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CURRICULUM VITAE

NORMAN ARNHEIM

EDUCATION B.A. Biology, University of Rochester, 1960 M.S. Biology, University of Rochester, 1962 Ph.D. Genetics, University of California at Berkeley, 1965; Thesis Advisor, Dr. Curt Stern

POSITIONS 2018-Summer, Interim Co-Head, Molecular and Computational Biology Section, Bisc. 2006- Sabbatical Leave-Spring semester, California Institute of Technology 2001- Distinguished Professor of Biological Sciences, Molecular Biology and Biochemistry (USC) 1998- Ester Dornsife Chair in Biological Sciences, (USC) 1995-1997 Kawamoto Professor of Biological Sciences, USC 1995- Professor of Biochemistry and Molecular Biology, USC School of Medicine 1990-1998, Head, Molecular Biology Section, USC 1985- Professor of Molecular Biology, USC 1985-1988, Chair, Department of Biological Sciences, USC 1984-1985, Head, Department of Human Genetics, Cetus Corporation, Emeryville, CA 1983-1985, Senior Scientist, Cetus Corporation, Emeryville, CA 1984-1985, Professor, Department of Biochemistry, SUNY, Stony Brook 1975-1984, Associate Professor, Department of Biochemistry, SUNY, Stony Brook 1975-1976, Sabbatical Leave, University of Edinburgh, with Ed Southern. 1968-1974, Assistant Professor, Department of Biochemistry, SUNY, Stony Brook 1965-1968, Postdoctoral Fellow, Biochemistry and Genetics, UC Berkeley, with Allan Wilson.

GRANT SUPPORT NIH (GM36745-32) 2014-2018, Genetic studies using sperm typing. PATENTS Polymerase Chain Reaction. No. 4,683,195; Process for Amplifying, Detecting and/or Cloning Nucleic Acid Sequences. With H. A. Erlich, K. B. Mullis ,G. T. Horn, R. K. Saiki, S. J. Scharf.

PROFESSIONAL ACTIVITIES Member, National Research Council/National Academy of Sciences Committee on Human Genome Diversity, 1996-1997 Member, Scientific Board, Hereditary Disease Foundation, 1995-1999 Member, Mammalian Genetics Study Section, NIH, 1988-1992. Member, Subcommittee on the Human Genome, HERAC 1992 Faculty, The Short Course in Medical and Experimental Mammalian Genetics at the Jackson Laboratories, 1991-1994, 1996-1999 Scientific Advisory Comm., W.M. Keck Distinguished Young Scholars Award (2002-2014) Associate Editor for Genetics (1999-2010) and Human Genetics Editorial Board (2001-2003)

HONORS

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Elected Fellow of the American Association for the Advancement of Science (AAAS), 2012 USC Carl M. Franklin Lecturer on Science and Society, 2012 USC Dornsife College Raubenheimer Faculty Award, 2012 NIH R37 MERIT Award, 1992-2002, Genetic studies using sperm typing.

SOCIETY MEMBERSHIPS: AAAS

PUBLICATIONS (chronological order) 1)Tokunaga, C. and Arnheim, N., Jr (1966) Age Dependence of the Location of X-ray Induced Somatic Crossing Over in Drosophila. Genetics 54, 267-276.

2) Arnheim, N., Jr. (1967) The Regional Effects of Two Mutants in Drosophila Analyzed by Means of Mosaics. Genetics 56, 253-263.

3) Arnheim, N., Jr., Cocks, G. and Wilson, A. C. (1967) The Molecular Size of Hagfish Muscle Lactate Dehydrogenase. Science 157, 568-569.

4) Arnheim, N., Jr. and Wilson, A. C. (1967) Quantitative Immunological Comparison of Bird Lysozymes. J. Biol. Chem. 242, 3951-3956.

5) Arnheim, N. (1968) Comparative Biochemistry and Immunochemistry of Bird Lysozymes. Fed. Proc. 27, 275.

6) Wilson, A. C. and Arnheim, N. (1968) A Small Molecule in Hagfish Tissues Possibly Related to the Cardiac Agent, Eptatretin. Comp. Biochem. Physiol. 25, 359-362.

7) Arnheim, N., Praeger, E. and Wilson, A.C. (1969) Immunological Prediction of Sequence Differences Among Proteins. J. Biol. Chem. 244, 2085-2094.

8) Arnheim, N.and Taylor, C. (1969) Non-Darwinian Evolution, Consequences for Neutral Allelic Variation. Nature 223, 900-903.

9) Arnheim, N. and Steller, R. (1970) Multiple Genes for Lysozyme in Birds. Arch. Biochem. Biophys. 141, 656-661.

10) Arnheim, N., Sobel, J. and Canfield, R. (1971) Immunochemical Resemblance between Human Leukemia and Hen Egg White Lysozyme and their Reduced Carboxymthyl Derivatives. J. Mol.Biol. 61, 237-250.

11) Praeger, E., Arnheim, N., Mross, G. and Wilson, A. C (1972) Amino Acid Sequence Studies on Bobwhite Quail Egg White Lysozyme. J. Biol. Chem. 247, 2905.

12) Arnheim, N., Inouye, M., Law, L. and Luadin, A. (1973) Catalytic Studies on the Enzymatic Specificity of Goose Egg White Lysozyme. J. Biol. Chem. 248,233-236.

13) Inouye, M., Arnheim, N. and Sternglanz, R. (1973) Bacteriophage T7 Lysozyme is an N- Acetylmuramyl-L-Alanine Amidase. J. Biol. Chem. 248, 7247-7252.

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14) Arnheim, N. (1973) Evolution of Proteins. In, The Antigens. Volume I, (M. Sela, ed). Academic Press. pp. 377-416.

15) Arnheim, N., Hindenburg, A., Begg, G. S. and Morgan, F. (1973) Multiple Genes for Lysozyme in Birds: Studies on Black Swan Egg White Lysozymes. J. Biol. Chem. 248, 8036-8042.

16) Arnheim, N. (1974) Multiple Genes for Lysozyme. Lysozyme, (E.F. Osserman, R.E.Canfield and S. Beychok, Eds). New York, Academic Press. pp. 153-161.

17) Morgan, R. and Arnheim, N. (1974) Preliminary Biochemical Studies of the Lysozymes of the Black Swam Cygus atratus .Lysozyme, (E.F. Osserman, R.F. Canfield and S. Beychok, eds). New York, Academic Press. pp. 81-88.

18) Hindenburg, A., Spitznagel, J. and Arnheim, N. (1974) Isozymes of Lysozyme in Leucocytes and Egg White: Evidence for the Species Specific Control of Egg White Lysozyme Synthesis. Proc. Natl. Acad. Sci. USA 71, 1653-1657.

19) Arnheim, N., Millett, F. and Raftery, M. (1974) Nuclear Magnetic Resonance and U. V. Difference Spectrum Studies of the Binding Properties of Turkey Egg White Lysozyme: Consequences of the Replacement of Asp 101 by Glycine. Arch. Biochem. Biophys. 165. 281-287.

20) Praeger, E. M., Wilson, A. C. and Arnheim, N. (1974) Widespread Distribution of Lysozyme g in Egg White of Birds. J. Biol. Chem. 249, 7295-7297.

21) Nolan, R. A., Brush, A. H., Arnheim, N., Wilson, A. C. (1975) Immunological Comparison of Diverse Proteins from Gallinaceous Birds. Condor 77, 154-159.

22) Arnheim, N. (1975) The Evolution of Regulatory Mechanisms: Studies on the Multiple Genes for Lysozyme. Proceedings of the Third International Conference on Isozymes.IV: Genetics and Evolution, Academic Press. pp. 623-632.

23) Arnheim, N. and MacIntyre, R. (1976) The Preparation of Specific Antisera to Drosophila Acid Phosphatase without Rigorous Protein Purification. Biochemical Genetics, 14, 237-243.

24) Arnheim, N. and Southern, E. M. (1977) Heterogenetity of Ribosomal Genes in Mice and Men. Cell 11, 363-370.

25) Strobel, E., Pelling, C. and Arnheim, N. (1978) Incomplete Dosage Compensation in an Evolving Drosphila Sex Chromosome. Proc. Natl. Acad. Sci. 75, 931-935.

26) Krystal, M. and Arnheim, N. (1978) Length Heterogeneity in a Region of the Human Ribosomal Gene Spacer is Not Accompanied by Extensive Population Polymorphism. J. Mol. Biol. 126, 91-104.

27) Young, J. P. W., Koehn, R. K. and Arnheim, N. (1979) Biochemical Charactrization of "LAP", A Polymorphic Aminopeptidase from the Blue Mussel, Mytilus edulis. Biochemical Genetics 17, 305-323.

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28) Arnheim, N. (1979) Characterization of Mouse Ribosomal Gene Fragments Purified by Molecular Cloning. Gene 7, 83-90.

29) Arnheim, N. and Kuehn, M. (1979) The Genetic Behavior of a Cloned Mouse rDNA Segment Mimics Mouse Ribosomal Gene Evolution. J. Mol. Biol. 134, 743-765.

30) Castora, F. J., Arnheim, N. and Simpson, M. V. (1980) Nucleotide Sequencing Studies on Cloned Fragments of the A and B Polymorphic Forms of Rat Mitochondria. Proc. Natl. Acad. Sci. 77, 6415-6419.

31) Arnheim, N., Krystal, M., Schmickel, R., Wilson, G., Ryder, O. and Zimmer, E. (1980) Molecular Evidence for Genetic Exchanges among Ribosomal Genes on Non-Homologous Chromsomes in Man and Apes. Proc. Natl. Acad. Sci. 77, 7323-7327.

32) Marcu, K., Penncavage, N., Banerji, J., Lang, R. and Arnheim, N. (1980) 5' Flanking Region of Immunoglobulin Heavy Chain Constant Region Genes Displays Length Heterogeneity in Germlines of Inbred Mouse Strains. Cell 22, 187-196.

33) Arnheim, N., Separack, P., Banerji, J., Lang, R. and Marcu, K. (1980) Mouse rDNA Non- Transcribed Spacer Sequences are Found Flanking the Immunoglobulin CH Genes and Elsewhere Throughout the Genome. Cell 22, 179-

185. 34) Heller, R. and Arnheim, N. (1980) Structure and Organization of the Highly Repeated and Interspersed EcoRI-BglII Mouse Gene Family. Nuc. Acids Res. 8, 5031-5042.

35) Marcu, K., Arnheim, N., Banerji, J., Penncavage, N., Separack, P., Lang, R., Miesfeld, R., Harris, L. and Greenberg, R. (1981) Studies on the Nature and Germ Line Stability of DNA Sequences Flanking the Mouse Immunoglobulin Heavy Chain Constant Region Genes. Cold Spring Harbor Symp. Quant. Biol. 45, 899-911.

36) Krystal, M., D'Eustachio, P., Ruddle, F. and Arnheim, N. (1981) Human Nucleolus Organizers on Non-Homologous Chromosomes Can Share the Same Ribosomal Gene Variants. Proc. Natl.Acad. Sci. 78, 5744-5748.

37) Miesfeld, R., Krystal, M. and Arnheim, N. (1981) A Member of a New Repeated Sequence Family which is Conserved throughout Eucaryotic Evolution is Found between the Human Beta and Delta Globin Genes. Nuc. Acids Res. 9, 5931-5947.

38) Arnheim, N., Treco, D., Taylor, B. and Eicher, E.M. (1982) Distribution of Ribosomal GeneLength Variants among Mouse Chromsomes. Proc. Natl. Acad. Sci. 79, 4677-4680.

39) Treco, D., Brownell, E. and Arnheim, N. (1982) The Ribosomal Gene Non-Transcribed Spacer.The Cell Nucleus Volume XII, (H. Busch, and L. Rothblum eds.). Academic Press, N.Y. pp 101-126.

40) Miesfeld, R. and Arnheim, N. (1982) Identification of the in vivo and in vitro Origin of Transcription in Human rDNA. Nuc. Acids Res. 10, 3933-3949.

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41) Arnheim, N. (1983) Concerted Evolution of Multigene Families. Evolution of Genes and Proteins, (R. K. Koehn and M. Nei, eds.). Sinauer, Sunderland. pp. 38-61.

42) Brownell, E., Krystal, M. and Arnheim, N. (1983) Origin and Evolution of Human and African Ape rDNA Pseudogenes. Molecular Biology and Evolution 1, 29-37.

43) Kuehn, M. and Arnheim, N. (1983) Nucleotide Sequence of the Genetically Labile Repeated Elements 5' to the Origin of Mouse rRNA Transcription. Nuc. Acids Res. 11, 211-224.

44) Miesfeld, R. and Arnheim, N. (1984) Species-Specific rDNA Transcription is Due to Promotor- Specific Binding Factors. Molecular and Cellular Biology 4, 221-227.

45) Miesfeld, R., Sollner-Webb, B., Croce, C. and Arnheim, N. (1984) The Absence of a Human- Specific rDNA Transcription Factor Leads to Nucleolar Dominance in Mouse-Human Hybrid Cells. Molecular and Cellular Biology 4, 1306-1312.

46) Feramisco, J., Clark, R., Wong, G., Arnheim, N., Milley, R. and McCormick, F. (1985) Microinjection of Antibodies Specific for the Ras Oncogene Protein into Ras Transformed Cells Causes a Transient Reversion of the Transformed Phenotype. Nature 314, 639-642.

47) Saiki, R., Arnheim, N. and Erlich, H. (1984) Detection of Polymorphic Restriction Sites by Endonuclease Cleavage of Synthetic Oligonucleotides: Application to Sickle Cell Anemia. Workshop on the Status of Prenatal Diagnosis of Sickle Cell Disease and Other Hemoglobinopathies Genetic Disease Branch, California Department of Health.

48) Saiki, R. K., Arnheim, N. and Erlich, H. (1985) A Novel method for the Detection of Polymorphic Restriction Sites by Cleavage of Oligonucleotide Probes: Application to Sickle Cell Anemia. Biotechnology 3, 1008-1012.

49) Treco, D., Thomas, B. and Arnheim, N. (1985) Analysis of a Recombination Hot-Spot in the Human Beta-Globin Gene Cluster: Meiotic Recombination of Human DNA Fragments in S. cerevisiae. Mol. Cell. Biol. 5,2029-2038.

50) Arnheim, N., Strange, C. and Erlich, H. (1985) A Novel Approach Using Pooled DNA Samples to Detect Linkage Disequilibrium of Polymorphic Restriction Fragments and Human Diseases: Studies of the HLA Class II Loci. Proc. Nat. Acad. Sci. 82, 6970-6974.

51) Clark, R., Wong, G., Arnheim, N., Nitecki, D. and McCormick, F. (1985) Antibodies Specific for Amino Acid 12 of the Ras Oncogene Product Inhibit GTP Binding. Proc. Nat. Acad. Sci. 82,5280-5284.

52) Saiki, R.,Scharf, S., Faloona, F., Mullis, K., Horn, G., Erlich, H., and Arnheim, N., (1985) Enzymatic Amplification of Beta-Globin Genomic Sequences and Restriction Site Analysis for Diagnosis of Sickle Cell Anemia. Science 230 1350-1354.

53) Arnheim, N. (1986) The Evolution of Transcriptional Control Signals: Coevolution of Ribosomal Gene Promoter Sequences and Transcription Factors. Evolutionary

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Processes and Theory, (S. Karlin and E. Nevo eds.). Academic Press, N.Y. pp.37-51. 54) Treco, D. and Arnheim, N. (1986) The Evolutionarily Conserved Repetitive Sequence d(TG.AC)n Promotes Reciprocal Exchange and Generates Unusual

Recombinant Tetrads During Yeast Meiosis. Mol. Cell Biol. 6(11):3934-3947. 55) Wong, G., Arnheim, N., Clark, R., McCabe, P., Innis, M., Aldwin, L., Nitecki, D., and McCormick, F., (1986) Detection of Activated p21, the Product of Ras Oncogenes, Using Antibodies with Specificity for Amino Acid 12. Cancer Research. 46:6029-6033.

56) Wrischnik, L. A., Higuchi, R. G., Stoneking, M. Erlich, H. A., Arnheim, N. and Wilson, A. C. (1987) Length Mutations in Human Mitochondrial DNA: Direct Sequencing of Enzymatically Amplified DNA. Nucleic Acids Research. 15(2):529-542.

57) Embury, S. H., Scharf, S. J., B.A., Saiki, R. K., Gholson, M. A. Golbus, M. Arnheim, N. Erlich, H. A. (1987) Enzymatic DNA Amplification-Oligonucleotide Restriction Analysis for prenatal Diagnosis in Sickle Cell Anemia. New England Journal of Medicine. 316(11):656-661.

58) Arnheim, N. and Erlich, H. (1987) Commercial Applications of Recombinant DNA Technology., Progress in Medical Genetics., Molecular Genetics in Medicine, New Series, Vol. 7. (B. Childs, N.A. Holtzman, H.H. Kazazian, Jr. and D.L. Valle, eds.). Elsevier, N.Y. pp. 195-219.

59) Arnheim, N. (1988) New Technologies For Studying Human Genetic Variation. Phenotypic Variation in Populations: Relevance to Risk Assessment. (Brookhaven National Laboratory (A.D. Woodhead, M.A. Bender and R.C. Leonard, eds.). Plenum Press, New York. pp. 37-44.

60) Shibata, D., Arnheim, N. and Martin, J. (1988) Detection of Human Papilloma Virus in Paraffin Embedded Tissue Using the Polymerase Chain Reaction. Journal of Experimental Medicine,167, 225-230.

61) Almoguera, C., Shibata, D., Forrester, K., Martin, J., Arnheim, N. and Perucho, M. (1988) Most human carcinomas of the exocrine pancreas contain mutant c-K-ras genes. Cell,53:549- 554.

62) Seperack, P., Slatkin, M. and Arnheim, N. (1988) Linkage Disequilibrium in Human Ribosomal Genes: Implications for Multigene Family Evolution. Genetics, 119:943-949.

63) Shibata, D., Martin W.J. and Arnheim, N. (1988) The Analysis of DNA Sequences in 40 Year Old Paraffin Embedded Thin-Tissue Sections: A Bridge Between Molecular Biology and Classical Histology. Cancer Research 48 4564-4566.

64) Li, H., Gyllensten, U., Cui, X., Saiki, R., Erlich, H. and Arnheim, N. (1988) Amplification and Analysis of DNA Sequences in Single Human Sperm and Diploid Cells. Nature335:414-417.

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65) Shibata, D., Martin, W.J. and Arnheim, N. (1988) Detection of Cytomegalovirus DNA in Peripheral Blood of Patients Infected with Human Immunodifficiency Virus. J. Infectious Diseases 158:1185-11.

66) Shibata, D., Fu, Y.S., Gupta, J.W., Shah, K.V., Arnheim, N. and Martin, W.J. (1988) The Detection of Human Papillomavirus in Normal and Dysplastic Tissue by the Polymerase Chain Reaction. Laboratory Investigation 59:555-559.

67) Shibata, D., Cosgrove, M., Arnheim, N., Martin, J., and Martin, S.E. (1989) Detection of Human Papillomavirus DNA in Fine Needle Aspirations of Metastatic Squamous Cell Carcinoma of the Uterine Cervix using the Polymerase Chain Reaction. Diagnostic Cytopathology 5:40-43.

68) Kiyabu, M., Shibata, D., Arnheim, N., Martin, W.J., Fitzgibbons, P.L. (1989) Detection of Human Papillomavirus in Formalin-Fixed, Invasive Squamous Carcinomas Using the Polymerase Chain Reaction. Am. Journal Surgical Pathology 13:221-224.

69) Boehnke, M., Arnheim, N., Li, H., Collins, F.S. (1989) Fine Structure Genetic Mapping of Human Chromosomes Using the Polymerase Chain Reaction on Single Sperm: Experimental Design Considerations. American Journal of Human Genetics. 45:21-32.

70) Arnheim, N. (1989) A New Approach to Studying Genetic Recombination and Constructing Genetic Maps: PCR Analysis of DNA Sequences in Individual Gametes. PCR Technology: Principles and Applications for DNA Amplification. (H. Erlich, ed.) Stockton Press, New York. pp. 119-135.

71) White,T., Arnheim, N. and Erlich, H. (1989) The Polymerase Chain Reaction. Trends in Genetics. 5:179-189.

72) Perucho,M., Forrester,K., Almoguera,C., Kahn,S., Lama,C., Shibata,D., Arnheim,N. and Grizzle,W.E. (1989) Expression and Mutational Activation of the c-Ki-ras gene in human carcinomas. Cancer Cells 7/Molecular Diagnostics of Human Cancer. Cold Spring Harbor Press, N.Y.

73) Li, H., Boehnke, M., Collins, F.C. and Arnheim, N. (1989) Genetic Mapping Using the Polymerase Chain Reaction on Single Sperm. Polymerase Chain Reaction, Current Communications in Molecular Biology. (H. Erlich, R.Gibbs and H. Kazazian eds.). Cold Spring Harbor Laboratory Press, Cold Spring Harbor. pp 195-197

74) Shibata, D., Brynes, R.K., Nathwani, B.N., Kwok, S., Sninsky, J., and Arnheim, N. (1989) Human Immunodeficiency Viral DNA is Readily Found in Lymph Node Biopsies from Seropositive individuals: Analysis of Fixed Tissues Using the Polymerase Chain Reaction. American J. Surg. Pathology 135:697-702.

75) Hemsley, A., Arnheim, N., Toney, M.D., Cortopassi, G., and Galas, D.J. (1989) A Simple Method for Site Directed Mutagenesis Using the Polymerase Chain Reaction. Nucleic Acids Research 17:6545-6551.

76) Cui, X., Li, H., Goradia, T.M., Lange, K., Kazazian, H.H., Galas, D.J. and Arnheim, N. (1989) Single Sperm Typing: Determination of Genetic Distance Between the G-

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Gamma Globin and Parathyroid Hormone Loci. Proc. Natl. Acad. Sci. USA. 86: 9389-93.

77) Shibata, D., Almoguera, C., Forrester, K., Dunitz, J., Martin, S.E., Cosgrove, M., Perucho, M., Arnheim, N. (1990) Analysis of c-K-ras Mutations in Fine Needle Aspirates from Pancreatic Masses. Cancer Research 50:1279-1283

78) Arnheim, N., White, T. and Rainey, W. (1990) Application of the Polymerase Chain Reaction to Organismal and Population Biology. Bioscience, 40: 174-182.

79) Arnheim, N. (1990) The Possible Role of Z DNA in Chromosomal Translocations. Cancer Cells 2:121-122.

80) Li, H., Cui, X., and Arnheim, N. (1990) Analysis of DNA Sequences in Individual Gametes: Application to Human Genetic Mapping.Mutation and the Environment Part C: Somatic and Heritable Mutation, Adduction and Epidemiology. Proceedings of the Fifth International Conference on Environmental Mutagens. (M. Mendelsohn and R. Albertini eds). Wiley-Liss, Inc., New York. pp. 207-211.

81) Arnheim, N. (1990) The Polymerase Chain Reaction in, Genetic Engineering, Principles and Methods (J.K. Setlow ed.), Volume 12 , Plenum Press. pp. 115- 138.

82) Li, H., Cui, X. and Arnheim, N. (1990) Direct Electrophoretic Detection of the Allelic State of Single DNA Molecules in Human Sperm Using PCR. Proc. Natl. Acad. Sci. 87:4580-4584.

83) Arnheim, N. (1990) Analysis of DNA Sequences in Individual Human Sperm Using PCR. Banbury Report 34: Biology of MammalianGerm Cell Mutagenesis . Cold Spring Harbor Laboratory Press, New York. pp. 363-376.

84) Arnheim, N. and Levenson, C. (1990) The Polymerase Chain Reaction. Chemical & Engineering News. 68:36-47.

85) Arnheim, N., Li, H. and Cui, X. (1990) PCR Analysis of DNA Sequences in Single Cells: Single Sperm Mapping and Genetic Disease Diagnosis. Genomics 8:415- 419.

86) Cortopassi, G. and Arnheim, N. (1990) Detection of a Specific Mitochondrial DNA Deletion in Tissues of Older Humans. Nucleic Acids Research 18:6927-6933.

87) Shenkar, R., Shen, M. and Arnheim, N. (1991) DNAse I Hypersensitive Sites and TranscriptionFactor Binding Motifs within the Mouse EB Meiotic Recombination Hot Spot. Molecular and Cellular Biology 11:1813-1819.

88) Arnheim, N., Li, H. and Cui, X. (1991) Genetic Mapping by Single Sperm Typing. Animal Genetics 22:105-115.

89) Li, H., Cui, X. and Arnheim, N. (1991) Analysis of DNA Sequence Variation in Single Cells. Methods-A Companion to Methods in Enzymology (N. Arnheim ed.) Academic Press, Volume 2:49-59

90) Goradia, T.M., Stanton, V.P., Cui, X., Aburatani, H., Li, H., Lange, K., Housman, D.E., and Arnheim, N. (1991) Ordering Three DNA Polymorphisms on Human

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Chromosome 3 by Sperm Typing. Genomics 10:748-755. 91) Li, H., Cui, X. and Arnheim, N. (1991) Eliminating Primers from Completed Polymerase Chain Reactions with Exonuclease VII. Nucleic Acids Research 19:3139-3141.

92) Navidi, W. and Arnheim, N. (1991) Using PCR in Preimplantation Genetic Disease Diagnosis. Human Reproduction 6:836-849.

93) Arnheim, N., Li, H., Cui, X. and Navidi, W. (1991) Single Sperm PCR Analysis: Implications for Preimplantation Genetic Disease Diagnosis. Preimplantation Genetics, (Y. Verlinsky and A. Kuliev eds.) Plenum Press, New York. pp. 121-130.

94) Creighton, S., Huang, M-M., Cai, H., Arnheim, N. and Goodman, M.F. (1991) Base Mispair Extension Kinetics: Binding of Avian Myeloblastosis Reverse Transcriptase to Matched and Mismatched Base Pair Termini. J. Biological Chemistry, 267:2633-2639.

95) Navidi, W., Arnheim, N. and Waterman, M. (1992) A Multiple Tubes Approach for Accurate Genotyping of Very Small DNA Samples using PCR: Statistical Considerations. Am. J. Human Genetics,50:347-359.

96) Hubert, R., Stanton, Jr., V.P., Aburatani, H., Warren, J., Li, H., Housman, D.D. and Arnheim, N. (1992) Sperm Typing Allows Accurate Measurement of the Recombination Fraction between D3S2 and D3S3 on the Short Arm of Human Chromosome 3. Genomics 12:683-687. 97) Arnheim, N. and Erlich, H. (1992) PCR Strategy. Ann. Rev. Biochemistry 61: 131-156. 98) Hubert, R., Weber, J.L., Schmitt, K., Zhang, L. and Arnheim, N. (1992) A New Source of Polymorphic DNA Markers for Sperm Typing: Analysis of Microsatellite Repeats in Single Cells. Am. J. Hum. Genet. 51:985-991

99) Lewin, H.A., Schmitt, K., Hubert, R., van Eijk, M.J.T., and Arnheim, N. (1992) Close Linkage Between Bovine Prolactin and BoLA-DRB3 Genes: Genetic Mapping in Cattle by Single Sperm Typing. Genomics 13:44-48.

100) Arnheim, N. (1992) Genetic Mapping and Preimplantation Diagnosis in Agriculturally Important Species using Single Cell PCR.Animal Biotechnology 3:55-65.

101) Cui, X., Gerwin, J., Navidi, W., Li, H., Kuehn, M. and Arnheim, N. (1992) Gene-Centromere Mapping by PCR Analysis of Individual Oocytes. Genomics, 13:713-717.

102) Zhang, L., Cui, X., Schmitt, K., Hubert, R., Navidi, W. and Arnheim, N. (1992) Whole Genome Amplification from a Single Cell: Implications for Genetic Analysis. Proc. Natl. Acad. Sci. 89:5847-5851.

103) Cortopassi, G.A., Shibata, D., Soong, N-W and Arnheim, N. (1992) A Pattern of Accumulation of a Somatic Deletion of Mitochondrial DNA in Aging Human Tissues. Proc. Natl. Acad. Sci. 89:7370-7374.

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104) Huang, M-M., Arnheim, N. and Goodman, M.F. (1992) Extension of base mispairs by Taq DNA polymerase:implications for single nucleotide discrimination in PCR. Nucleic Acids Research 20:4567-4573.

105) Cortopassi, G. A. and Arnheim, N. (1992) Using the Polymerase Chain Reaction to Estimate Mutation Frequencies and Rates in Human Cells. Mutation Research 277:239-249

106) Arnheim, N. and Cortopassi, G.A. (1992) Deleterious Mitochondrial DNA Mutations Accumulate in Aging Human Tissues. In, Molecular Basis of Aging: Subcellular degeneration and oxidative damage. (H. Joenje, ed.) Mutation Research, DNAging 275:157- 167.

107) Cortopassi, G. A., Pasinetti, G. and Arnheim, N. (1992) Mosaicism for the Levels of a Somatic Mutation of Mitochondrial DNA in Different Brain Regions and its Implications for Neurological Disease. Progress in Parkinson's Disease II. (W.J. Weiner and F. Hefti, Eds.), Futura Pub. Co. Inc., Mount Kisco, N.Y. pp. 107-116.

108) Soong, N-W., Hinton, D., Cortopassi, G.A. and Arnheim, N. (1992) The Adult Human Brain is Mosaic for a Specific Mitochondrial DNA Mutation. Nature Genetics 2:318-323.

109) Erlich, H.A. and Arnheim, N. (1992) Genetic Analysis Using the Polymerase Chain Reaction. Ann. Rev. Genetics 26:479-506.

110) Ling, X., Shjenkar, R.,R., Sakai, D. and Arnheim, N. (1992) The Mouse Eb Meiotic Recombination Hot Spot Contains a Tissue-Specific Transcriptional Enhancer. Immunogenetics 37:331-336.

111) Soong, N-W., Hinton, D.R., Cortopassi, G. and Arnheim, N. (1993) Mitochondrial DNA Mutations and Aging. Bull. Mol. Biol. Med. 18:41-55.

112) Schmitt, K., Vollrath, D., Foote, S., Fisher, E.M.C., Page, D.C. and Arnheim, N. (1993) Four PCR-Based Polymorphisms in the Pseudoautosomal Region of the Human X and Y Chromosomes. Human Molecular Genetics 2:1978

113) Cortopassi, G. and Arnheim, N. (1993) Accumulation of Mitochondrial DNA Mutations in Normal Aging Brain and Muscle. In, Mitochondrial DNA in Human Pathology (S. Dimauro and D. Wallace eds.) Raven Press, New York. pp. 125-136.

114) Schmitt, K. and Arnheim, N. (1994) Genetic Recombination Analysis using Sperm Typing. In,Genetic Engineering, Principles and Methods Volume 16 (J.K. Setlow ed.), Plenum Press,New York. pp. 157-165.

115) Hubert, R., MacDonald, M., Gusella, J. and Arnheim, N. (1994) A Sperm Typing Approach for High Resolution Localization of Meiotic Recombination Hot Spots: Analysis of the 4p16.3 Region Near the Huntington Disease Locus. Nature Genetics 7:420-424.

116) Zhang, L., Yu, Jian and Arnheim, N. (1994) Studying Human Mutations by Sperm Typing: The Germline Instability of CAG Trinucleotide Repeats in the Human

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Androgen Receptor Gene. Nature Genetics 7:531-535. 117) Lazzeroni, L.C., Arnheim, N., Schmitt, K. and Lange, K. (1994) Multipoint Mapping Calculations for Sperm Typing Data. Am. J. Hum. Genet. 55:431- 436.

118) Schmitt, K., Lazzeroni, L.C., Foote, S., Vollrath, D., Fisher,E.M.C., Goradia, T.M., Lange, K., Page, D. C., Arnheim, N. (1994) Multipoint Linkage Map of the Human Pseudoautosomal Region Based on Single Sperm Typing: Do Double Crossovers occur during Male Meiosis? Am. J. Hum. Genet. 55:421-430.

119) Ling, X. and Arnheim, N. (1994) Cloning and Identification of the Pig Ribosomal Gene Promoter. Gene 150:375-379.

120) Leeflang, E.P., Hubert, R., Schmitt, K., Zhang, L. and Arnheim, N. (1994) Single Sperm Typing, in, Current Protocols in Human Genetics Supplement 3, Unit 1.6, John Wiley and Sons, New York.

121) Soong, N-W. and Arnheim, N. (1994) Quantitative PCR: Analysis of Rare Mitochondrial DNA mutations in central nervous system tissues. PCR in Neuroscience (G. Sarkar, ed.) Methods in Neurosciences , Volume 26 Academic Press, New York. pp. 105-128.

122) Leeflang, E.P. and Arnheim, N. (1994) A novel repeat structure at the myotonic dystrophy locus in a 37 repeat allele with unexpectedly high stability. Human Molecular Genetics,4:135-136.

123) Navidi, W. and Arnheim, N. (1994) Analysis of Genetic Data from the Polymerase Chain Reaction. Statistical Science. 9:320-333.

124) Zhang, L., Fischbeck, K.H. and Arnheim, N. (1995) CAG repeat length variation in sperm from a patient with Kennedy's Disease, Human Molecular Genetics, 4:303-305.

125) Leeflang, E.P., Zhang, L., Tavare, S., Hubert, R., Srinidhi, J.,MacDonald, M.E., Myers, R.M., de Young, M., Wexler, N.S., Gusella, J.F. and Arnheim, N. (1995) Single sperm analysis of the trinucleotide repeats in the Huntington's disease gene. Human Molecular Genetics, 4:1519-1526.

126) Baker, S., Bronner, C.E., Zhang, L., Plug, A., Robatzek, M., Warren, G., Yu, J., Elliot, E.A., Ashley, T., Arnheim, N., Flavell, R.A. and Liskay, R.M. (1995) Mutation in a mouse DNA mismatch repair gene PMS2 is associated with abnormal chromosome pairing in male meiosis. Cell, 82:309-319.

127) Zangenberg, G., Huang, M-M., Arnheim, N. and Erlich, H. (1995) New HLA-DPB1 alleles generated by interallelic gene conversion detected by analysis of sperm. Nature Genetics,10:407-414.

128) Sun, F., Arnheim, N. and Waterman, M.S. (1995) Whole genome amplification of single cells: Mathematical analysis of PEP and Tagged PCR. Nucleic Acids Research, 23:3034-3040.

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129) Huang, M-M., Erlich, H.A., Goodman, M.F. and Arnheim, N. (1995) Analysis of mutational changes at the HLA locus in single human sperm. Human Mutation, 6:303-310.

130) Soong, N-W. and Arnheim, N. (1995) Detection and Quantification of mtDNA deletions. Methods in Enzymology. Mitochondrial Biogenesis and Genetics. (Attardi, G. and Chomyn, A. eds). Academic Press, Orlando. Volume 264,:421-431.

131) Petruska, J., Arnheim, N. and Goodman, M. (1996) Stability of Intra-strand Hairpin Structures Formed by the CAG/CTG Class of DNA Triplet Repeats Associated with Neurological Diseases. Nucleic Acids Research, 24:1992-1998.

132) Baker, S.M., Plug, A.W., Prolla, T.A., Bronner, C.E., Harris, A.C., Yao, X., Christie, D-M., Monell, C., Arnheim, N., Bradley, A., Ashley, T. and Liskay, R.M. (1996) Involvment of Mouse MLH1 in DNA Mismatch Repair and Meiotic Crossing Over. Nature Genetics. 13:336-342.

133) Shenkar, R., Navidi, W., Tavare, S., Dang, M.H., Chomyn, A., Attardi, G., Cortopassi, G. and Arnheim, N. (1996) The Mutation Rate of the Human Mitochondrial

DNA Deletion mtDNA4977. Am. J. Hum. Genet.59:896-904 . 134) Leeflang, E.P., McPeek, M.S. and Arnheim, N. (1996) Analysis of Meiotic Segregation using Single Sperm Typing: Meiotic Drive at the Myotonic Dystrophy Locus. Am. J. Hum. Genet.59:772-780.

135) Yu, J., Lazzeroni, L., Huang, M-M., Navidi, W., Erlich, H. and Arnheim, N. (1996) Individual Variation in Recombination among Human Males. Am. J. Hum. Genet. 59:1186-1192.

136) Soong, N.W., Dang, M.H., Hinton, D.R. and Arnheim, N. (1996) Mitochondrial DNA Deletions are rare in the Free Radical Rich Retinal Environment. Neurobiology of Aging. 17:827-831.

137) Arnheim, N. and Shibata, D. (1997) DNA Mismatch Repair in Mammals-Role in Disease and Meiosis. Current Opinions in Genetics and Development. 7:364-370.

138) Fan, F., Liu, C-P, Heyting, C., Offenberg, H.H., Trump, G. and Arnheim, N. (1997) A Novel Rat Nuclear Pore Associated Protein has Unusual Subcellular Localizations during Male Germ Cell Differentiation. Genomics. 40:444-453.

139) Sun, S., Benson, G., Arnheim, N. and Waterman, M. (1997) Pooling Strategies for Establishing Physical Genome Maps Using FISH. J. Computational Biology. 4:467-486.

140) Kunst, C.B., Leeflang, E.P., Iber, J.C., Arnheim, N., and Warren, S.T. (1997) The Effect of FMR1 CCG Repeat Interruptions on Mutation Frequency as Measured by Sperm Typing. Journal of Medical Genetics 34:627-631.

141) Xu, G., Sze, S-H., Liu, C-P., Pevzner, P.A., and Arnheim, N. (1998) Gene hunting without sequencing genomic clones: Finding exon boundaries in cDNAs. Genomics 47:171-179

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142) Prolla, T.A., Baker, S.M., Harris, A.C., Tsao, J-L., Yao, X., Bronner, E., Zheng, B., Gordon, M., Reneker, J., Arnheim, N., Shibata, D., Bradley, A. and Liskay, R.M. (1998) Tumor susceptability and spontaneous mutation in MLH1, PMS1 and PMS2 DNA mismatch repair defective mice. Nature Genetics 18:276-279.

143) Leeflang, E.P., Tavare, S., Marjoram, P., Grewal, R., Neal, C.O.S., and Arnheim, N. (1998) Human germline mutation analysis by single genome PCR:Application to dynamic mutations. In Genetic Instabilities and Hereditary Neurological Diseases (S.T. Warren and R.D.Wells eds.) Academic Press, New York, pp. 543-558.

144) Grewal, R.P, Leeflang, E.P., Zhang, L., and Arnheim, N. (1998) The mutational properties of spinal and bulbar muscular atrophy disease alleles. Neurogenetics 1:249-252.

145) Jackson, G.R., Salecker, I., Dong, X., Yao, X., Arnheim, N., Faber, P.W., Macdonald, M.E. and Zipursky, S.L. (1998) Polyglutamine-expanded human Huntingtin transgenes induce degeneration of Drosophila photoreceptor neurons. Neuron 21:633-642.

146) Korobova, O., Lane, P.W., Perry, J., Palmer, S., Ashworth, A., Davisson, M.T. and Arnheim, N. (1998) Patchy fur, a mouse coat mutation associated with X-Y nondisjunction, maps to the pseudoautosomal boundary region. Genomics 54:556-559.

147) Girardet A, Lien S, Leeflang EP, Beaufrere L, Tuffery S, Munier F, Arnheim N, Claustres M, Pellestor F (1999) Direct estimation of the recombination frequency between the RB1 gene and two closely linked microsatellites using sperm typing. Eur J Hum Genet 7:239-242.

148) Lien, S., Cockett, N.E., Klungland, H., Arnheim, N., Georges, M. and Gomez-Raya, L. (1999) High resolution gametic map of the sheep callipyge region:linkage heterogeneity among rams detected by sperm typing. Animal Genetics 30:42-46.

149) Leeflang, E.P., Tavare, S., Marjoram, P., Neal, C.O.S., Srinidhi, J., MacFarlane, H., MacDonald, M.E., Gusella, J.F., de Young, M., Wexler, N.S. and Arnheim, N. (1999) Analysis of germline mutation spectra at the Huntington disease locus supports a mitotic mutation mechanism. Human Molecular Genetics 8:173-183.

150) Moore, H., Greenwell, P.W., Liu, C-P, Arnheim, N. and Petes, T.D. (1999) Triplet repeats form secondary structures that escape DNA repair in yeast. Proc. Nat. Acad. Sci. 96:1504-1509.

151) Yao, X., Buermeyer, A.B., Narayanan, L., Tran, D., Baker, S.M.., Prolla, T.A., Glazer, P.M., Liskay, R.M. and Arnheim, N. (1999) Different mutator phenotypes in Mlh1- versus Pms2-deficient mice. Proc. Natl. Acad. Sci., 96:6850-6855.

152) Grewal, R.P., Cancel, G., Leeflang, E.P., Dürr, A., McPeek, M-S., Draghinas, D., Yao, X., Stevanin, G., Alnot, M-O., Brice, A. and Arnheim, N. (1999) French Machado-Joseph disease patients do not exhibit gametic

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segregation distortion: A Sperm Typing Analysis. Human Molecular Genetics, 8:1779-1784

153) Fan, F., Liu, C-P., Tavare, S. and Arnheim, N. (1999) Polymorphisms in the human DNA repair gene XPF. Mutation Research-Genomics, 406:115-120.

154) Girardet, A., McPeek, M-S, Leeflang,E.P.,Munier,F., Arnheim, N., Claustres, M. and Pellestor, F. (2000) Meiotic segregation analysis of Rb1 alleles in retinoblastoma pedigrees using single sperm typing. Am. J. Hum. Genet., 66:167-175

155) Lien, S., Szyda, J., Schechinger, B., Rappold, G. and Arnheim, N. (2000) Evidence for heterogeneity in recombination in the human pseudoautosomal region: High resolution analysis by sperm typing and radiation hybrid mapping. Am. J. Hum. Genet. 66:557-566.

156) Guan, T., Kehlenbach, R.H., Schirmer, E.C., Kehlenbach, A., Fan, F., Clurman, B.E., Arnheim, N. and Gerace, L. (2000) Nup50, a nucleoplasmically oriented nucleoporin with a role in nuclear protein transport. Molecular and Cellular Biology 15: 5619-5630.

157) Han, L-L., Keller, M.P., Navidi, N., Chance, P.F. and Arnheim, N. (2000) Unequal exchange at the CMT1A recombination hotspot is not elevated above the genome average rate. Human Molecular Genetics 9:1881-1889

158) Pathak, S., Choi, S-K., Arnheim, N. and Thompson, M.E. (2001) Hydroxylated quantum dots as luminescent probes for in-situ hybridization. Journal of the American Chemical Society 123: 4103-4104.

159) Qin, J., Baker, S., Te Riele, H., Liskay, R.M. and Arnheim, N. (2002) Evidence for the lack of mismatch-repair directed anti-recombination during mouse meiosis J. Heredity 93:201-205.

160) Lien, S., Szyda, J., Leeflang, E.P., Hubert, R., Zhang, L., Schmitt, K. and Arnheim, N. (2002) Single Sperm Typing. Current Protocols in Human Genetics, Unit 1.6, John Wiley and Sons, New York.

161) Tiemann-Boege, I., Navidi, W., Grewal, R., Cohn, D., Eskenazi, B., Wyrobek, A.J. and Arnheim, N. (2002) The observed human sperm mutation frequency cannot explain the achondroplasia paternal age effect. Proc. Natl. Acad. Sci. USA, Vol. 99, Issue 23,14952-14957.

162) Shinde, D., Lai, Y., Sun, F. and Arnheim, N. (2003) Taq DNA polymerase slippage mutation rates measured by PCR and quasi-likelihood analysis: (CA/GT)(n) and (A/T)(n) microsatellites. Nucleic Acids Res. 31(3):974-80.

163) Lai, Y., Shinde, D., Arnheim, N. and Sun, F. (2003) The mutation process of microsatellites during the polymerase chain reaction. Journal of Computational Biology 10:143-155.

164) Nenguke, T., Aladjem, M.I., Gusella, J.F., Wexler, N.S. and the Venezuela HD

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Project and Arnheim, N. (2003) Candidate DNA replication initiation regions at human trinucleotide repeat disease loci. Human Molecular Genetics, 12:1021-1028.

165) Arnheim, N., Calabrese, P. and Nordborg, N. (2003) 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 73: 5-16.

166) Yoon, S-R., Dubeau, L., de Young, M., Wexler, N.S. and Arnheim, N. (2003) Huntington disease expansion mutations in humans can occur before meiosis is completed. Proc. Natl. Acad. Sci. 100:8834-8

167) Brohede, J., Arnheim, N. and Ellegren, H. (2004) Single molecule analysis of the hypermutable tetranucleotide repeat locus D21S1245 through sperm genotyping: a heterogeneous pattern of mutation but no clear male age effect. Molecular Biology and Evolution: 21:58-64

168) Qin, J., Richardson, L.L., Jasin, M., Handel, M.A. and Arnheim, N. (2004) 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. 24:1655-1666 169) Wexler NS, Lorimer J, Porter J, Gomez F, Moskowitz C, Shackell E, Marder K, Penchaszadeh G, Roberts SA, Gayan 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 Jr, Landwehrmeyer B; U.S.-Venezuela Collaborative Research Project (2004). Venezuelan kindreds reveal that genetic and environmental factors modulate Huntington's disease age of onset. Proc Natl Acad Sci U S A. 101(10):3498- 503.

170) Subramanian, J., Vijayakumar, S., Tomkinson, A. and Arnheim, N. (2005) Genetic Instability Induced by Overexpression of DNA ligase I in Budding Yeast. Genetics. 171(2):427-41. 171) Chen PC, Dudley S, Hagen W, Dizon D, Paxton L, Reichow D, Yoon SR, Yang K, Arnheim N, Liskay RM, Lipkin SM.. (2005) Contributions by MutL Homologs Mlh3 and Pms2 to DNA Mismatch Repair and Tumor Suppression in the Mouse. Cancer Research, 65(19):8662-70.

172) 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. (2006) Differential contributions of Mammalian rad54 paralogs to recombination, DNA damage repair, and meiosis. Mol Cell Biol. 26(3):976-89.

173) Tiemann-Boege, I. Calabrese, P., Cochran, D.C., Sokol, R.Z., Arnheim, N. (2006) High Resolution Recombination Patterns in a Region of Human Chromosome 21 Measured by Sperm Typing. PLoS Genetics 2(5): e70.

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174) Wyrobek AJ, Eskenazi B, Young S, Arnheim N, Tiemann-Boege I, Jabs EW, Glaser RL, Pearson FS, Evenson D. (2006) Advancing age has differential effects on DNA damage, chromatin integrity, gene mutations, and aneuploidies in sperm. Proc Natl Acad Sci U S A. 103(25):9601-6.

175) Clark V, Ptak SE, Tiemann-Boege I, Gian Y, Coop G, Stone AC, Przeworski M, Arnheim N, Di Rienzo A. (2007) Combining sperm typing and LD analyses reveals differences in selective pressures or recombination rates across human populations. Genetics.175(2):795-804.

176) Shelbourne, PF, Keller-McGandy, C, Bi, WL, Yoon, SR, Dubeau, L, Veitch, NJ, Vonsattel, JP, Wexler, NX and the Venezuela Huntington Disease Project, Arnheim, N, Augood, SJ. (2007) Triplet repeat mutation length gains correlate with cell-type specific vulnerability in Huntington disease brain. Human Molecular Genetics. 16(10):1133- 1142.

177) Qin J, Calabrese P, Tiemann-Boege I, Shinde DN, Yoon S-R, Gelfand D, Bauer K, Arnheim, N. (2007) The molecular anatomy of spontaneous germline mutations in human testes. PLOS Biology. Sep;5(9):e224.

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

179) Choi SK, Yoon SR, Calabrese P and Arnheim N. (2008) 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.

180) Arnheim N and Calabrese P, (2009) Understanding what determines the frequency and pattern of human germline mutations. Nature Reviews Genetics Jul;10(7):478-88.

181) Tiemann-Boege I, Curtis C, Shinde DN, Goodman DB, Tavaré S and Arnheim N (2009) Product length dye choice, and detection chemistry in the bead-emulsion amplification of millions of single DNA molecules in parallel. Anal Chem. Jul 15;81(14):5770-6.

182) Yoon SR, Glaser RL, Jabs EW, Wexler NS, Sokol R, Qin J, Arnheim N and Calabrese P. (2009) The ups and downs of mutation frequencies during aging can account for the Apert syndrome paternal age effect. PLOS Genetics 2009 Jul;5(7):e1000558. Epub 2009 Jul 10. 183) Qin J, Subramanian J, and Arnheim N. (2009) Detection of Meiotic DNA Breaks in Mouse Testicular Germ Cells, Meiosis, Volume: 1 (Scott Keeney, ed.), Molecular and Genetic Methods Vol. 557, 165-181. Springer, New York/Berlin. 184) Arnheim N, Calabrese,P (2011) Recurrent Germline Mutations in the FGFR2/3 Genes, High Mutation Frequency, Paternal Skewing and Age- Dependence pp 58–66 in Muenke M, Kress W, Collmann H, Solomon B eds: Craniosynostoses : molecular genetics, principles of diagnosis and treatment. Monographs in Human Genetics vol 19

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Basel: Karger 249 p. 185) Choi S-K , Yoon S-R , Calabrese P , Arnheim N , (2012) Positive Selection for New Disease Mutations in the Human Germline: Evidence from the Heritable Cancer Syndrome Multiple Endocrine Neoplasia Type 2B. PLoS Genet 8(2): e1002420. doi:10.1371/journal.pgen.1002420

186) Yoon S-R, Choi S-K, Eboreime J, Gelb BD, Calabrese P and Arnheim N (2013) Age- dependent germline mosaicism of the most common Noonan syndrome mutation shows the signature of germline selection. Am. J. Hum. Genet. Volume 92, Issue 6, 917-926.

187) Shinde DN, Elmer DP, Calabrese P, Boulanger J, Arnheim N, and Tiemann-Boege I (2013) New evidence for positive selection helps explain the paternal age effect observed in achondroplasia. Hum Mol Genet. 2013 Jun 4. [Epub ahead of print].

188) Arnheim N and Calabrese P, Sperm Germline Stem Cell Competition, Mutation Hot Spots, Genetic Disorders, and Older Fathers in: Annual Review of Genomics and Human Genetics (2016) DOI: 10.1146/annurev-genom-083115-022656

189) Eboreime J, Choi S-K, Yoon S-R, Arnheim N and Calabrese P, Estimating Exceptionally Rare Germline and Somatic Mutation Frequencies via Next Generation Sequencing PLoS ONE, Published: June 24, 2016 http://dx.doi.org/10.1371/journal.pone.0158340

190) Arnheim N and Calabrese P, Frequency of Human Disease Mutations and Spermatogoinal Stem Cell Function in: The Biology of Mammalian Spermatogonia, Oatley and Griswald eds. Springer (2017)