Valuable References

ROSENBERG: VALUABLE REFERENCES

Chapter 1

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Chapter 3

Bearn, A. G. (1994). Archibald Edward Garrod, the reluctant geneticist. Genetics, 143, 1.

Berg, P., & Singer, M. (2003). George Beadle, an uncommon farmer: the emergence of genetics in the 20th century. New York, NY: Cold Spring Harbor Laboratory Press.

Judson, H. F. (1996). The Eighth Day of Creation: The Makers of the Revolution in Biology. New York, NY: Cold Spring Harbor Laboratory Press.

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Watson, J. D. (1968). The Double Helix: A Personal Account of the Discovery of the Structure of DNA. New York, NY: Touchstone.

Chapter 4

Annas, G. J. (2011). Assisted Reproduction - Canada’s Supreme Court and the Global Baby. N. Engl. J. Med., 365, 459e463.

Ferguson-Smith, M. A., & Trifinov, V. (2007). Mammalian karyotype evolution. Nat. Rev. Genet., 8, 950e962.

Handel, M. A., & Schimenti, J. C. (2010). Genetics of mammalian meiosis: regulation, dynamics and impact on fertility. Nat. Rev. Genet., 11, 124e136.

Hegreness, M., & Meselson, M. (2007). What did Sutton see? Thirty years of confusion over the chromosomal basis of Mendelism. Genetics, 176, 1939e1944.

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Ohlsson, R. (2007). Widespread monoallelic expression. Science, 318, 1077e1078.

Trask, B. (2002). Human cytogenetics: 46 chromosomes, 46 years and counting. Nat. Rev. Genet., 3, 769e778.

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Chapter 5

Guttmacher, A. E., Collins, F. S., & Carmona, R. H. (2004). The family history: more important than ever. N. Engl. J. Med., 351, 2333e2336.

Hartl, D. L., & Fairbanks, D. J. (2007). Mud sticks: on the alleged falsification of Mendel’s data. Genetics, 175, 975e979.

Lyon, M. F. (2002). X-Chromosome inactivation and human genetic disease. Acta Paediatr. Suppl., 91, 107e112. McKusick, V. A. (2007). Mendelian inheritance in Man and its online version, OMIM. Am. J. Hum. Genet., 80, 588e604.

Mendel, G. (1966). Experiments in plant hybridization [transl.]. In C. Stern & E. Sherwood (Eds.), The Origins of Genetics: A Mendel Source Book. New York, NY: W.H. Freeman.

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Chapter 6

Armanios, M., Alder, J. K., Parry, E. M., et al. (2009). Short telomeres are sufficient to cause the degenerative defects associated with aging. Am. J. Hum. Genet., 85, 823e832.

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Cordaux, R., & Batzer, M. A. (2009). The impact of retrotransposons on human genome evolution. Nat. Rev. Genet., 10, 691e703.

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Ferguson-Smith, A. C. (2011). Genomic imprinting: the emergence of an epigenetic paradigm. Nat. Rev. Genet., 12, 565e575.

Gresham, D., Dunham, M. J., & Botstein, D. (2008). Comparing whole genomes using DNA microarrays. Nat. Rev. Genet., 9, 291.

Hunter, D. J., Khoury, M. J., & Drazen, J. M. (2008). Letting the genome out of the bottle: will we get our wish? N. Engl. J. Med., 358, 105e107.

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Marshall, E. (2011). Waiting for the revolution. Science, 331, 526e529.

McGuire, A. L., Caulfield, T., & Cho, M. K. (2008). Research ethics and the challenge of whole genome sequencing. Science, 358, 105e107.

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Chapter 7

Feinberg, A. (2007). Phenotype plasticity and the epigenetics of human disease. Nature, 447, 433e440.

Hartl, F. U., & Hayer-Hunt, M. (2002). Molecular chaperones in the cytosol: from nascent chain to folded protein. Science, 295, 1852e1858.

Maniatis, T., & Reed, R. (2002). An extensive network of coupling among gene expression machines. Nature, 416, 499e506.

Miyoshi, N., Barton, S. C., Kaneda, M., et al. (2006). The continuing quest to comprehend genomic imprinting. Cytogenet. Genome Res., 116, 6e11.

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Chapter 8

Antonarakis, S. E. (1998). Recommendations for a nomenclature system for human gene mutations. Nomenclature Working Group. Hum. Mutat., 11, 1e3.

Crow, J. F. (2000). The origins, patterns and implications of human spontaneous mutation. Nat. Rev. Genet., 1, 40e47.

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Chapter 9

Darwin, C. (1969). The Autobiography of Charles Darwin, 1809e1882 [with original omissions restored; edited with appendix and notes by his grand-daughter. New York, NY: Nora Barlow. W.W. Norton.

Davies, R. (2008). The Darwin Conspiracy: Origins of a Scientific Crime. London, UK: Golden Square Books.

Gibbons, A. (2011). A new view of the birth of. Homo sapiens. Science, 331, 392e394.

National Academy of Sciences. (2008). Science, Evolution, and Creationism. Washington, DC: National Academy Press.

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Chapter 10

Garrod, A. (1909). Inborn Errors of Metabolism. London, UK: Oxford University Press.

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Chapter 11

Bahado-Singh, R. O., Choi, S. J., & Cheng, C. C. (2004). First- and mid-trimester Down syndrome screening and detection. Clin. Perinatol., 31, 677e694.

Carrel, L., & Willard, H. F. (1999). Heterogeneous gene expression from the inactive X chromosome: an X-linked gene that escapes X inactivation in some human cell lines but is inactivated in others. Proc. Natl Acad. Sci. USA, 96, 7364e7369.

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Jiang, Y. H., Bressler, J., & Beaudet, A. L. (2004). Epigenetics and human disease. Annu. Rev. Genomics Hum. Genet., 5, 479e510.

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Chapter 12

Antonarakis, S. E., Chakravarti, A., Cohen, J. C., et al. (2010). Mendelian disorders and multifactorial traits: the big divide or one for all? Nat. Rev. Genet., 11, 380e384.

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Sankaran, V. G., Xu, J., Byron, R., et al. (2011). A functional element necessary for fetal hemoglobin silencing. N. Engl. J. Med., 365, 807e814.

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Chapter 13

Barroso, I. (2005). Genetics of type 2 diabetes. Diabet. Med., 22, 517e535.

Cirulli, E. T., & Goldstein, D. B. (2010). Uncovering the roles of rare variants in common disease through whole-genome sequencing. Nat. Rev. Genet., 11, 415e425.

Dixon, M. J., Marazita, M. L., Beaty, T. H., et al. (2011). Cleft lip and palate: understanding genetic and environmental influences. Nat. Rev. Genet., 12, 167e178.

Fanous, A. H., et al. (2009). Bipolar disorder in the era of genomic psychiatry. In H. F. Willard & G. S. Ginsburg (Eds.), Genomic and Personalized Medicine. New York, NY: Elsevier Inc., Ch. 106.

Hirschhorn, J. N. (2009). Genome-wide association studies - illuminating biologic pathways. N. Engl. J. Med., 360, 1699e1701.

Mackay, T. F. C., & Anholt, R. R. H. (2007). Ain’t misbehavin’? Genotype-environment interactions and the genetics of behavior. Trends Genet., 23, 311e314.

Manolio, T. A. (2010). Genome-wide association studies and assessment of the risk of disease. N. Engl. J. Med., 363, 166e176.

Nousbeck, J., Burger, B., Fuchs-Telem, D., et al. (2011). A mutation in a skin-specific isoform of SMARCAD1 causes autosomal-dominant adermatoglyphia. Am. J. Hum. Genet., 89, 302e307.

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Smith, D. J., & Lusis, A. J. (2009). Genomic approaches to complex disease. In H. F. Willard & G. S. Ginsburg (Eds.), Genomic and Personalized Medicine. New York, NY: Elsevier Inc., Ch. 3.

The Wellcome Trust Case Control Constorium. (2007). Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls. Nature, 447, 661e678.

Visscher, P. M., Hill, W. G., & Wray, N. R. (2008). Heritability In the genomics era - concepts and misconceptions. Nat. Rev. Genet., 9, 255e266.

Chapter 14

Eichler, E. E., Flint, J., Gibson, G., et al. (2010). Missing heritability and strategies for finding the underlying causes of complex disease. Nat. Rev. Genet., 11, 446e450.

Knight, H. M., Pickard, B. S., Maclean, A., et al. (2009). A cytogenetic abnormality and rare coding variants identify ABCA13 as a candidate gene in schizophrenia, bipolar disorder, and depression. Am. J. Hum. Genet., 85, 833e846.

Lee, C., Hyland, C., Lee, A. S., et al. (2009). Copy number variation and human health. In H. F. Willard & G. S. Ginsburg (Eds.), Genomic and Personalized Medicine. New York, NY: Elsevier Inc., Ch. 9.

Lupski, J. R. (2009). Genomic disorders ten years on. Genome Med. 1. Article 42.

Lupski, J. R., Reid, J. G., Gonzaga-Jauregui, C., et al. (2010). Whole-genome sequencing in a patient with Charcot-Marie-Tooth neuropathy. N. Engl. J. Med., 362, 1181e1191.

Redon, R., Ishikawa, S., Fitch, K. R., et al. (2006). Global variation in copy number in the human genome. Nature, 444, 444e454.

Sebat, J., Levy, D. L., & McCarthy, S. E. (2009). Rare structural variants in schizophrenia: one disorder, multiple mutations; one mutation, multiple disorders. Trends Genet., 25, 528e535.

Stankiewicz, P., & Lupski, J. R. (2009). Structural variation in the human genome and its role in disease. Annu. Rev. Med., 61, 437e455.

Stranger, B. E. (2007). Relative impact of nucleotide and copy number variation on gene expression phenotypes. Science, 315, 848e853.

Zhang, F., Carvalho, C. M. B., & Lupski, J. R. (2009). Complex human chromosomal and genomic rearrangements. Trends Genet., 25, 298e307.

Chapter 15

Epstein, C. J., Erickson, R. P. &Wynshaw-Boris, A. J. (Eds.). (2004). Wynshaw-Boris. Inborn Errors of Development: The Molecular Basis of Clinical Disorders of Morphogenesis. New York, NY: Oxford University Press.

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Mitchell, L. E., Adzick, N. S., Melchione, J., et al. (2004). Spina bifida. Lancet, 364, 1885e1895.

Chapter 16

Chaffer, C. L., & Weinberg., R. A. (2011). A perspective on cancer cell metastasis. Science, 331, 1559e1564.

Croce, C. M. (2009). Causes and consequences of microRNA dysregulation in cancer. Nat. Rev. Genet., 10, 704e714.

Erez, A., Shchelochkov, O. A., Plon, S. E., et al. (2011). Insights into the pathogenesis and treatment of cancer from inborn errors of metabolism. Am. J. Hum. Genet., 88, 402e421.

Esquela-Kerscher, A., & Slack, F. J. (2006). Oncomirs - microRNAs with a role in cancer. Nat. Rev. Cancer, 6, 259e269.

Frank, S. A. (2004). Genetic predisposition to cancer - insights from population genetics. Nat. Rev. Genet., 5, 764e772.

Levine, A. J. (1997). p53, the cellular gatekeeper for growth and division. Cell, 88, 323.

Lindhurst, M. J., Sapp, J. C., Teer, J. K., et al. (2011). A mosaic activating mutation in AKT1 associated with the proteus syndrome. N. Engl. J. Med., 365, 611e619M.

Mardis, E. R. (2009). Recurring mutations found by sequencing an acute myeloid leukemia genome. N. Engl. J. Med., 361, 1058e1066.

Stratton, M. R. (2011). Exploring the genomes of cancer cells: progress and promise. Science, 331, 1553e1558.

Strausberg, R. L. (2009). Cancer genes, genomes, and the environment. In H. F. Willard & G. S. Ginsburg (Eds.), Genomic and Personalized Medicine. New York, NY: Elsevier Inc., Ch. 67.

Varmus, H. (2006). The new era in cancer research. Science, 312, 1162e1165.

Vogelstein, B., & Kinzler, K. W. (2004). Cancer genes and the pathways they control. Nat. Med., 10, 789e799.

Witte, J. S. (2009). Prostate cancer genomics: towards a new understanding. Nat. Rev. Genet., 10, 77e82.

Chapter 17

Annas, G. J. (2010). Resurrection of a stem-cell funding barrier; Dickey-Wicker in court. N. Engl. J. Med., 363, 1687e1689.

Belmonte, J. C. I., Ellis, J., Hochedlinger, K., et al. (2009). Induced pluripotent stem cells and reprogramming: seeing the science through the hype. Nat. Rev. Genet., 10, 878e883.

Copelan, E. A. (2006). Hematopoietic stem-cell transplantation. N. Engl. J. Med., 354, 1813e1826.

Dietz, H. C. (2010). New therapeutic approaches to Mendelian disorders. N. Engl. J. Med., 363, 852e863.

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Gonza´lez, F., Boue´, S., & Belmonte, J. C. I. (2011). Methods for making induced pluripotent stem cells: reprogramming a` la carte. Nat. Rev. Genet., 12, 231e242.

Hacein-Bey-Abina, S., Hauer, J., Lim, A., et al. (2010). Efficacy of gene therapy for X-linked severe combined immunodeficiency. N. Engl. J. Med., 363, 355e364.

Hammond, S. M., & Wood, M. J. A. (2011). Genetic therapies for RNA mis-splicing diseases. Trends Genet., 27, 196e205.

Kay, M. A. (2011). State-of-the-art gene-based therapies: the road ahead. Nat. Rev. Genet., 12, 316e328.

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Mingozzi, F., & High, K. A. (2011). Therapeutic in vivo gene transfer for genetic disease using AAV: progress and challenges. Nat. Rev. Genet., 12, 341e355.

Rosenberg, L. E., Lilljeqvist, A., & Hsia, Y. E. (1968). Methylmalonic aciduria: metabolic block localization and vitamin B12 dependency. Science, 162, 805e807.

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Chapter 18

Foster, M. W., & Sharp, R. R. (2004). Beyond race: towards a whole-genome perspective on human populations and genetic variation. Nat. Rev. Genet., 5, 790e796.

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King, T. E., & Jobling, M. A. (2009). What’s in a name? Y chromosomes, surnames and the genetic genealogy revolution. Trends Genet., 25, 351e360.

Kuokkhanen, M., Kokkonen, J., Enattah, N. S., et al. (2006). Mutations in the translated region of the lactase gene (LCT) underlie congenital lactase deficiency. Am. J. Hum. Genet., 78, 339e344.

Laland, K. N., Odling-Smee, J., & Myles, S. (2010). How culture shaped the human genome: bringing genetics and the human sciences together. Nat. Rev. Genet., 11, 137e148.

Rotimi, C. N., & Jorde, L. B. (2010). Ancestry and disease in the age of genomic medicine. N. Engl. J. Med., 363, 1551e1558.

Royal, C. D., Novembre, J., Fullerton, S. M., et al. (2010). Inferring genetic ancestry: opportunities, challenges, and implications. Am. J. Hum. Genet., 86, 661e673.

Smith, J. J., Baum, D. A., & Moore, A. (2009). The need for molecular genetic perspectives in evolutionary education (and vice versa). Trends Genet., 25, 427e429.

Weale, M. E., & Goldstein, D. B. (2009). Concepts of population genomics. In H. F. Willard & G. S. Ginsburg (Eds.), Genomic and Personalized Medicine. New York, NY: Elsevier Inc., Ch. 2.

Chapter 19

Altman, R. B., Kroemer, H. K., McCarty, C. A., et al. (2011). Pharmacogenomics: will the promise be fulfilled? Nat. Rev. Genet., 12, 69e73.

Annas, G. J. (2009). Protecting privacy and the public - limits on police use of bioidentifiers in Europe. N. Engl. J. Med., 361, 196e201.

Bloss, C. S., Schork, N. J., & Topol, E. J. (2011). Effect of direct-to-consumer genome-wide profiling to assess disease risk. N. Engl. J. Med., 364, 524e534.

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Nadeau, J. H., & Topol, E. J. (2006). The genetics of health. Nat. Genet., 38, 1095e1098.

Wagner, J. K. (2010). Understanding FDA regulation of DTC genetic tests within the context of administrative law. Am. J. Hum. Genet., 87, 451e456.

Weele, T. V. (2010). Genetic self knowledge and the future of epidemiologic confounding. Am. J. Hum. Genet., 87, 168e172.