucleic Acids Res. 1991 Jun 11; 19(11):3139-41. . View in PubMed

DNase I-hypersensitive sites and transcription factor-binding motifs within the mouse E beta meiotic recombination hot spot Mol Cell Biol. 1991 Apr; 11(4):1813-9. . View in PubMed

Genetic mapping by single sperm typing Anim Genet. 1991; 22(2):105-15. . View in PubMed

Detection of a specific mitochondrial DNA deletion in tissues of older humans Nucleic Acids Res. 1990 Dec 11; 18(23):6927-33. . View in PubMed

PCR analysis of DNA sequences in single cells: single sperm gene mapping and genetic disease diagnosis Genomics. 1990 Nov; 8(3):415-9. . View in PubMed

Direct electrophoretic detection of the allelic state of single DNA molecules in human sperm by using the polymerase chain reaction Proc Natl Acad Sci U S A. 1990 Jun; 87(12):4580-4. . View in PubMed

The possible role of Z DNA in chromosomal translocations Cancer Cells. 1990 Apr; 2(4):121-2. . View in PubMed

Detection of c-K-ras mutations in fine needle aspirates from human pancreatic adenocarcinomas Cancer Res. 1990 Feb 15; 50(4):1279-83. . View in PubMed

The polymerase chain reaction Genet Eng (N Y). 1990; 12:115-37. . View in PubMed

Analysis of DNA sequences in individual gametes: application to human genetic mapping Prog Clin Biol Res. 1990; 340C:207-11. . View in PubMed

Single-sperm typing: determination of genetic distance between the G gamma-globin and parathyroid hormone loci by using the polymerase chain reaction and allele-specific oligomers Proc Natl Acad Sci U S A. 1989 Dec; 86(23):9389-93. . View in PubMed

Human immunodeficiency viral DNA is readily found in lymph node biopsies from seropositive individualsAnalysis of fixed tissue using the polymerase chain reaction. Am J Pathol. 1989 Oct; 135(4):697-702. . View in PubMed

A simple method for site-directed mutagenesis using the polymerase chain reaction Nucleic Acids Res. 1989 Aug 25; 17(16):6545-51. . View in PubMed

Detection of human papillomavirus in formalin-fixed, invasive squamous carcinomas using the polymerase chain reaction Am J Surg Pathol. 1989 Mar; 13(3):221-4. . View in PubMed

Detection of human papillomavirus DNA in fine-needle aspirations of metastatic squamous-cell carcinoma of the uterine cervix using the polymerase chain reaction Diagn Cytopathol. 1989; 5(1):40-3. . View in PubMed

Detection of cytomegalovirus DNA in peripheral blood of patients infected with human immunodeficiency virus J Infect Dis. 1988 Dec; 158(6):1185-92. . View in PubMed

Detection of human papillomavirus in normal and dysplastic tissue by the polymerase chain reaction Lab Invest. 1988 Oct; 59(4):555-9. . View in PubMed

Amplification and analysis of DNA sequences in single human sperm and diploid cells Nature. 1988 Sep 29; 335(6189):414-7. . View in PubMed

Analysis of DNA sequences in forty-year-old paraffin-embedded thin-tissue sections: a bridge between molecular biology and classical histology Cancer Res. 1988 Aug 15; 48(16):4564-6. . View in PubMed

Detection of human papilloma virus in paraffin-embedded tissue using the polymerase chain reaction J Exp Med. 1988 Jan 01; 167(1):225-30. . View in PubMed

New technologies for studying human genetic variation Basic Life Sci. 1988; 43:37-44. . View in PubMed

Molecular size of hagfish muscle lactate dehydrogenase Science. 1967 Aug 04; 157(3788):568-9. . View in PubMed

The regional effects of two mutants in Drosophila analyzed by means of mosaics Genetics. 1967 Jun; 56(2):253-63. . View in PubMed

Age dependence of the locations of x-ray induced somatic crossing over in Drosophila Genetics. 1966 Jul; 54(1):267-76. . View in PubMed

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