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Making Sense of Genes
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    Schmiemann, Philipp Nehm, Ross H. and Tornabene, Robyn E. 2017. Assessment of Genetics Understanding. Science & Education, Vol. 26, Issue. 10, p. 1161.

    Uller, Tobias 2017. Book Review: Making Sense of Genes. Frontiers in Genetics, Vol. 8, Issue. ,

    Jamieson, Annie and Radick, Gregory 2017. Genetic Determinism in the Genetics Curriculum. Science & Education, Vol. 26, Issue. 10, p. 1261.

    Stern, Florian and Kampourakis, Kostas 2017. Teaching for genetics literacy in the post-genomic era. Studies in Science Education, Vol. 53, Issue. 2, p. 193.

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Book description

What are genes? What do genes do? These seemingly simple questions are in fact challenging to answer accurately. As a result, there are widespread misunderstandings and over-simplistic answers, which lead to common conceptions widely portrayed in the media, such as the existence of a gene 'for' a particular characteristic or disease. In reality, the DNA we inherit interacts continuously with the environment and functions differently as we age. What our parents hand down to us is just the beginning of our life story. This comprehensive book analyses and explains the gene concept, combining philosophical, historical, psychological and educational perspectives with current research in genetics and genomics. It summarises what we currently know and do not know about genes and the potential impact of genetics on all our lives. Making Sense of Genes is an accessible but rigorous introduction to contemporary genetics concepts for non-experts, undergraduate students, teachers and healthcare professionals.


'A beautifully and lucidly written book of great insights … I have not seen in one volume such clear analysis of the nuanced view of the 'gene' … A valuable book that gives genes a new and accurate meaning and does justice to understanding genetics in a non-reductive [manner] through a systems approach. The clarity, precision and insights are wonderful.'

Sheldon Krimsky - Tufts University, Massachusetts

'… an extremely intellectual and erudite treatment of the history and meaning of genes and genomes. The book is half hard-core genetics and half provocative and fascinating philosophy of science … cogently written, highly informative and genuinely thought-provoking.'

John Avise - University of California

'… it is really marvelous: very clearly written, very thoughtfully structured and marvellously sensitive to the needs of the reader, especially in providing 'take-home message' summaries just when and where they are most welcome. I especially admired the way the author consistently manages to help the reader dial down expectations when faced with hype about genetic tests and the latest 'gene for' discoveries.'

Gregory Radick - University of Leeds 

'There is a vast and curious mismatch between what biological science has discovered by empirical investigations on the mechanisms of heredity and the understanding of what appears to be the central concept, that of the gene. Despite careful attempts to show both the nature and the significance of this gap, the scientific media, and public perceptions of the concept, persistently follow a successfully popularized view that is not justified by what we now know. Kampourakis’ book is an excellent attempt to correct the situation … by bringing impressive scholastic skills to tackle the problem, the author has in my view made a very major contribution. The book deserves very wide attention.'

Denis Noble - University of Oxford

'Kampourakis provides an excellent critical analysis of the genetic discourse at the intersection of science and the public, based on the latest scientific findings from genomics and systems biology. The book fills an important gap in the literature in terms of the balance it keeps between accessibility and scientific rigour. It calls for a change in the ways students and the public are told what genes are and what they do, and it does so with compelling persuasiveness. A must-read, packed with convincing empirical material, for educators, journalists and academics who are critical of the usual 'gene for' talk, but do not want to give up on the fascinating insights that the science of genetics provides.'

Staffan Müller-Wille - University of Exeter

'… a wonderfully engaging and pedagogical explanation of difficult concepts in biology … Kampourakis has an incredible feeling for how to strike the balance between biological material and conceptual analysis. … If you are teaching life sciences or engaging in any form of public outreach, this book is a must-read. … Throughout, the material is wonderfully up to date … this important book will help us to explain genetics to our friends, students, and fellow academics.'

Tobias Uller Source: Frontiers in Genetics

'… this book addresses the crucial educational and translational science bottlenecks of postgenomics, and delivers on its promise to the readers to move beyond the gene sequence to broader sense making for human genetics and genomics.'

George P. Patrinos Source: OMICS: A Journal of Integrative Biology

'Kampourakis describes concisely how the late 20th century saw a revision in our view of what a gene really is. … [He] comes down hard on the hype surrounding 'decoding the book of life', as well as [those] who did not understand the relationship between DNA sequences and complex characters. … [the book] provides a useful companion to biology undergraduates and the interested layperson will find it informative in its critique of naïve genetic determinism. I would certainly recommend it.'

Charalambos P. Kyriacou Source: BioEssays

'It is not news to most geneticists and those who teach genetics at the college level, for whom this book is mainly pitched, that misconceptions about genes abound in public discourse and in the popular mind. In Making Sense of Genes, Kostas Kampourakis sets out the evidence for this and then carefully and comprehensively unpacks the details of what genes do and do not do. … [W]ith many detailed case studies, Kampourakis dismantles the 'genes for' concept for characters and disorders … In the context of the population and environment, genetic differences among individuals can help explain, not entire phenotypes, but phenotype differences among individuals. In terms of how to frame genetics content for students, this may be the most concise and important take-home message of the book. … a useful and informative refresher and reminder that, for the public, sense can be made of genes if geneticists are clear about concepts and contexts, and realistic about interpretations and implications of their research.'

John R. True Source: The Quarterly Review of Biology

'Making Sense of Genes is an elegantly written book containing many refreshing insights about how the notion of the gene was developed in the late 19th century and how it is used and misused today. … Rather than depending on facile metaphors for gene function ('blueprints', 'programs') like most other popular treatments of biology, the author, Kostas Kampourakis, deftly deconstructs them, showing why they have been adopted, but how they mislead. He convincingly shows that while the notion that there are genes 'for' specific characters, such as height or aggressive behavior, is based on multiple misconceptions, the idea of genes 'for' some diseases, including metabolic disorders and cancers, may have some merit, even though strict causation is rarely straightforward.'

Stuart Newman Source: GeneWatch

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This section aims to provide suggestions for books that one might read in order to explore further the topics discussed in the present book. The list that follows is in no way exhaustive. For simplicity, only the main titles of the books are mentioned here; full details are provided in the list of references, where you will find a lot more books and articles that might be interesting.

If you want to read a single book in order to find out more about the distortions and myths about genes, as well as about the social implications of research in genetics, this should be Genetic Explanations, edited by Sheldon Krimsky and Jeremy Gruber. An older collection of this kind is The Double-Edged Helix edited by Joseph S. Alper, Catherine Ard, Adrienne Asch, Jon Beckwith, Peter Conrad, and Lisa N. Geller. Another relatively old but still very valuable account of the social implications of research in genetics is given in The Limits and Lies of Human Genetic Research by Jonathan Kaplan.

Several books have explicitly addressed, and argued against, genetic determinism. These include The DNA Mystique by Dorothy Nelkin and Susan Lindee; Exploding the Gene Myth by Ruth Hubbard and Elijah Wald; The Doctrine of DNA and The Triple Helix by Richard Lewontin; The Dependent Gene by David S. Moore; The Misunderstood Gene by Michel Morange; The Mirage of a Space between Nature and Nurture by Evelyn Fox Keller; and Genes, Cells and Brains by Hilary Rose and Stephen Rose. For the relation between nature and nurture, Evelyn Fox Keller’s book The Mirage of a Space between Nature and Nurture is the best one to start with. James Tabery’s Beyond Versus provides an interesting account of relevant historical controversies on this topic.

For an overview of the history of the gene concept, one could start with Evelyn Fox Keller’s The Century of the Gene. A very interesting book is The Gene: From Genetics to Postgenomics by Hans-Jörg Rheinberger and Staffan Müller-Wille, which presents a rich and concise account of the role that the gene concept has played in research. Another useful resource is the “Gene” entry by Hans-Jörg Rheinberger, Staffan Müller-Wille, and Robert Meunier in Stanford Encyclopedia of Philosophy. A more detailed account of the history of the gene concept is given in the book The Concept of the Gene in Development and Evolution, edited by Peter Beurton, Raphael Falk, and Hans-Jörg Rheinberger. For a philosophical account of genetics, a very good book is Genetics and Philosophy by Paul Griffiths and Karola Stotz. Another interesting book of this kind is What Genes Can’t Do by Lenny Moss. For philosophical accounts focusing on genomics research, the books Genomes and What to Make of Them by Barry Barnes and John Dupré, and Postgenomics, edited by Hallam Stevens and Sarah Richardson, will be rewarding readings.

The first histories of genetics were written by two researchers of the era of classical genetics. These are Alfred Sturtevant’s A History of Genetics and Leslie Dunn’s A Short History of Genetics. They were both published in 1965, on the centenary of the presentation of Mendel’s paper, and they are good places to start. Another overview of twentieth-century genetics is provided in Genetic Analysis by Raphael Falk, whereas a comprehensive overview is also given in the respective chapters of Jan Sapp’s Genesis. A very important resource that presents the study of heredity in its historical and cultural contexts is A Cultural History of Heredity by Staffan Müller-Wille and Hans-Jörg Rheinberger. Many classic books and papers of genetics are made available from Electronic Scholarly Publishing at The journal Genetics also contains numerous “perspective” articles on the history of genetics.

There also exist excellent books for the various historical periods. For the pre-1900 period and the origins of mendelian genetics, the best book is definitely Robert Olby’s Origins of Mendelism. Another interesting book on this topic is The Mendelian Revolution by Peter Bowler. For the life and work of Mendel the most authoritative source are Vitezlav Orel’s writings, such as his book Mendel. A complete overview of classical genetics is given in Elof Axel Carlson’s Mendel’s Legacy. A detailed study of the work done by Morgan and his colleagues is Robert Kohler’s book Lords of the Fly. For the work of Morgan, one might also look at Garland Allen’s Thomas Hunt Morgan: the Man and His Science. The single best resource on eugenics is the book In the Name of Eugenics by Daniel Kevles. Diane Paul’s The Politics of Heredity and Controlling Human Heredity are also very useful resources. For the history of the emergence of genetic medicine from eugenics, two interesting books are Moments of Truth in Genetic Medicine by Susan Lindee, and The Science of Human Perfection by Nathaniel Comfort.

Coming to molecular biology, an amazing resource is the Eighth Day of Creation by Horace Freeland Judson, who wrote it based on interviews with most of the scientists involved. Michel Morange also gives a wide-ranging overview of the history of molecular biology in his likewise titled book. For the background and the events leading to the model of the double helix of DNA, one should read Robert Olby’s The Path to the Double Helix. For a detailed account of how the genetic code was solved, one should look at Lily Kay’s Who Wrote the Book of Life, and Matthew Cobb’s Life’s Greatest Secret. Finally, detailed and interesting narratives of the human genome project and of the development of companies producing genetic tests and DNA-sequencing machines are given in Cracking the Genome and in The $1000 Genome, respectively, both authored by Kevin Davies.

Several recent books provide accounts of current research in genomics. Kat Arney’s Herding Hemingway’s Cats provides an interesting account of recent findings about genes through interviews with several leading researchers. An accessible introduction to genetics that can also serve as a primer for the basics in molecular genetics is Genetic Twists of Fate by Stanley Fields and Mark Johnston. John Parrington’s The Deeper Genome is a very informative and very updated account of genomics research so far. Another useful resource on this topic is Nessa Carey’s Junk DNA.

Epigenetics is a recent and difficult-to-treat topic, because it differs from conventional textbook biology and because there is still a lot that we do not know. A nice, readable introduction is Epigenetics by Richard Francis. However, if you really want to understand the details without getting lost in them, the best book to start with is The Developing Genome by David Moore. Another interesting and detailed, but a bit more technical account, is given by Nessa Carey in The Epigenetics Revolution. For a broader discussion of nongenetic inheritance under an evolutionary perspective, an excellent book is Evolution in Four Dimensions by Eva Jablonka and Marion Lamb. For an introduction to evolutionary theory itself, and to the difficulties in understanding it, my book Understanding Evolution might be useful.

Genetics makes more sense in the light of development, and so it is absolutely necessary that one understands what development is and how it takes place. A very nice starting point is the book Life Unfolding by Jamie Davies, which provides a readable and accurate narrative of human development. A similarly readable account of human development and other aspects of human life is given in How We Live and Why We Die by Lewis Wolpert. Developmental Biology by the same author also provides a useful and brief account of various aspects of development in various organisms. A wonderful collection of philosophical accounts for genes in development and against gene centrism is Genes in Development edited by Eva Neumann-Held and Christoph Rehmann-Sutter.

There are many books about how to best handle the information the genetic and genomic tests might provide. Genomic Messages by George Annas and Sherman Elias provides both an updated account of the current issues at stake and sensible suggestions on how to deal with them. Other books are written by physicians and provide accounts of the struggles and questions that people have to face when making actual decisions about genetic testing. Two such books are Am I My Genes? by Robert Klitzman and The Age of Genomes by Steven Lipkin and Jon Luoma. An optimistic, but rather balanced and accessible, guide to genomic medicine is the book Genomics and Personalized Medicine by Michael Snyder.

Some broader reflection is crucial for understanding genetics research. Two excellent and highly readable books about how science is done are Stuart Firenstein’s Ignorance and Failure. Newton’s Apple and Other Myths about Science, edited by Ronald Numbers and me, includes short essays that debunk popular historical myths about science. If you want to understand probabilities and risks, Gerd Gigerenzer’s Calculated Risks is a very readable, accessible, and enjoyable account of the relevant issues. A similarly interesting and useful introduction to probabilities is The Improbability Principle by David Hand.

For those interested in reading the details of the respective research and scholarship, there are numerous citations in the main text of the present book that direct the reader to the lengthy list of references at the end of this book. The citations follow each point made, so the interested reader should read the article or book cited at the end of every argument or piece of evidence. Beyond that, the literature is enormous. If you really want to start exploring journals on genetics, it is best to start with reviews on the respective topics published in Nature Reviews Genetics, Cell, Nature and Science.

Abifadel, M., Rabès, J. P., Jambart, S. et al. (2009). The molecular basis of familial hypercholesterolemia in Lebanon: spectrum of LDLR mutations and role of PCSK9 as a modifier gene. Human Mutation, 30(7), E682E691.
Abifadel, M., Varret, M., Rabès, J.-P. et al. (2003). Mutations in PCSK9 cause autosomal dominant hypercholesterolemia. Nature Genetics, 34, 154156.
Adams, M. C., Evans, J. P., Henderson, G. E., Berg, J. S., & GeneScreen Investigators. (2015). The promise and peril of genomic screening in the general population. Genetics in Medicine, 18(6), 593599.
Adkins, N. L., & Georgel, P. T. (2010). MeCP2: structure and function. Biochemistry and Cell Biology, 89(1), 111.
Alberts, B., Bray, D., Hopkin, K. et al. (2010). Essential Cell Biology (3rd edn). New York and London: Garland Science.
Alexandrov, L. B., Jones, P. H., Wedge, D. C. et al. (2015). Clock-like mutational processes in human somatic cells. Nature Genetics, 47(12), 14021407.
Alfirevic, Z., Sundberg, K., & Brigham, S. (2009). Amniocentesis and chorionic villus sampling for prenatal diagnosis. Cochrane Review, 1, 1142.
Alkuraya, F. S. (2015). Human knockout research: new horizons and opportunities. Trends in Genetics, 31(2), 108115.
Allen, G. E. (1997). The social and economic origins of genetic determinism: a case history of the American eugenics movement, 1900–1940, and its lessons for today. Genetica, 99, 7788.
Allen, G. E. (1978a). Life Science in the Twentieth Century. Cambridge: Cambridge University Press.
Allen, G. E. (1978b). Thomas Hunt Morgan: The Man and His Science. Princeton: Princeton University Press.
Allen, G. E. (2003). Mendel and modern genetics: the legacy for today. Endeavour, 27, 6368.
Allen, G. E. (2014). Origins of the classical gene concept, 1900–1950: genetics, mechanistic philosophy, and the capitalization of agriculture. Perspectives in Biology and Medicine, 57(1), 839.
Allen, H. L., Estrada, K., Lettre, G. et al. (2010). Hundreds of variants clustered in genomic loci and biological pathways affect human height. Nature, 467(7317), 832838.
American Cancer Society (2016). Cancer Facts & Figures. Atlanta: American Cancer Society.
Angelman, H. (1965). “Puppet” children: a report on three cases. Developmental Medicine & Child Neurology, 7(6), 681688.
Annas, G. J., & Elias, S. (2014). 23andMe and the FDA. New England Journal of Medicine, 370(11), 985988.
Annas, G. J., & Elias, S. (2015). Genomic Messages: How the Evolving Science of Genetics Affects Our Health, Families, and Future. New York: HarperOne.
Arney, A. (2016). Herding Hemingway’s Cats: Understanding How Our Genes Work. London & New York: Bloomsbury Sigma.
Arthur, W. (2004). Biased Embryos and Evolution. New York: Cambridge University Press.
Avery, O. T., MacLeod, C. M., & McCarty, M. (1944). Studies of the chemical nature of the substance inducing transformation of pneumococcal types: induction of transformation by a desoxyribonucleic acid fraction isolated from Pneumococcus Type III. Journal of Experimental Medicine, 79, 137158.
Avise, J. C. (2001). Evolving genomic metaphors: a new look at the language of DNA. Science, 294(5540), 8687.
Baltimore, D. (1970). RNA-dependent DNA polymerase in virions of RNA tumor viruses. Nature, 226, 12091211.
Baltimore, D. (1971). Expression of animal virus genomes. Bacteriological Reviews, 35(3), 235.
Baran, Y., Subramaniam, M., Biton, A. et al. (2015). The landscape of genomic imprinting across diverse adult human tissues. Genome Research, 25(7), 927936.
Barnes, B., & Dupré, J. (2008). Genomes and What to Make of Them. Chicago: University of Chicago Press.
Barrell, B. G., Air, G. M., & Hutchison, C. A. 3rd (1976). Overlapping genes in bacteriophage phiX174. Nature, 264(5581), 3441.
Bartolomei, M. S. (2009). Genomic imprinting: employing and avoiding epigenetic processes. Genes & Development, 23(18), 21242133.
Bateson, P., & Gluckman, P. (2011). Plasticity, Robustness, Development and Evolution. Cambridge: Cambridge University Press.
Bateson, W. (1902). Mendel’s Principles of Heredity: A Defence. London: Cambridge University Press.
Bazak, L., Haviv, A., Barak, M. et al. (2014). A-to-I RNA editing occurs at over a hundred million genomic sites, located in a majority of human genes. Genome Research, 24(3), 365376.
Beadle, G. W., & Tatum, E. L. (1941). Genetic control of biochemical reactions in Neurospora. Proceedings of the National Academies of Science, USA, 27, 499506.
Beckwith, J. (2002). Genetics in society: society in genetics. In Alper, J., Ard, C., Asch, A. et al. (Eds.) The Double-Edged Helix: Social Implication of Genetics in a Diverse Society. Baltimore: Johns Hopkins University Press, 3957.
Beckwith, J. (2013). The persistent influence of failed scientific ideas. In Krimsky, S. and Gruber, J. (Eds). Genetic Explanations: Sense and Nonsense. Cambridge MA: Harvard University Press, 173185.
Beckwith, J., & King, J. (1974). The XYY syndrome: a dangerous myth. New Scientist, 64(923), 474476.
Benne, R., Van Den Burg, J. Brakenhoff, J. P. J. et al. (1986). Major transcript of the frameshifted coxll gene from trypanosome mitochondria contains four nucleotides that are not encoded in the DNA. Cell, 46, 819826.
Benzer, S. (1955). Fine structure of a genetic region in bacteriophage. Proceedings of the National Academies of Science USA, 41, 344354.
Benzer, S. (1957). The elementary units of heredity. In Symposium on the Chemical Basis of Heredity. Baltimore: Johns Hopkins University Press, pp. 7093.
Berget, S. M., Moore, C., & Sharp, P. A. (1977). Spliced segments at the 5’terminus of adenovirus 2 late mRNA. Proceedings of the National Academy of Sciences, 74(8), 31713175.
Berry, S. A., Brown, C., Grant, M. et al. (2013). Newborn screening 50 years later: access issues faced by adults with PKU. Genetics in Medicine, 15(8), 591599.
Betteridge, D. J. (2013). Cardiovascular endocrinology in 2012: PCSK9 – an exciting target for reducing LDL-cholesterol levels. Nature Reviews Endocrinology, 9(2), 7678.
Beurton, P., Falk, R., & Rheinberger, H. J. (Eds.) (2000). The Concept of the Gene in Development and Evolution. Historical and Epistemological Perspectives. Cambridge: Cambridge University Press.
Bhattacharyya, M. K., Smith, A. M., Ellis, T. N., Hedley, C., & Martin, C. (1990). The wrinkled-seed character of pea described by Mendel is caused by a transposon-like insertion in a gene encoding starch-branching enzyme. Cell, 60(1), 115122.
Bianchi, D. W. (2012). From prenatal genomic diagnosis to fetal personalized medicine: progress and challenges. Nature Medicine, 18(7), 10411051.
Bickel, H., Gerrard, J., & Hickmans, E. M. (1953). Influence of phenylalanine intake on phenylketonuria. The Lancet, 265, 812813.
Biggs, A., Hagins, W. C., Holliday, W. G., Kapicka, C. L., & Lundgren, L. (2009). Glencoe Science: Biology. New York: McGraw-Hill.
Bird, A., Taggart, M., Frommer, M., Miller, O. J., & Macleod, D. (1985). A fraction of the mouse genome that is derived from islands of nonmethylated, CpG-rich DNA. Cell, 40(1), 9199.
Blau, N., Shen, N., & Carducci, C. (2014). Molecular genetics and diagnosis of phenylketonuria: state of the art. Expert Review of Molecular Diagnostics, 14(6), 655671.
Blau, N., van Spronsen, F. J., & Levy, H. L. (2010). Phenylketonuria. The Lancet, 376(9750), 14171427.
Bloss, C. S., Schork, N. J., & Topol, E. J. (2011) Effect of direct-to-consumer genomewide profiling to assess disease risk. New England Journal of Medicine, 364, 524534.
Borzekowski, D. L. G., Guan, Y., Smith, K. C., Erby, L. H., & Roter, D. L. (2013). The Angelina effect: immediate reach, grasp, and impact of going public. Genetics in Medicine, 16, 516521.
Botstein, D. (2015). Decoding the Language of Genetics. Cold Spring Harbor: Cold Spring Harbor Laboratory Press.
Bowler, P. J. (1989). The Mendelian Revolution: The Emergence of Hereditarian Concepts in Modern Science and Society. Baltimore: Johns Hopkins University Press.
Braam, J., & Davis, R. W. (1990). Rain-, wind-, and touch-induced expression of calmodulin and calmodulin-related genes in Arabidopsis. Cell, 60(3), 357364.
Brannigan, A. (1979). The reification of Mendel. Social Studies of Science, 9, 423454.
Brannigan, A. (1981). The Social Basis of Scientific Discoveries. Cambridge: Cambridge University Press.
Braude, P., Pickering, S., Flinter, F., & Ogilvie, C. M. (2002). Preimplantation genetic diagnosis. Nature Reviews Genetics, 3(12), 941955.
Brenner, S. (1998). Refuge of spandrels. Current Biology, 8(19), R669.
Brenner, S., Jacob, F., & Meselson, M. (1961). An unstable intermediate carrying information from genes to ribosomes for protein synthesis. Nature, 190, 576581.
Britten, R. J., & Davidson, E. H. (1969). Gene regulation for higher cells: a theory. Science, 165(3891), 349357.
Brookes, A. J. (1999). The essence of SNPs. Gene, 234(2), 177186.
Brooks, W. K. (1883). The Law of Heredity: A Study of the Cause of Variation and the Origin of Living Organisms (2nd ed.). Baltimore and New York: John Murphy & Co.
Brownell, J. E., & Allis, C. D. (1996). Special HATs for special occasions: linking histone acetylation to chromatin assembly and gene activation. Current Opinion in Genetics & Development, 6(2), 176184.
Brunner, H. G., Nelen, M. R., Van Zandvoort, P. et al. (1993). X-linked borderline mental retardation with prominent behavioral disturbance: phenotype, genetic localization, and evidence for disturbed monoamine metabolism. American Journal of Human Genetics, 52(6), 10321039.
Brunner, H. G., Nelen, M., Breakefield, X. O. et al. (1993). Abnormal behavior associated with a point mutation in the structural gene for monoamine oxidase A. Science, 262(5133), 578580.
Brush, S. G. (1978). Nettie M. Stevens and the discovery of sex determination by chromosomes. Isis, 69(2), 163172.
Burbridge, D. (2001). Francis Galton on twins, heredity and social class. The British Journal for the History of Science, 34(3), 323340.
Burian, R. M., & Kampourakis, K. (2013). Against “genes for”: could an inclusive concept of genetic material effectively replace gene concepts? In Kampourakis, K. (Ed.) The Philosophy of Biology: A Companion for Educators. Dordrecht: Springer, 597628.
Byrd, A. L., & Manuck, S. B. (2014). MAOA, childhood maltreatment, and antisocial behavior: meta-analysis of a gene-environment interaction. Biological Psychiatry, 75(1), 917.
Carey, N. (2012). The Epigenetics Revolution: How Modern Biology Is Rewriting Our Understanding of Genetics, Disease, and Inheritance. New York: Columbia University Press.
Carey, N. (2015). Junk DNA: A Journey through the Dark Matter of the Genome. New York: Columbia University Press.
Carlson, E. A. (2004) Mendel’s Legacy: The Origin of Classical Genetics. Cold Spring Harbor, NY: Cold Spring Harbor Laboratory Press.
Carver, R., Waldahl, R., & Breivik, J. (2008). Frame that gene. EMBO Reports, 9(10), 943947.
Carver, R. B., Rødland, E. A., & Breivik, J. (2013). Quantitative frame analysis of how the gene concept is presented in tabloid and elite newspapers. Science Communication, 35(4), 449475.
Casey, M. D., Segall, L. J., Street, D. R. K., & Blank, C. E. (1966). Sex chromosome abnormalities in two state hospitals for patients requiring special security. Nature, 209, 641642.
Caspi, A., McClay, J., Moffitt, T. E. et al. (2002). Role of genotype in the cycle of violence in maltreated children. Science, 297(5582), 851854.
Castera, J., & Clement, P. (2014). Teachers’ conceptions about genetic determinism of human behaviour: a survey in 23 countries. Science & Education, 23(2), 417443.
Castle, W. E. (1903). Mendel’s law of heredity. Science, 18(456), 396406.
Cattanach, B. M. (1986). Parental origin effects in mice. Journal of Embryology and Experimental Morphology, 97(Supplement), 137150.
Cattanach, B. M., & Kirk, M. (1985). Differential activity of maternally and paternally derived chromosome regions in mice. Nature, 315(6019), 496498.
Caulfield, T., & McGuire, A. L. (2012). Direct-to-consumer genetic testing: perceptions, problems, and policy responses. Annual Review of Medicine, 63, 2333.
Cech, T. R., & Steitz, J. A. (2014). The noncoding RNA revolution – trashing old rules to forge new ones. Cell, 157(1), 7794.
Centerwall, S. A., & Centerwall, W. R. (2000). The discovery of phenylketonuria: the story of a young couple, two retarded children, and a scientist. Pediatrics, 105(1), 89103.
Chen, R., Mias, G. I., Li-Pook-Than, J. et al. (2012). Personal omics profiling reveals dynamic molecular and medical phenotypes. Cell, 148(6), 12931307.
Chen, R., Shi, L., Hakenberg, J. et al. (2016). Analysis of 589,306 genomes identifies individuals resilient to severe Mendelian childhood diseases. Nature Biotechnology, 34(5), 531538.
Cheung, B., Dar-Nimrod, I., & Gonsalkorale, K. (2014). Am I my genes? Perceived genetic etiology, intrapersonal processes, and health. Social and Personality Psychology Compass, 8(11), 626637.
Chow, L. T., Gelinas, R. E., Broker, T. R., & Roberts, R. J. (1977). An amazing sequence arrangement at the 5′ ends of adenovirus 2 messenger RNA. Cell, 12(1), 18.
Cobb, M. (2006). Heredity before genetics: a history. Nature Reviews Genetics, 7, 953958.
Cobb, M. (2015). Life’s Greatest Secret: The Story of the Race to Crack the Genetic Code. London: Profile Books.
Cohen, J. C., Boerwinkle, E., Mosley, T. H., Jr., & Hobbs, H. H. (2006). Sequence variations in PCSK9, low LDL, and protection against coronary heart disease. New England Journal of Medicine, 354, 12641272.
Collins, F. S. (1999). Medical and societal consequences of the Human Genome Project. New England Journal of Medicine, 341(1), 2837.
Collins, F. S. (2010). The Language of Life: DNA and the Revolution in Personalized Medicine. New York: Harper.
Collins, F. S., & Varmus, H. (2015). A new initiative on precision medicine. New England Journal of Medicine, 372, 793795.
Comfort, N. (2012). The Science of Human Perfection: How Genes Became the Heart of American Medicine. New Haven & London: Yale University Press.
Condit, C. M. (1999). How the public understands genetics: non-deterministic and non-discriminatory interpretations of the “blueprint” metaphor. Public Understanding of Science, 8, 169180.
Condit, C. M. (2007). How geneticists can help reporters to get their story right. Nature Reviews Genetics, 8, 815820.
Condit, C. M. (2010a). Public attitudes and beliefs about genetics. Annual Review of Genomics and Human Genetics, 11, 339359.
Condit, C. M. (2010b). Public understandings of genetics and health. Clinical Genetics, 77, 19.
Condit, C. M., Ofulue, N., & Sheedy, K. M. (1998). Determinism and mass-media portrayals of genetics. American Journal of Human Genetics, 62(4), 979984.
Condit, C. M., Ferguson, A., Kassel, R. et al. (2001). An exploratory study of the impact of news headlines on genetic determinism. Science Communication, 22(4), 379395.
Cooley, T. B., & Lee, P. (1925). A series of cases of splenomegaly in children with anemia and peculiar bone changes. American Journal of Diseases of Children, 30, 447.
Correns, C. (1950/1900). G. Mendel’s law concerning the behavior of progeny of varietal hybrids. Genetics, 35, 3341.
Couzin-Frankel, J. (2015a). Bad luck and cancer: a science reporter’s reflections on a controversial story. Science (available at
Couzin-Frankel, J. (2015b). The bad luck of cancer. Science, 347(6217), 12.
Cranor, C. F. (2013). Assessing genes as causes of human disease in a multi-causal world. In Krimsky, S., & Gruber, J. (Eds.) Genetic Explanations: Sense and Nonsense. Cambridge MA: Harvard University Press, 107121.
Creighton, H. B., & McClintock, B. (1931). A correlation of cytological and genetical crossing-over in Zea mays. Proceedings of the National Academy of Sciences, 17(8), 492497.
Crick, F. (1958). On protein synthesis. Symposium of the Society of Experimental Biology, 12, 138163.
Crick, F. (1970). Central dogma of molecular biology. Nature, 227, 561563.
Crick, F. (1979). Split genes and RNA splicing. Science, 204, 264271.
Crick, F. H. C., Griffith, J. S., & Orgel, L. E. (1957). Codes without commas. Proceedings of the National Academy of Sciences, 43, 416421.
Crick, F. H. C. (1988), What Mad Pursuit: A Personal View of Scientific Discovery. New York: Basic Books.
Crick, F. H. C., Barnett, L., Brenner, S., & Watts-Tobin, R. J. (1961). General nature of the genetic code for proteins. Nature, 192, 12271232.
Dar-Nimrod, I. (2012). Postgenomics and genetic essentialism. Behavioral and Brain Sciences, 35, 362363.
Dar-Nimrod, I., & Heine, S. J. (2011). Genetic essentialism: on the deceptive determinism of DNA. Psychological Bulletin, 137(5), 800818.
Dar-Nimrod, I., Cheung, B., Ruby, M., & Heine, S. (2014). Can merely learning about obesity genes affect eating behavior? Appetite, 81, 269276.
Darden, L. (1991). Theory Change in Science: Strategies from Mendelian Genetics. New York: Oxford University Press.
Darwin, C. (1859). On the Origin of Species by Means of Natural Selection. London: John Murray.
Darwin, C. (1868). The Variation of Animals and Plants under Domestication. London: John Murray.
Darwin, C. (1871). Pangenesis. Nature, 3, 502503.
Davenport, G. C., & Davenport, C. B. (1907). Heredity of eye-color in man. Science, 26, 590592.
Davies, J. A. (2014). Life Unfolding: How the Human Body Creates Itself. Oxford: Oxford University Press.
Davies, K. (2001). Cracking the Genome: Inside the Race to Unlock Human DNA. New York: Free Press.
Davies, K. (2010). The $1,000 Genome: The Revolution in DNA Sequencing and the New Era of Personalized Medicine. New York: Free Press.
Dawson, M. A., & Kouzarides, T. (2012). Cancer epigenetics: from mechanism to therapy. Cell, 150(1), 1227.
De Vries, H. (1910/1889). Intracellular Pangenesis. Chicago: Open Court Publishing Co.
De Vries, H. (1950/1900). Concerning the law of segregation of hybrids. Genetics, 35, 3032.
Denney, R. M., Koch, H., & Craig, I. W. (1999). Association between monoamine oxidase A activity in human male skin fibroblasts and genotype of the MAOA promoter-associated variable number tandem repeat. Human Genetics, 105(6), 542551.
Depew, D. J., & Weber, B. H. (1995). Darwinism evolving: Systems dynamics and the genealogy of natural selection. Cambridge MA: MIT Press.
Dermitzakis, E. T. (2012). Cellular genomics for complex traits. Nature Reviews Genetics, 13, 215220.
DiSilvestre, D., Koch, R., & Groffen, J. (1991). Different clinical manifestations of hyperphenylalaninemia in three siblings with identical phenylalanine hydroxylase genes. American Journal of Human Genetics, 48(5), 10141016.
Dixon, J., Jones, N. C., Sandell, L. L. et al. (2006). Tcof1/Treacle is required for neural crest cell formation and proliferation deficiencies that cause craniofacial abnormalities. Proceedings of the National Academy of Sciences, 103(36), 1340313408.
Donnelly, P. (2008). Progress and challenges in genome-wide association studies in humans. Nature, 456(7223), 728731.
Donovan, J., & Venville, G. (2014). Blood and bones: the influence of the mass media on Australian primary school children’s understandings of genes and DNA. Science & Education, 23(2), 325360.
Doolittle, W. F. (2013). Is junk DNA bunk? A critique of ENCODE. Proceedings of the National Academy of Sciences, 110(14), 52945300.
Du, J., Johnson, L. M., Jacobsen, S. E., & Patel, D. J. (2015). DNA methylation pathways and their crosstalk with histone methylation. Nature Reviews Molecular Cell Biology, 16(9), 519532.
Duffy, D. L., Montgomery, G. W., Chen, W. et al. (2007). A three–single-nucleotide polymorphism haplotype in intron 1 of OCA2 explains most human eye-color variation. American Journal of Human Genetics, 80(2), 241252.
Duncan, R. G., & Reiser, B. J. (2007). Reasoning across ontologically distinct levels: students’ understandings of molecular genetics. Journal of Research in Science Teaching, 938959.
Dunn, L. C. (1991/1965). A Short History of Genetics. Ames Iowa: Iowa State University Press.
Easton, D. F., Pharoah, P. D., Antoniou, A. C. et al. (2015). Gene-panel sequencing and the prediction of breast-cancer risk. New England Journal of Medicine, 372(23), 22432257.
Ecker, U. K., Lewandowsky, S., Chang, E. P., & Pillai, R. (2014). The effects of subtle misinformation in news headlines. Journal of Experimental Psychology: Applied, 20(4), 323335.
Eddy, S. R. (2013). The ENCODE project: missteps overshadowing a success. Current Biology, 23(7), R259R261.
Edwards, M., Cha, D., Krithika, S., et al. (2016). Iris pigmentation as a quantitative trait: variation in populations of European, East Asian and South Asian ancestry and association with candidate gene polymorphisms. Pigment Cell & Melanoma Research, 29(2): 141162.
Eiberg, H., Troelsen, J., Nielsen, M., et al. (2008). Blue eye color in humans may be caused by a perfectly associated founder mutation in a regulatory element located within the HERC2 gene inhibiting OCA2 expression. Human Genetics, 123, 177187.
ENCODE Project Consortium (2007). Identification and analysis of functional elements in 1% of the human genome by the ENCODE pilot project. Nature, 447(7146), 799816.
ENCODE Project Consortium (2012). An integrated encyclopedia of DNA elements in the human genome. Nature, 489(7414), 5774.
Engel, E. (1972). The making of an XYY. American Journal of Mental Deficiency, 77(2), 123127.
Enns, G. M., Koch, R., Brumm, V. et al. (2010). Suboptimal outcomes in patients with PKU treated early with diet alone: revisiting the evidence. Molecular Genetics and Metabolism, 101(2), 99109.
Erbilgin, A., Civelek, M., Romanoski, C. E. et al. (2013). Identification of CAD candidate genes in GWAS loci and their expression in vascular cells. Journal of Lipid Research, 54, 18941905.
Esteller, M. (2008). Epigenetics in cancer. New England Journal of Medicine, 358(11), 11481159.
Esteller, M. (2011). Epigenetic changes in cancer. F1000 Biol Rep, 3, 9. doi: 10.3410/B3-9
Etchegary, H., Cappelli, M., Potter, B. et al. (2010). Attitude and knowledge about genetics and genetic testing. Public Health Genomics, 13(2), 8088.
Evans, J. P., Meslin, E.M., Marteau, T.M. et al. (2011). Deflating the genomic bubble. Science, 331, 861862.
Falk, R. (2009). Genetic Analysis: A History of Genetic Thinking. Cambridge: Cambridge University Press.
Farajollahi, S., & Maas, S. (2010). Molecular diversity through RNA editing: a balancing act. Trends in Genetics, 26(5), 221230.
Feinberg, A. P., & Tycko, B. (2004). The history of cancer epigenetics. Nature Reviews Cancer, 4, 143153.
Feng, S., Jacobsen, S. E., & Reik, W. (2010). Epigenetic reprogramming in plant and animal development. Science, 330(6004), 622627.
Fernàndez-Castillo, N., & Cormand, B. (2016). Aggressive behavior in humans: genes and pathways identified through association studies. American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, 171(5), 676–696.
Feuk, L., Carson, A. R., & Scherer, S. W. (2006). Structural variation in the human genome. Nature Reviews Genetics, 7(2), 8597.
Ficks, C. A., & Waldman, I. D. (2014). Candidate genes for aggression and antisocial behavior: a meta-analysis of association studies of the 5HTTLPR and MAOA-uVNTR. Behavior Genetics, 44(5), 427444.
Fields, S., & Johnston, M. (2010). Genetic Twists of Fate. Cambridge MA: MIT Press.
Firenstein, S. (2012). Ignorance: How It Drives Science. Oxford: Oxford University Press.
Firenstein, S. (2016). Failure: Why Science Is so Successful. Oxford: Oxford University Press.
Følling, A. (1934). The excretion of phenylpyruvic acid in the urine, an anomaly of metabolism in connection with imbecility. Zeitschrift fur Physiologische Chemie, 227, 169176.
Følling, I. (1994). The discovery of phenylketonuria. Acta Paediatrica, 83(s407), 410.
Fox, R. G. (1971). The XYY offender: a modern myth? Journal of Criminal Law, Criminology, and Police Science, 62(1), 5973.
Fraga, M. F., Ballestar, E., Paz, M. F. et al. (2005). Epigenetic differences arise during the lifetime of monozygotic twins. Proceedings of the National Academy of Sciences, 102(30), 1060410609.
Franklin, R., & Gosling, R. G. (1953). Molecular configuration in sodium thymonucleate. Nature, 171, 740741.
Frazer, K. A., Murray, S. S., Schork, N. J., & Topol, E. J. (2009). Human genetic variation and its contribution to complex traits. Nature Reviews Genetics, 10(4), 241251.
Frudakis, T., Terravainen, T., & Thomas, M. (2007). Multilocus OCA2 genotypes specify human iris colors. Human Genetics, 122(3–4), 311326.
Frudakis, T., Thomas, M., Gaskin, Z. et al. (2003). Sequences associated with human iris pigmentation. Genetics, 165(4), 20712083.
Fung-Leung, W. P., Schilham, M. W., Rahemtulla, A. et al. (1991). CD8 is needed for development of cytotoxic T but not helper T cells. Cell, 65(3), 443449.
Galton, F. (1871a). Experiments in pangenesis, by breeding from rabbits of a pure variety, into whose circulation blood taken from other varieties had previously been largely transfused. Proceedings of the Royal Society, 19, 393410.
Galton, F. (1871b). Pangenesis. Nature, 4, 56.
Galton, F. (1874). English Men of Science: Their Nature and Nurture. London: Macmillan & Co.
Galton, F. (1876). A theory of heredity. Journal of the Anthropological Institute, 5, 329348.
Galton, F. (1886). Hereditary stature. Nature, 33, 295298.
Galton, F. (1889). Natural Inheritance. London: Macmillan
Gannett, L. (1999). What’s in a cause? The pragmatic dimensions of genetic explanations. Biology and Philosophy, 14, 349373.
Gannett, L. (2013). Genomics and society: why “discovery” matters. In Kampourakis, K. (Ed.) The Philosophy of Biology: A Companion for Educators. Dordrecht: Springer, 653685.
Gannett, L. (2014). “The Human Genome Project,” The Stanford Encyclopedia of Philosophy (Winter 2014 Edition), Zalta, E. N. (Ed.)
Gelman, S. A. (2003). The Essential Child: Origins of Essentialism in Everyday Thought. Oxford: Oxford University Press.
Gelman, S. A. (2004). Psychological essentialism in children. TRENDS in Cognitive Sciences, 8(9), 404409.
Gericke, N., Hagberg, M., Carvalho Santos, V., Joaquim, L. M., & El-Hani, C. (2014). Conceptual variation or incoherence? Textbook discourse on genes in six countries. Science & Education, 23(2), 381416.
Gerstein, M. B., Bruce, C., Rozowsky, J. S. et al. (2007). What is a gene, post-ENCODE? History and updated definition. Genome Research, 17(6), 669681.
Giardine, B., Borg, J., Higgs, D. R. et al. (2011). Systematic documentation and analysis of human genetic variation in hemoglobinopathies using the microattribution approach. Nature Genetics, 43(4), 295301.
Giardine, B., Borg, J., Viennas, E. et al. (2014). Updates of the HbVar database of human hemoglobin variants and thalassemia mutations. Nucleic Acids Research, 42(D1), D1063D1069.
Gibson, G. (2012). Rare and common variants: twenty arguments. Nature Reviews Genetics, 13(2), 135145.
Giere, R. N. (2006) Scientific Perspectivism. Chicago and London: University of Chicago Press.
Gigerenzer, G. (2002). Calculated Risks: How to Know When Numbers Deceive You. New York: Simon and Schuster.
Gilbert, W. (1978). Why genes in pieces? Nature, 271, 501.
Gilbert, W. (1992). A vision of the grail. In Kevles, D. J., & Hood, L. (Eds.) The Code of Codes: Scientific and Social Issues in the Human Genome Project. Cambridge MA: Harvard University Press, 8397.
Gilbert, W., & Muller-Hill, B. (1966). Isolation of the lac repressor. Proceedings of the National Academy of Sciences, 56(6), 18911898.
Gill, P., Jeffreys, A. J., & Werrett, D. J. (1985). Forensic application of DNA “fingerprints.” Nature, 318(6046), 577579.
Gillham, N. W. (2001). A Life of Sir Francis Galton: From African Explorations to the Birth of Eugenics. Oxford: Oxford University Press.
Gladwell, M. (2008). Outliers: The Story of Success. New York: Little, Brown and Company.
Gliboff, S. (1998). Evolution, revolution, and reform in Vienna: Franz Unger’s ideas on descent and their post-1848 reception. Journal of the History of Biology, 31(2), 179209.
Gliboff, S. (2013). The many sides of Gregor Mendel. In Harman, O., & Dietrich, M. R. (Eds.) Outsider Scientists: Routes to Innovation in Biology. Chicago: University of Chicago Press.
Godfrey-Smith, P. (2014). Philosophy of Biology. Princeton: Princeton University Press.
Goding, C. R., Pei, D., & Lu, X. (2014). Cancer: pathological nuclear reprogramming?. Nature Reviews Cancer, 14(8), 568573.
Gofman, J. W., Delalla, O., Glazier, F., et al. (1955). The serum lipoprotein transport system in health, metabolic disorders, atherosclerosis and coronary heart disease. Plasma, 2, 413484; Reprinted as Gofman, J. W., Delalla, O., Glazier, F., et al. (2007). The serum lipoprotein transport system in health, metabolic disorders, atherosclerosis and coronary heart disease. Journal of Clinical Lipidology, 1(2), 104141.
Gofman, J. W., Lindgren, F., Elliott, H., et al. (1950). The role of lipids and lipoproteins in atherosclerosis. Science, 111, 166171.
Goldsmith, L., Jackson, L., O’Connor, A., & Skirton, H. (2012). Direct-to-consumer genomic testing: systematic review of the literature on user perspectives. European Journal of Human Genetics, 8, 811816.
Goldstein, J. L., & Brown, M. S. (2015). A century of cholesterol and coronaries: from plaques to genes to statins. Cell, 161(1), 161172.
Gott, J. M., & Emeson, R. B. (2000). Functions and mechanisms of RNA editing. Annual Review of Genetics, 34(1), 499531.
Gould, S. J. (1996). The Mismeasure of Man (Revised and Expanded Edition). New York & London: W.W. Norton & Company.
Gould, W. A., & Heine, S. J. (2012). Implicit essentialism: genetic concepts are implicitly associated with fate concepts. PLoS ONE, 7(6), e38176. doi:10.1371/journal.pone.0038176.
Graur, D., Zheng, Y., & Azevedo, R. B. (2015). An evolutionary classification of genomic function. Genome Biology and Evolution, 7(3), 642645.
Graur, D., Zheng, Y., Price, N. et al. (2013). On the immortality of television sets: “function” in the human genome according to the evolution-free gospel of ENCODE. Genome Biology and Evolution, 5(3), 578590.
Green, R.C., & Farahany, N.A. (2014) The FDA is overcautious on consumer genomics. Nature, 505, 286287.
Greenman, C., Stephens, P., Smith, R. et al. (2007). Patterns of somatic mutation in human cancer genomes. Nature, 446(7132), 153158.
Griffiths, P., & Stotz, K. (2013). Genetics and Philosophy: An Introduction. Cambridge: Cambridge University Press.
Griffiths, A. J. F., Wessler, S. R., Lewontin, R. C. et al. (2005). An Introduction to Genetic Analysis (8th ed.). New York: WH Freeman & Company.
Gros, F., Hiatt, H., Gilbert, W. et al. (1961). Unstable ribonucleic acid revealed by pulse labelling of Escherichia coli. Nature, 190, 581585.
Gudbjartsson, D. F., Walters, G. B., Thorleifsson, G. et al. (2008). Many sequence variants affecting diversity of adult human height. Nature Genetics, 40(5), 609615.
Guthrie, R., & Susi, A. (1963). A simple phenylalanine method for detecting phenylketonuria in large populations of newborn infants. Pediatrics, 32, 338343.
Guttmacher, A. E., Porteous, M. E., & McInerney, J. D. (2007). Educating health-care professionals about genetics and genomics. Nature Reviews Genetics, 8(2), 151157.
Haga, S., Burke, W., Ginsburg, G., Mills, R., & Agans, R. (2012). Primary care physicians’ knowledge of and experience with pharmacogenomics testing. Clinical Genetics, 82(4), 388394.
Haga, S. B., O’Daniel, J. M., Tindall, G. M. et al. (2012). Survey of genetic counselors and clinical geneticists’ use and attitudes toward pharmacogenetic testing. Clinical Genetics, 82, 115120.
Haldane, J. B. S. (1936). A provisional map of a human chromosome. Nature, 137, 398400.
Haldane, J. B. S. (1938). Blood royal: a study of haemophilia in the royal families of Europe. Modern Quarterly, 1, 129–39.
Haldane, J. B. S. (1939). Blood royal. The Living Age, 2631.
Hall, B. K. (2011). A brief history of the term and concept of epigenetics. In Hallgrímsson, B., & Hall, B. K. (Eds.) Epigenetics: Linking Genotype and Phenotype in Development and Evolution. Berkeley: University of California Press, 913.
Hall, B., Limaye, A., & Kulkarni, A. B. (2009). Overview: generation of gene knockout mice. Current Protocols in Cell Biology, Unit 1912, 11–17.
Hanahan, D., & Weinberg, R. A. (2000). The hallmarks of cancer. Cell, 100(1), 5770.
Hanahan, D., & Weinberg, R. A. (2011). Hallmarks of cancer: the next generation. Cell, 144(5), 646674.
Hand, D. J. (2014). The Improbability Principle: Why Coincidences, Miracles, and Rare Events Happen Day. New York: Scientific American/Farrar, Straus and Giroux.
Harper, J. C., & SenGupta, S. B. (2012). Preimplantation genetic diagnosis: state of the art 2011. Human Genetics, 131(2), 175186.
Hayden, E. C. (2016). Seeing deadly mutations in a new light. Nature, 538, 154157.
Heard, E., & Martienssen, R. A. (2014). Transgenerational epigenetic inheritance: myths and mechanisms. Cell, 157(1), 95109.
Hegreness, M., & Meselson, M. (2007). What did Sutton see?: Thirty years of confusion over the chromosomal basis of Mendelism. Genetics, 176(4), 19391944.
Henikoff, S., Keene, M. A., Fechtel, K., & Fristrom, J. W. (1986). Gene within a gene: nested Drosophila genes encode unrelated proteins on opposite DNA strands. Cell, 44, 3342
Hershey, A. D., & Chase, M. (1952). Independent functions of viral proteins and nucleic acid in growth of bacteriophage. Journal of General Physiology, 36, 3956.
Higgs, D. R., Engel, J. D., & Stamatoyannopoulos, G. (2012). Thalassaemia. The Lancet, 379(9813), 373383.
Hill, R. E., & Lettice, L. A. (2013). Alterations to the remote control of Shh gene expression cause congenital abnormalities. Philosphical Transactions of the Royal Society Part B, 368, 20120357.
Hoagland, M. B., Stephenson, M. L., Scott, J. F., Hecht, L. I., & Zamecnik, P. C. (1958). A soluble ribonucleic acid intermediate in protein synthesis. Journal of Biological Chemistry, 231, 241257.
Hochedlinger, K., & Plath, K. (2009). Epigenetic reprogramming and induced pluripotency. Development, 136(4), 509523.
Holmes, F. L. (2000). Seymour Benzer and the definition of the gene. In Beurton, P. J., Falk, R., & Rheinberger, H.-J. (Eds.) The Concept of the Gene in Development and Evolution. Cambridge: Cambridge University Press, 115155.
Holmes, S. J., & Loomis, H. M. (1909). The heredity of eye color and hair color in man. Biological Bulletin, 18(1), 5065.
Holoch, D., & Moazed, D. (2015). RNA-mediated epigenetic regulation of gene 3expression. Nature Reviews Genetics, 16(2), 7184.
Horowitz, N. H. (1948). The one gene-one enzyme hypothesis. Genetics, 33(6), 612613.
Horton, J. D., Cohen, J. C., & Hobbs, H. H. (2009). PCSK9: a convertase that coordinates LDL catabolism. Journal of Lipid Research, 50, S172S177.
Horton, W. A., Hall, J. G., & Hecht, J. T. (2007). Achondroplasia. The Lancet, 370, 162172.
Hubbard, R. (2013). The mismeasure of the gene. In Krimsky, S., & Gruber, J. (Eds). Genetic Explanations: Sense and Nonsense. Cambridge MA: Harvard University Press, 1725.
Hubbard, R., & Wald, E. (1997). Exploding the Gene Myth: How Genetic Information Is Produced and Manipulated by Scientists, Physicians, Employers, Insurance Companies, Educations, and Law Enforcers. Boston: Beacon Press.
Hughes, V. (2014). Epigenetics: the sins of the father. Nature, 507, 2224.
Hurst, C. C. (1908). On the inheritance of eye-colour in man. Proceedings of the Royal Society of London. Series B, Containing Papers of a Biological Character, 80, 8596.
Ingram, V. M. (1956). A specific chemical difference between globins of normal and sickle-cell anemia hemoglobins. Nature, 178(4537), 792794.
Ioannidis, J. P. A. (2005). Why most published research findings are false. PLoS Medicine, 2(8), e124.
Ioannidis, J. P. A. (2016). Why most clinical research is not useful. PLoS Medicine, 13(6), e1002049.
Jablonka, E. (2013). Some problems with genetic horoscopes. In Krimsky, S., & Gruber, J. (Eds.) Genetic Explanations: Sense and Nonsense. Cambridge MA: Harvard University Press, 7680.
Jablonka, E., & Lamb, M. J. (2002). The changing concept of epigenetics. Annals of the New York Academy of Sciences, 981(1), 8296.
Jablonka, E., & Lamb, M. J. (2014). Evolution in Four Dimensions: Genetic, Epigenetic, Behavioral, and Symbolic Variation in the History of Life (2nd ed). Cambridge MA: MIT Press.
Jacob, F., & Monod, J. (1961). Genetic regulatory mechanisms in the synthesis of proteins. Journal of Molecular Biology, 3, 318356.
Jacobs, P. A. (1982). The William Allan Memorial Award address: human population cytogenetics: the first twenty-five years. American Journal of Human Genetics, 34(5), 689.
Jacobs, P. A., Brunton, M., Melville, M. M., Brittain, R. P., & McClemont, W. F. (1965). Aggressive behaviour, mental sub-normality and the XYY male. Nature, 208, 13511352.
Jäger, R. J., Anvret, M., Hall, K., & Scherer, G. (1990). A human XY female with a frameshift mutation in the candidate testis-determining gene SRY. Nature, 348, 452454.
Jamieson, A., & Radick, G. (2013). Putting Mendel in his place: how curriculum reform in genetics and counterfactual history of science can work together. In Kampourakis, K. (Ed.) The Philosophy of Biology: A Companion for Educators. Dordrecht: Springer, 577595.
Jeffreys, A. J., Brookfield, J. F. Y., & Semeonoff, R. (1985). Positive identification of an immigration test-case using human DNA fingerprints. Nature, 317, 818819.
Jeffreys, A. J., Wilson, V., & Thein, S. L. (1985). Individual-specific “fingerprints” of human DNA. Nature, 316(6023), 7679.
Jensen, A. R. (1969). How much can we boost IQ and scholastic achievement? Harvard Educational Review, 39, 1123.
Jensen, A. R. (1970). Race and the genetics of intelligence: a reply to Lewontin. Bulletin of the Atomic Scientists, 26(5), 1723.
Jervis, G. A. (1937). Phenylpyruvic oligophrenia: introductory study of fifty cases of mental deficiency associated with excretion of phenylpyruvic acid. Archives of Neurology and Psychiatry, 38(5), 944.
Jervis, G. A. (1947). Studies on phenylpyruvic oligophrenia: the position of the metabolic error. Journal of Biological Chemistry, 169, 651656.
Jervis, G. A. (1953). Phenylpyruvic oligophrenia deficiency of phenylalanine-oxidizing system. Proceedings of the Society for Experimental Biology and Medicine, 82(3), 514515.
Jobling, M., & Gill, P. (2004). Encoded evidence: DNA in forensic analysis. Nature Reviews Genetics, 5, 739751.
Johannsen, W. (1911). The genotype conception of heredity. American Naturalist, 45 (531), 129159.
Jones, D. S. (2013). The prospects of personalized medicine. In Krimsky, S., & Gruber, J. (Eds.) Genetic Explanations: Sense and Nonsense. Cambridge MA: Harvard University Press, 147170.
Judson, H. F. (1996). The Eighth Day of Creation: The Makers of the Revolution in Biology (Commemorative Edition). New York: Cold Spring Harbor Laboratory Press.
Kalf, R. R., Mihaescu, R., Kundu, S. et al. (2014). Variations in predicted risks in personal genome testing for common complex diseases. Genetics in Medicine, 16(1), 8591.
Kampourakis, K. (2013). Mendel and the path to genetics: portraying science as a social process. Science & Education, 22(2), 293324.
Kampourakis, K. (2014). Understanding Evolution. Cambridge: Cambridge University Press.
Kampourakis, K. (2015). Myth 16: that Gregor Mendel was a lonely pioneer of genetics, being ahead of his time. In Numbers, R. L., & Kampourakis, K. (Eds.) Newton’s Apple and Other Myths about Science. Cambridge MA: Harvard University Press, 129138.
Kampourakis, K. (2016). The “general aspects” conceptualization as a pragmatic and effective means to introducing students to nature of science. Journal of Research in Science Teaching, 53(5), 667682.
Kampourakis, K., Vayena, E., Mitropoulou, C. et al. (2014). Next-generation pharmacogenomics and society: key challenges ahead. EMBO Reports, 15(5), 472476.
Kaplan, J.M. (2000). The Limits and Lies of Human Genetic Research: Dangers for Social Policy. London: Routledge.
Karlin, S., Chen, C., Gentles, A. J., & Cleary, M. (2002). Associations between human disease genes and overlapping gene groups and multiple amino acid runs. Proceedings of the National Academy of Sciencs, 99, 1700817013.
Kay, L. E. (2000). Who Wrote the Book of Life?: A History of the Genetic Code. Stanford: Stanford University Press.
Kayaalp, E., Treacy, E., Waters, P. J. et al. (1997). Human phenylalanine hydroxylase mutations and hyperphenylalaninemia phenotypes: a metanalysis of genotype-phenotype correlations. American Journal of Human Genetics, 61(6), 13091317.
Kayser, M., & deKnijff, P. (2011). Improving human forensics through advances in genetics, genomics and molecular biology. Nature Reviews Genetics, 12, 179192.
Kayser, M., Liu, F., Janssens, A. C. J. et al. (2008). Three genome-wide association studies and a linkage analysis identify HERC2 as a human iris color gene. American Journal of Human Genetics, 82(2), 411423.
Keller, E. F. (1983). A Feeling for the Organism: The Life and Work of Barbara McClintock. New York: Henry Holt.
Keller, E. F. (2000). The Century of the Gene. Cambridge MA: Harvard University Press.
Keller, E. F. (2010). The Mirage of a Space between Nature and Nurture. Duke University Press.
Keller, E. F. (2015). The postgenomic genome. In Stevens, H., & Richardson, S. S. (Eds.) Postgenomics: Perspectives on Biology after the Genome. Durham & London: Duke University Press, 931.
Keren, H., Lev-Maor, G., & Ast, G. (2010). Alternative splicing and evolution: diversification, exon definition and function. Nature Reviews Genetics, 11(5), 345355.
Kevles, D. J. (1995). In the Name of Eugenics: Genetics and the Uses of Human Heredity. Cambridge MA: Harvard University Press.
Keys, A., Kimura, N., Kusukawa, A. et al. (1958). Lessons from serum cholesterol studies in Japan, Hawaii and Los Angeles. Annals of Internal Medicine, 48(1), 8394.
Kioussis, D., Vanin, E., DeLange, T., Flavell, R. A., & Grosveld, F. G. (1983). β-globin gene inactivation by DNA translocation in γ β-thalassaemia. Nature, 306, 662666.
Kirby, D. A. (2000). The new eugenics in cinema: genetic determinism and gene therapy in GATTACA. Science Fiction Studies, 27(2), 193215.
Kirby, D. A. (2004). Extrapolating race in GATTACA: genetic passing, identity, and the science of race. Literature and Medicine, 23( 1), 184200.
Kitcher, P. (1982). Genes. British Journal for the Philosophy of Science, 33, 337359.
Kitcher, P. (1997). The Lives to Come: The Genetic Revolution and Human Possibilities. New York: Touchstone.
Kitcher, P. (2003). Battling the undead: how (and how not) to resist genetic determinism. In Kitcher, P. In Mendel’s Mirror: Philosophical Reflections on Biology. Oxford: Oxford University Press, 283300.
Klitzman, R. L. (2012). Am I My Genes?: Confronting Fate and Family Secrets in the Age of Genetic Testing. Oxford and New York: Oxford University Press.
Knoll, J. H. M., Nicholls, R. D., Magenis, R. E. et al. (1989). Angelman and Prader-Willi syndromes share a common chromosome 15 deletion but differ in parental origin of the deletion. American Journal of Medical Genetics, 32(2), 285290.
Kohler, R. E. (1994). Lords of the Fly: Drosophila Genetics and the Experimental Life. Chicago: University of Chicago Press.
Koller, B. H., Marrack, P., Kappler, J. W., & Smithies, O. (1990). Normal development of mice deficient in β2M, MHC class I proteins, and CD8+ T cells. Science, 248, 12271230.
Kong, A., Frigge, M. L., Masson, G. et al. (2012). Rate of de novo mutations and the importance of father’s age to disease risk. Nature, 488(7412), 471475.
Kornberg, R. D. (1974). Chromatin structure: a repeating unit of histones and DNA. Science, 184, 868871.
Kornberg, R. D., & Thomas, J. O. (1974). Chromatin structure; oligomers of the histones. Science, 184, 865868.
Kouzarides, T. (2007). Chromatin modifications and their function. Cell, 128(4), 693705.
Krimsky, S., & Gruber, J. (Eds.) (2013). Genetic Explanations: Sense and Nonsense. Cambridge MA: Harvard University Press.
Krimsky, S., & Simoncelli, T. (2011). Genetic Justice: DNA Data Banks, Criminal Investigations, and Civil Liberties. New York: Columbia University Press.
Kruglyak, L. (2008). The road to genome-wide association studies. Nature Reviews Genetics, 9(4), 314318.
Kurian, A. W., Hare, E. E., Mills, M. A. et al. (2014). Clinical evaluation of a multiple-gene sequencing panel for hereditary cancer risk assessment. Journal of Clinical Oncology, 32(19), 20012009.
Lachance, C. R., Erby, L. A., Ford, B. M., Allen, V. C., & Kaphingst, K. A. (2010). Informational content, literacy demands, and usability of websites offering health-related genetic tests directly to consumers. Genetics in Medicine, 12(5), 304312.
Lander, E. S. (2011). Initial impact of the sequencing of the human genome. Nature, 470(7333), 187197.
Lander, E. S. (2015). Cutting the Gordian helix–regulating genomic testing in the era of precision medicine. New England Journal of Medicine, 372(13), 11851186.
Lander, E. S., Linton, L. M., Birren, B. et al. (2001). Initial sequencing and analysis of the human genome. Nature, 409(6822), 860921.
Lannoy, N., & Hermans, C. (2010). The “royal disease”: haemophilia A or B? A haematological mystery is finally solved. Haemophilia, 16(6), 843847.
Lee, J. T., & Bartolomei, M. S. (2013). X-inactivation, imprinting, and long noncoding RNAs in health and disease. Cell, 152(6), 13081323.
Leighton, J. W., Valverde, K., & Bernhardt, B. A. (2012). The general public’s understanding and perception of direct-to-consumer genetic test results. Public Health Genomics. 15(1), 1121.
Lek, M., Karczewski, K., Minikel, E., Samocha, K., Banks, E., Fennell, T., et al. (2016). Analysis of protein-coding genetic variation in 60,706 humans. Nature, 536, 285291.
Lettice, L. A., Horikoshi, T., Heaney, S. J. H. et al. (2002). Disruption of a long-range cis-acting regulator for Shh causes preaxial polydactyly. Proceedings of the National Academy of Sciences, 99, 75487553.
Lettre, G., Jackson, A. U., Gieger, C. et al. (2008). Identification of ten loci associated with height highlights new biological pathways in human growth. Nature Genetics, 40(5), 584591.
Levins, R., & Lewontin, R. C. (1985). The Dialectical Biologist. Cambridge MA: Harvard University Press.
Levy, S., Sutton, G., Ng, P. C. et al. (2007). The diploid genome sequence of an individual human. PLoS Biology 5(10), e254.
Lewin, B. (1980). Alternatives for splicing: recognizing the ends of introns. Cell, 22, 324326.
Lewis, J. D., Meehan, R. R., Henzel, W. J. et al. (1992). Purification, sequence, and cellular localization of a novel chromosomal protein that binds to methylated DNA. Cell, 69(6), 905914.
Lewis, J., Leach, J., & Wood-Robinson, C. (2000). All in the genes? – young people’s understanding of the nature of genes. Journal of Biological Education, 34(2), 7479.
Lewontin, R. C. (1970a). Further remarks on race and the genetics of intelligence. Bulletin of the Atomic Scientists, 26(5), 2325.
Lewontin, R. C. (1970b). Race and intelligence. Bulletin of Atomic Scientists, 26, 28.
Lewontin, R. C. (1974). The analysis of variance and the analysis of causes. American Journal of Human Genetics, 26, 400411.
Lewontin, R. C. (1993). The Doctrine of DNA: Biology as Ideology. London: Penguin.
Lewontin, R. C. (2000). The Triple Helix: Gene, Organism, and Environment. Cambridge MA: Harvard University Press.
Ley, B. L., Jankowski, N., & Brewer, P. R. (2012) Investigating CSI: portrayals of DNA testing on a forensic crime show and their potential effects. Public Understanding of Science, 21 (1), 5167.
Libby, P., Ridker, P. M., & Hansson, G. K. (2011). Progress and challenges in translating the biology of atherosclerosis. Nature, 473, 317325.
Lichtenstein, P., Holm, N. V., Verkasalo, P. K. et al. (2000). Environmental and heritable factors in the causation of cancer – analyses of cohorts of twins from Sweden, Denmark, and Finland. New England Journal of Medicine, 343(2), 7885.
Lindee, S. (2005) Moments of Truth in Genetic Medicine. Baltimore: Johns Hopkins University Press.
Link, K. P. (1959). The discovery of dicumarol and its sequels. Circulation, 19(1), 97107.
Lipkin, S. M., & Luoma, J. (2016). The Age of Genomes: Tales from the Front Lines of Genetic Medicine. Boston: Beacon Press.
López Beltrán, C. (2004). In the cradle of heredity: French physicians and l’hérédité naturelle in the early nineteenth century. Journal of the History of Biology, 37, 3972.
López-Beltrán, C. (2007). The medical origins of heredity. In Müller-Wille, S. & Rheinberger, H. (Eds.) Heredity Produced: At the Crossroad of Biology, Politics and Culture, 1500 to 1870. Cambridge MA: MIT Press.
Loukopoulos, D. (2014). Milestones in the history of thalassemia and sickle cell disease. Thalassemia Reports, 4(3), 2932.
Lupski, J. R. (2013). Genome mosaicism: one human, multiple genomes. Science, 341(6144), 358359.
Lynch, K. W. (2004). Consequences of regulated pre-mRNA splicing in the immune system. Nature Reviews Immunology, 4(12), 931940.
Lynch, M., Cole, S. A., McNally, R., & Jordan, K. (2008). Truth Machine: The Contentious History of DNA Fingerprinting. Chicago: University of Chicago Press.
MacArthur, D. G., Balasubramanian, S., Frankish, A. et al. (2012). A systematic survey of loss-of-function variants in human protein-coding genes. Science, 335, 823828.
MacArthur, D. G., Manolio, T. A., Dimmock, D. P. et al. (2014). Guidelines for investigating causality of sequence variants in human disease. Nature, 508(7497), 469476.
Maienschein, J. (2012). “Epigenesis and Preformationism.The Stanford Encyclopedia of Philosophy (Spring 2012 Edition), Edward N. Zalta, (Ed.),
Maienschein, J. (2014). Embryos under the Microscope: The Diverging Meanings of Life. Cambridge MA: Harvard University Press.
Mak, T. W., Penninger, J. M., & Ohashi, P. S. (2001). Knockout mice: a paradigm shift in modern immunology. Nature Reviews Immunology, 1(1), 1119.
Makalowska, I., Lin, C. F., & Makalowski, W. (2005). Overlapping genes in vertebrate genomes. Computational Biology and Chemistry, 29(1), 112.
Margarit, E., Coll, M. D., Oliva, R. et al. (2000). SRY gene transferred to the long arm of the X chromosome in a Y-positive XX true hermaphrodite. American Journal of Medical Genetics, 90(1), 2528.
Marks, J. (2008). The construction of Mendel’s laws. Evolutionary Anthropology, 17, 250253.
Mathews, D. J. H., Kalfoglou, A., & Hudson, K. (2005). Geneticists’ views on science policy formation and public outreach. American Journal of Medical Genetics, 137A, 161169.
Mattick, J. S., & Dinger, M. E. (2013). The extent of functionality in the human genome. HUGO Journal, 7(1), 2.
McCarthy, M. I., Abecasis, G. R., Cardon, L. R. et al. (2008). Genome-wide association studies for complex traits: consensus, uncertainty and challenges. Nature Reviews Genetics, 9(5), 356369.
McClintock, B. (1953). Induction of instability at selected loci in maize. Genetics, 38(6), 579.
McClintock, B. (1956). Controlling elements and the gene. Cold Spring Harbor Symposia on Quantitative Biology, 21, 197216.
McClintock, B. (1961). Some parallels between gene control systems in maize and in bacteria. American Naturalist, 95 (884), 265277.
Meli, C., Garozzo, R., Mollica, F., Romano, V., & Cali, F. (1998). A20-Different clinical manifestations in siblings with identical phenylalanine hydroxylase gene mutations. Journal of Inherited Metabolic Disease, 21(2), 10.
Mendel, G. (1866). Versuche über Pflanzen-Hybriden, translation by Hall, Kersten and Müller-Wille, Staffan, available at
Meselson, M., & Stahl, F. W. (1958). The replication of DNA in Escherichia coli. Proceedings of the National Academy of Sciences, 44, 671682.
Miko, I. (2008). Gregor Mendel and the principles of inheritance. Nature Education, 1(1), 134.
Miller, K. F., Smith, C. M., Zhu, J., & Zhang, H. (1995). Preschool origins of cross-national differences in mathematical competence: the role of number-naming systems. Psychological Science, 6(1), 5660.
Miller, K. R., & Levine, J. S. (2010). Miller & Levine Biology. USA: Pearson Education.
Minikel, E. V., Vallabh, S. M., Lek, M., Estrada, K., Samocha, K. E., Sathirapongsasuti, J. F., et al. (2016). Quantifying prion disease penetrance using large population control cohorts. Science Translational Medicine, 8(322), 322329.
Mills Shaw, K. R., Van Horne, K., Zhang, H., & Boughman, J. (2008). Essay contest reveals misconceptions of high school students in genetics content. Genetics, 178(3), 11571168.
Moore, D. S. (2002). The Dependent Gene: The Fallacy of “Nature vs. Nurture.” New York: Times Books/Henry Holt & Co.
Moore, D. S. (2008). Espousing interactions and fielding reactions: addressing laypeople’s beliefs about genetic determinism. Philosophical Psychology, 21(3), 331348.
Moore, D. S. (2013a). Big B, little b: myth #1 is that Mendelian genes actually exist. In Krimsky, S., & Gruber, J. (Eds.) Genetic Explanations: Sense and Nonsense. Cambridge MA: Harvard University Press, 4350.
Moore, D. S. (2013b). Current thinking about nature and nurture. In Kampourakis, K. (Ed.) The Philosophy of Biology: A Companion for Educators. Dordrecht: Springer, 629652.
Moore, D. S. (2015). The Developing Genome: An Introduction to Behavioral Epigenetics. Oxford: Oxford University Press.
Morange, M. (1998). A History of Molecular Biology. Cambridge MA: Harvard University Press.
Morange, M. (2002). The Misunderstood Gene. Cambridge MA: Harvard University Press.
Morell, V. (1993). Evidence found for a possible aggression gene. Science, 260(5115), 17221723.
Morgan, T. H. (1913). Factors and unit characters in Mendelian heredity. American Naturalist, 47, 516.
Morgan, T. H. (1917). The theory of the gene. American Naturalist, 51, 513544.
Morgan, T. H. (1926). The Theory of the Gene. New Haven: Yale University Press.
Morgan, T. H., Sturtevant, A. H., Muller, H. J., & Bridges, C. B. (1915). The Mechanism of Mendelian Heredity. New York: Henry Holt and Company.
Morin-Chassé, A. (2014). Public (mis)understanding of news about behavioral genetics research: a survey experiment. BioScience, 64(12), 11701177.
Morris, C., Shen, A., Pierce, K., & Beckwith, J. (2007). Deconstructing violence. GeneWatch, 20(2), 39.
Morris, K. V., & Mattick, J. S. (2014). The rise of regulatory RNA. Nature Reviews Genetics, 15(6), 423.
Moss, L. (2003). What Genes Can’t Do. Cambridge MA: MIT Press.
Muela, F. J., & Abril, A. M. (2014) Genetics and cinema: personal misconceptions that constitute obstacles to learning. International Journal of Science Education, Part B: Communication and Public Engagement, 4(3), 260280.
Müller, C. (1938). Xanthomata, hypercholesterolemia, angina pectoris. Acta Medica Scandinavica, 95(S89), 7584.
Muller, H. J. (1927). Artificial transmutation of the gene. Science, 46, 8487.
Müller-Wille, S., & Rheinberger, H-J. (2012). A Cultural History of Heredity. Chicago: University of Chicago Press.
Mukherjee, S. (2016). The Gene: An Intimate History. New York: Scribner.
Murray, A. B. V., Carson, M. J., Morris, C. A., & Beckwith, J. (2010). Illusions of scientific legitimacy: misrepresented science in the direct-to-consumer genetic testing marketplace. Trends in Genetics, 26, 459461.
Nägeli von, C. (1898/1884). A Mechanico- Physiological Theory of Organic Evolution. Chicago: Open Court Publishing Co.
Neel, J. V. (1949). The inheritance of sickle cell anemia. Science, 110, 6466.
Nelkin, D. (1995). Selling Science: How the Press Covers Science and Technology (Revised Edition). New York: W.H. Freeman & Company.
Nelkin, D., & Lindee, S. M. (2004). The DNA Mystique: The Gene as a Cultural Icon. Ann Arbor: University of Michigan Press.
Nersessian, N. J. (2008). Creating Scientific Concepts. Cambridge MA: MIT Press.
Neumann-Held, E. M. (2006). Genes – causes – codes: deciphering DNA’s ontological privilege. In Neumann-Held, E. M., & Rehmann-Sutter, C. (Eds.) Genes in Development: Re-Reading the Molecular Paradigm. Durham and London: Duke University Press, 238271.
Neumann-Held, E. M., & Rehmann-Sutter, C. (Eds.) (2006). Genes in Development: Re-Reading the Molecular Paradigm. Durham and London: Duke University Press.
Ng, P. C., Murray, S. S., Levy, S., & Venter, J. C. (2009). An agenda for personalized medicine. Nature, 461(7265), 724726.
Ng, S. B., Bigham, A. W., Buckingham, K. J. et al. (2010). Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome. Nature Genetics, 42(9), 790793.
Nicholls, R. D., Knoll, J. H., Butler, M. G., Karam, S., & Lalande, M. (1989). Genetic imprinting suggested by maternal heterodisomy in non-deletion Prader-Willi syndrome. Nature, 342(6247), 281285.
Nilsen, T. W., & Graveley, B. R. (2010). Expansion of the eukaryotic proteome by alternative splicing. Nature, 463 (7280), 457463.
Nirenberg, M., Leder, P., Bernfield, M. et al. (1965). RNA codewords and protein synthesis, VII: on the general nature of the RNA code. Proceedings of the National Academy of Sciences, 53, 11611168.
Nirenberg, M. W., & Matthaei, H. J. (1961). The dependence of cell-free protein synthesis in E. coli upon naturally occurring or synthetic polyribonucleotides. Proceedings of the National Academy of Sciences, 47 (10), 15881602.
Nishikura, K. (2016). A-to-I editing of coding and non-coding RNAs by ADARs. Nature Reviews Molecular Cell Biology, 17, 8396.
Noble, D. (2006). The Music of Life: Biology beyond Genes. Oxford: Oxford University Press.
Nowicki, S. (2012). Holt McDougal Biology. Holt McDougal.
Nuinoon, M., Makarasara, W., Mushiroda, T. et al. (2010). A genome-wide association identified the common genetic variants influence disease severity in β0-thalassemia/hemoglobin E. Human Genetics, 127(3), 303314.
Núñez-Farfán, J., & Schlichting, C. D. (2001). Evolution in changing environments: the “synthetic” work of Clausen, Keck, and Hiesey. Quarterly Review of Biology, 76(4), 433457.
Ogilvie, M. B., & Choquette, C. J. (1981). Nettie Maria Stevens (1861–1912): her life and contributions to cytogenetics. Proceedings of the American Philosophical Society, 125(4), 292311.
Ohno, S. (1972). So much “junk” DNA in our genome. Brookhaven Symposium on Biology, 23, 366370.
Olby, R. (1970). Francis Crick, DNA, and the central dogma. Daedalus, 99(4), 938987.
Olby, R. (1994/1974). The Path to the Double Helix. New York: Dover.
Olby, R. (2003). Quiet debut for the double helix. Nature, 421, 402405.
Olby, R. (2009). Francis Crick, Hunter of Life’s Secrets. New York: Cold Spring Harbor Laboratory Press.
Olby, R. C. (1966). Origins of Mendelism. New York: Schocken Books.
Olby, R. C. (1979). Mendel no Mendelian? History of Science, 17, 5372.
Olby, R. C. (1985). Origins of Mendelism (2nd ed.). Chicago: University of Chicago Press.
Olby, R. C. (2000). Horticulture: the font for the baptism of Genetics. Nature Reviews Genetics, 1, 6570.
Old, J. M. (2003). Screening and genetic diagnosis of haemoglobin disorders. Blood Reviews, 17(1), 4353.
Olesko, K. M. (2015). Myth 25: that science has been largely a solitary enterprise. In Numbers, R. L., & Kampourakis, K. (Eds.) Newton’s Apple and Other Myths about Science. Cambridge MA: Harvard University Press, 202209.
Ollikainen, M., Smith, K. R., Joo, E. J. H. et al. (2010). DNA methylation analysis of multiple tissues from newborn twins reveals both genetic and intrauterine components to variation in the human neonatal epigenome. Human Molecular Genetics, 19(21), 41764188.
Orel, V. (1984) Mendel. New York: Oxford University Press.
Orel, V., & Wood, R. J. (2000). Essence and origin of Mendel’s discovery. Comptes Rendus de l’Académie des Sciences, Series III Sciences de la Vie, 323, 10371041.
Pace, L. E., & Keating, N. L. (2014). A systematic assessment of benefits and risks to guide breast cancer screening decisions. Journal of the American Medical Association, 311(13), 13271335.
Palade, G. E. (1955). A small particulate component of the cytoplasm. Journal of Biophysical and Biochemical Cytology, 1, 5968.
Palazzo, A. F., & Gregory, T. R. (2014) The case for junk DNA. PLoS Genetics, 10(5), e1004351.
Pan, Q., Shai, O., Lee, L. J., Frey, B. J., Blencowe, B. J. (2008). Deep surveying of alternative splicing complexity in the human transcriptome by high-throughput sequencing. Nature Genetics, 40, 14131415.
Parrington, J. (2015). The Deeper Genome: Why There Is More to the Human Genome than Meets the Eye. Oxford: Oxford University Press.
Paul, D. B. (1995). Controlling Human Heredity: 1865 to the Present. New York: Humanity Books.
Paul, D. B. (1998). The Politics of Heredity: Essays on Eugenics, Biomedicine, and the Nature-Nurture Debate. New York: SUNY Press.
Paul, D. B. (2014). What was wrong with eugenics? Conflicting narratives and disputed interpretations. Science & Education, 23(2), 259271.
Paul, D. B., & Brosco, J. P. (2013). The PKU Paradox: A Short History of a Genetic Disease. Baltimore: Johns Hopkins Universtiy Press.
Pauling, L., Itano, H. A., Singer, S. J., & Wells, I. C. (1949). Sickle cell anemia, a molecular disease. Science, 110 (2865), 543548.
Pennisi, E. (2001). The human genome. Science, 291(5507), 11771180.
Penrose, L. S. (1935). Inheritance of phenylpyruvic amentia (phenylketonuria). Lancet, 2, 192194.
Penrose, L. S., & Quastel, J. H. (1937). Metabolic studies in phenylketonuria. Biochemical Journal, 31, 266271.
Peters, J. (2014). The role of genomic imprinting in biology and disease: an expanding view. Nature Reviews Genetics, 15(8), 517530.
Pigliucci, M. (2001). Phenotypic Plasticity: Beyond Nature and Nurture. Baltimore: Johns Hopkins University Press.
Pigliucci, M. (2005). Evolution of phenotypic plasticity: where are we going now?. Trends in Ecology & Evolution, 20(9), 481486.
Pontecorvo, G. (1952). The genetic formulation of gene structure and action. Advances in Enzymology, 13, 121149.
Prader, A., Labhart, A., & Willi, H. (1956). A syndrome with adiposity, stunted growth, cryptocordia and oligophrenia after myotonia entitled in newborn. Schweiz Med Wochenschr, 86, 12601261.
Preußer, C., & Bindereif, A. (2013). Exo-endo trans splicing: a new way to link. Cell Research, 23(9), 1071.
Ptashne, M. (1967). Isolation of the λ phage repressor. Proceedings of the National Academy of Sciences, 57(2), 306313.
Qiu, J. (2006). Epigenetics: unfinished symphony. Nature, 441(7090), 143145.
Reece, J. B., Urry, L. A., Cain, M. L. et al. (2012). Campbell Biology (9th ed.). New York: Pearson Education.
Reid, J. B., & Ross, J. J. (2011). Mendel’s genes: toward a full molecular characterization. Genetics, 189(1), 310.
Renwick, C. (2011). From political economy to sociology: Francis Galton and the social-scientific origins of eugenics. British Journal for the History of Science, 44(162 Pt 3), 343369.
Resch, B. (Ed.). (2011). BSCS Biology: A Human Approach (4th ed.). Dubuque IA: Kendall Hunt.
Retzbach, J., Retzbach, A., Maier, M., Otto, L., & Rahnke, M. (2013). Effects of repeated exposure to science TV shows on beliefs about scientific evidence and interest in science. Journal of Media Psychology, 25(1), 313.
Reydon, T. R., Kampourakis, K., & Patrinos, G. P. (2012). Genetics, genomics and society: the responsibilities of scientists for science communication and education. Personalized Medicine, 9(6), 633643.
Rheinberger, H. J., & Müller-Wille, S. (in press) The Gene: From Genetics to Postgenomics. Chicago: University of Chicago Press.
Rheinberger, H. J., Müller-Wille, S., & Meunier, R. (2015). “Gene.” The Stanford Encyclopedia of Philosophy (Spring 2015 Edition), Zalta, Edward N. (Ed.),
Richards, R. A. (2010). The Species Problem: A Philosophical Analysis. Cambridge: Cambridge University Press.
Roberts, H. F. (1929) Plant Hybridisation Before Mendel. Princeton: Princeton University Press.
Roll-Hansen, N. (2014). Commentary: Wilhelm Johannsen and the problem of heredity at the turn of the 19th century. International Journal of Epidemiology, 43(4), 10071013.
Rollin, B. E. (2006). Science and Ethics. Cambridge: Cambridge University Press.
Rose, H., & Rose, S. (2012). Genes, Cells and Brains: The Promethean Promises of the New Biology. London & New York: Verso.
Rothbart, S. B., & Strahl, B. D. (2014). Interpreting the language of histone and DNA modifications. Biochimica et Biophysica Acta (BBA)-Gene Regulatory Mechanisms, 1839(8), 627643.
Sabol, S. Z., Hu, S., & Hamer, D. (1998). A functional polymorphism in the monoamine oxidase A gene promoter. Human Genetics, 103(3), 273279.
Sadava, D., Hillis, D. M., Heller, H. C., & Berenbaum, M. (2011). Life: The Science of Biology. Gordonsville: WH Freeman Publishers.
Sakai., D., & Trainor, P. A. (2009) Treacher Collins syndrome: unmasking the role of Tcof1/treacle. The International Journal of Biochemistry & Cell Biology, 41(6), 12291232.
Sapp, J. (2003). Genesis: The Evolution of Biology. Oxford: Oxford University Press.
Sarkar, S. (2006). From genes as determinants to DNA as resource: historical notes on development and genetics. In Neumann-Held, E. M., & Rehmann-Sutter, C. (Eds.) Genes in Development: Re-Reading the Molecular Paradigm. Durham and London: Duke University Press, 7795.
Sato, Y., Morita, R., Nishimura, M., Yamaguchi, H., & Kusaba, M. (2007). Mendel’s green cotyledon gene encodes a positive regulator of the chlorophyll-degrading pathway. Proceedings of the National Academy of Sciences, 104(35), 1416914174.
Schmidt, J. L., Castellanos-Brown, K., Childress, S. et al. (2012). The impact of false-positive newborn screening results on families: a qualitative study. Genetics in Medicine, 14(1), 7680.
Schmucker, D., Clemens, J. C., Shu, H., et al. (2000). Drosophila Dscam is an axon guidance receptor exhibiting extraordinary molecular diversity. Cell, 101, 671684.
Schoenfeld, J. D., & Ioannidis, J. P. (2013). Is everything we eat associated with cancer? A systematic cookbook review. American Journal of Clinical Nutrition, 97(1), 127134.
Schulte, J., Rothaus, C. S., Adler, J. N., & Phimister, E. G. (2014). Screening an asymptomatic person for genetic risk – polling results. New England Journal of Medicine, 371(20), 24422445.
Schwartz, S. (2000). The differential concept of the gene: past and present. In Beurton, P. J., Falk, R. & Rheinberger, H. J. (Eds.) The Concept of the Gene in Development and Evolution. Cambridge: Cambridge University Press, 2639.
Schweitzer, N. J., & Saks, M. J. (2007). The CSI Effect: popular fiction about forensic science affects the public’s expectations about real forensic science. Jurimetrics, 47, 357364.
Scotti, M., & Swanson, M. S. (2016). RNA mis-splicing in disease. Nature Reviews Genetics, 17(1): 19–32.
Scriver, C. R. (2007). The PAH gene, phenylketonuria, and a paradigm shift. Human Mutation, 28(9), 831845.
Scriver, C. R., & Waters, P. J. (1999). Monogenic traits are not simple: lessons from phenylketonuria. Trends in Genetics, 15(7), 267272.
Seisenberger, S., Peat, J. R., Hore, T. A. et al. (2013). Reprogramming DNA methylation in the mammalian life cycle: building and breaking epigenetic barriers. Philosophical Transactions of the Royal Society B: Biological Sciences 368(1609), 20110330.
Sekido, R., & Lovell-Badge, R. (2009). Sex determination and SRY: down to a wink and a nudge? Trends in Genetics, 25(1), 1929.
Sermon, K., Van Steirteghem, A., & Liebaers, I. (2004). Preimplantation genetic diagnosis. The Lancet, 363(9421), 16331641.
Shaheen, R., Faqeih, E., Ansari, S. et al. (2014). Genomic analysis of primordial dwarfism reveals novel disease genes. Genome Research, 24(2), 291299.
Sharp, P. A. (2005). The discovery of split genes and RNA splicing. Trends in Biochemical Sciences, 30(6), 279280.
Shull, G. H. (1935). The word “allele.” Science, 82 (2115), 3738.
Slack, J. (2014). Genes: A Very Short Introduction. Oxford: Oxford University Press.
Slatkin, M. (2008). Linkage disequilibrium – understanding the evolutionary past and mapping the medical future. Nature Reviews Genetics, 9(6), 477485.
Smith, I., & Lloyd, J. (1974). Atypical phenylketonuria accompanied by a severe progressive neurological illness unresponsive to dietary treatment. Archives of Disease in Childhood, 49(3), 245.
Smith, I., Clayton, B. E., & Wolff, O. H. (1975). New variant of phenylketonuria with progressive neurological illness unresponsive to phenylalanine restriction. The Lancet, 305(7916), 11081111.
Snyder, M. (2016). Genomics and Personalized Medicine: What Everyone Needs to Know. Oxford: Oxford University Press.
Snyder, M., & Gerstein, M. (2003). Defining genes in the genomics era. Science, 300, 258260.
Sober, E., & Lewontin, R. C. (1982). Artifact, cause and genic selection. Philosophy of Science, 49(2),157180.
Söll, D., Ohtsuka, E., Jones, D. S., et al. (1965). Studies on polynucleotides, XLIX. Stimulation of the binding of aminoacyl-sRNA’s to ribosomes by ribotrinucleotides and a survey of codon assignments for 20 amino acids. Proceedings of the National Academy of Sciences, 54, 13781385.
Solovieff, N., Cotsapas, C., Lee, P. H., Purcell, S. M., & Smoller, J. W. (2013). Pleiotropy in complex traits: challenges and strategies. Nature Reviews Genetics, 14(7), 483495.
Sommer, B., Köhler, M., Sprengel, R., & Seeburg, P. H. (1991). RNA editing in brain controls a determinant of ion flow in glutamate-gated channels. Cell, 67(1), 1119.
Sonnenschein, C., & Soto, A. M. (2013). Cancer genes: the vestigial remains of a fallen theory. In Krimsky, S., & Gruber, J. (Eds.) Genetic Explanations: Sense and Nonsense. Cambridge MA: Harvard University Press, 8193.
Spencer, H. (1864). Principles of Biology. London and Edinburgh: Williams and Norgate.
Stamatoyannopoulos, J. A. (2012). What does our genome encode? Genome Research, 22, 16021611.
Stanek, E. J., Sanders, C. L., Johansen Taber, K. A. et al. (2012). Adoption of pharmacogenomic testing by US physicians: results of a nationwide survey. Clinical Pharmacology & Therapy, 91(3), 450458.
Stevens, H., & Richardson, S. S. (Eds.) (2015a). Beyond the genome. In Stevens, H., & Richardson, S. S. (Eds.) Postgenomics: Perspectives on Biology after the Genome. Durham and London: Duke University Press, 18.
Stevens, H., & Richardson, S. S. (2015b). Postgenomics: Perspectives on Biology after the Genome. Durham & London: Duke University Press.
Stotz, K., Griffiths, P. E., & Knight, R. (2004). How biologists conceptualize genes: an empirical study. Studies in History and Philosophy of Science Part C: Studies in History and Philosophy of Biological and Biomedical Sciences 35(4), 647673.
Strasser, B. J. (1999). Sickle cell anemia, a molecular disease. Science, 286 (5444), 14881490
Strasser, B. J. (2003). Who cares about the double helix? Nature, 422, 803804.
Strasser, B. J. (2006). A world in one dimension: Linus Pauling, Francis Crick and the central dogma of molecular biology. History and Philosophy of the Life Sciences, 28, 491512.
Strasser, B. J. (2015). Myth 22: that Linus Pauling’s discovery of the molecular basis of sickle-cell anemia revolutionized medical practice. In Numbers, R. L. & Kampourakis, K. (Eds.) Newton’s Apple and Other Myths about Science. Cambridge MA: Harvard University Press, 178185.
Stratton, M. R., Campbell, P. J., & Futreal, P. A. (2009). The cancer genome. Nature, 458(7239), 719724.
Sturm, R. A., & Frudakis, T. N. (2004). Eye colour: portals into pigmentation genes and ancestry. TRENDS in Genetics, 20(8), 327332.
Sturm, R. A., & Larsson, M. (2009). Genetics of human iris colour and patterns. Pigment Cell & Melanoma Research, 22(5), 544562.
Sturm, R. A., Duffy, D. L., Zhao, Z. Z. et al. (2008). A single SNP in an evolutionary conserved region within intron 86 of the HERC2 gene determines human blue-brown eye color. American Journal of Human Genetics, 82, 424431.
Sturtevant, A. H. (1913). The linear arrangement of six sex-linked factors in Drosophila, as shown by their mode of association. Journal of Experimental Zoology, 14, 4359.
Sturtevant, A. H. (2001/1965). A History of Genetics. New York: Electronic Scholarly Publishing project & Cold Spring Harbor Laboratory Press (available at
Sulem, P., Gudbjartsson, D. F., Stacey, S. N. et al. (2007). Genetic determinants of hair, eye and skin pigmentation in Europeans. Nature Genetics 39(12), 14431452.
Sulem, P., Helgason, H., Oddson, A. et al. (2015). Identification of a large set of rare complete human knockouts. Nature Genetics, 47(5), 448452.
Sullivan, L. G. (1995). Myth, metaphor and hypothesis: how anthropomorphism defeats science. Philosophical Transactions: Biological Sciences, 349(1328), 215218.
Sun, J. X., Helgason, A., Masson, G. et al. (2012). A direct characterization of human mutation based on microsatellites. Nature Genetics, 44(10), 11611165.
Sutton, R. E., & Boothroyd, J. C. (1986). Evidence for trans-splicing in trypanosomes. Cell, 47, 527535.
Sutton, W. S. (1903). The chromosomes in heredity. Biological Bulletin, 4, 231251.
Suvà, M. L., Riggi, N., & Bernstein, B. E. (2013). Epigenetic reprogramming in cancer. Science, 339(6127), 15671570.
Tabery, J. (2014). Beyond Versus: The Struggle to Understand the Interaction of Nature and Nurture. Cambridge MA: MIT Press.
Takahashi, K., & Yamanaka, S. (2006). Induction of pluripotent stem cells from mouse embryonic and adult fibroblast cultures by defined factors. Cell, 126, 663676.
Temin, H., & Mizutani, S. (1970). RNA-dependent DNA polymerase in virions of Rous sarcoma virus. Nature, 226, 12111213.
Thein, S. L. (2013). The molecular basis of β-thalassemia. Cold Spring Harbor Perspectives in Medicine, 3(5), a011700.
Thein, S. L., Old, J. M., Wainscoat, J. S. et al. (1984). Population and genetic studies suggest a single origin for the Indian deletion βο thalassaemia. British Journal of Haematology, 57, 271278.
Thompson, W. C. (2013). Forensic DNA evidence: the myth of infallibility. In Krimsky, S., & Gruber, J. (Eds.) Genetic Explanations: Sense and Nonsense. Cambridge MA: Harvard University Press, 227255.
Thöny, B., & Blau, N. (2006). Mutations in the BH4-metabolizing genes GTP cyclohydrolase I, 6-pyruvoyl-tetrahydropterin synthase, sepiapterin reductase, carbinolamine-4a-dehydratase, and dihydropteridine reductase. Human Mutation, 27(9), 870878.
Tomasetti, C., & Vogelstein, B. (2015). Variation in cancer risk among tissues can be explained by the number of stem cell divisions. Science, 347(6217), 7881.
Tschermak, E. (1950/1900). Concerning artificial crossing in Pisum sativum. Genetics, 35, 4247.
Usifo, E., Leigh, S. E. A., Whittall, R. A., et al. (2012). Low-density lipoprotein receptor gene familial hypercholesterolemia variant database: update and pathological assessment. Annals of Human Genetics, 76, 387401.
Varmus, H. (2006). The new era in cancer research. Science, 312(5777), 11621165.
Vassos, E., Collier, D. A., & Fazel, S. (2014). Systematic meta-analyses and field synopsis of genetic association studies of violence and aggression. Molecular Psychiatry, 19(4), 471477.
Veeramachaneni, V., Makalowski, W., Galdzicki, M., Sood, R., & Makalowska, I. (2004). Mammalian overlapping genes: the comparative perspective. Genome Research, 14, 280286.
Venter, J. C., Adams, M. D., Myers, E. W., et al. (2001). The sequence of the human genome. Science, 291(5507), 13041351.
Vettese-Dadey, M., Grant, P. A., Hebbes, T. R., et al. (1996). Acetylation of histone H4 plays a primary role in enhancing transcription factor binding to nucleosomal DNA in vitro. EMBO Journal, 15(10), 2508.
Vicedo, M. (1992). The human genome project: towards an analysis of the empirical, ethical, and conceptual issues involved. Biology and Philosophy, 7(3), 255278.
Vickery, H. B. (1950). The origin of the word protein. Yale Journal of Biology and Medicine, 22(5), 387393.
Visscher, P. M. (2008). Sizing up human height variation. Nature Genetics, 40(5), 489490.
Visscher, P. M., Hill, W. G., & Wray, N. R. (2008). Heritability in the genomics era – concepts and misconceptions. Nature Reviews Genetics, 9(4), 255266.
Visscher, P. M., Brown, M. A., McCarthy, M. I., & Yang, J. (2012). Five years of GWAS discovery. American Journal of Human Genetics, 90(1), 724.
Visscher, P. M., Medland, S. E., Ferreira, M. A. R., et al. (2006). Assumption-free estimation of heritability from genome-wide identity-by-descent sharing between full siblings. PLoS Genetics, 2(3), e41. doi:10.1371/journal.pgen.0020041
Vogelstein, B., Papadopoulos, N., Velculescu, V. E., et al. (2013). Cancer genome landscapes. Science, 339(6127), 15461558.
Voit, E. O. (2016). The Inner Workings of Life: Vignettes in Systems Biology. Cambridge: Cambridge University Press.
von Meyenn, F., & Reik, W. (2015). Forget the parents: epigenetic reprogramming in human germ cells. Cell, 161(6), 12481251.
Waddington, C. H. (1942). The epigenotype. Endeavour,1, 1820 (reprinted in International Journal of Epidemiology, 41(1), 1013).
Waddington, C. H. (1957). The Strategy of the Genes: A Discussion of Some Aspects of Theoretical Biology. London: Allen & Unwin.
Wain, H. M., Bruford, E. A., Lovering, R. C. et al. (2002). Guidelines for human gene nomenclature. Genomics, 79(4), 464470.
Waller, J. C. (2001). Ideas of heredity, reproduction and eugenics in Britain, 1800–1875. Studies in History and Philosophy of Science Part C: Studies in History and Philosophy of Biological and Biomedical Sciences, 32(3), 457489.
Walpole, B., Merson-Davies, A., & Dann, L. (2011). Biology for the IB Diploma Coursebook. Cambridge: Cambridge University Press.
Walsh, D. (2006). Evolutionary essentialism. British Journal for the Philosophy of Science 57(2), 425448.
Walsh, R., Thomson, K., Ware, J. S. et al. (2016). Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples. Genetics in Medicine (advance online publication).
Wang, E. T., Sandberg, R., Luo, S., et al. (2008). Alternative isoform regulation in human tissue transcriptomes. Nature, 456, 470476.
Wang, X., Miller, D. C., Harman, R., Antczak, D. F., & Clark, A. G. (2013). Paternally expressed genes predominate in the placenta. Proceedings of the National Academy of Sciences, 110(26), 1070510710.
Ward, W., McGonegal, R., Tostas, P., & Damon, A. (2008). Pearson Baccalaureate: Higher level Biology for the IB diploma. Harlow GB: Pearson Education Limited.
Waters, C. K. (1994). Genes made molecular. Philosophy of Science, 61, 163–85.
Waters, C. K. (2007). Causes that make a difference. Journal of Philosophy, 104, 551579.
Watson, J. D. (1992) A personal view of the project. In Kevles, D. J. & Hood, L. (Eds.) The Code of Codes: Scientific and Social Issues in the Human Genome Project. Cambridge MA: Harvard University Press, 164173.
Watson, J. D. (1996/1968). The Double Helix: A Personal Account of the Discovery of the Structure of DNA. New York: Touchstone.
Watson, J. D., & Crick, F. H. C. (1953a). Molecular structure of nucleic acids. Nature, 171, 737738.
Watson, J. D., & Crick, F. H. C. (1953b). Genetical implications of the structure of deoxyribonucleic acid. Nature, 171, 964967.
Weatherall, D. J. (2001). Phenotype – genotype relationships in monogenic disease: lessons from the thalassaemias. Nature Reviews Genetics, 2(4), 245255.
Weatherall, D. J. (2004). The thalassemias: the role of molecular genetics in an evolving global health problem. American Journal of Human Genetics, 74(3), 385392.
Weedon, M. N., Lango, H., Lindgren, C. M. et al. (2008). Genome-wide association analysis identifies 20 loci that influence adult height. Nature Genetics, 40(5), 575583.
Weischenfeldt, J., Symmons, O., Spitz, F., & Korbel, J. O. (2013). Phenotypic impact of genomic structural variation: insights from and for human disease. Nature Reviews Genetics, 14, 125138.
Weismann, A. (1893/1892). The Germ-Plasm: A Theory of Heredity. New York: Charles Scribner’s Sons.
Weldon, W. F. R. (1902). Mendel’s laws of alternative inheritance in peas. Biometrika, 1, 228254.
Wheeler, D. A., Srinivasan, M., Egholm, M. et al. (2008). The complete genome of an individual by massively parallel DNA sequencing. Nature, 452(7189), 872876.
Whipple, G. H., & Bradford, W. L. (1936). Mediterranean disease-thalassemia (erythroblastic anemia of Cooley): associated pigment abnormalities simulating hemochromatosis. Journal of Pediatrics, 9(3), 279311.
Wilkins, J. S. (2009). Species: A History of the Idea. Berkeley CA: University of California Press.
Wilkins, J. S. (2013). Essentialism in biology. In Kampourakis, K. (Ed.) The Philosophy of Biology: A Companion for Educators. Dordrecht: Springer, 395419.
Wilkins, M. H. F., Stokes, A. R., & Wilson, H. R. (1953). Molecular structure of deoxypentose nucleic acids. Nature, 171, 738740.
Wilson, E. B. (1896). The Cell in Development and Inheritance. London: Macmillan & Co. Ltd.
Winchester, A. M. (2013). The Work of Mendel. Encyclopedia Britannica, Retrieved February 20, 2014,
Witkin, H. A., Mednick, S., Schulsinger, F. et al. (1976). Criminality in XYY and XXY men: the elevated crime rate of XYY males is not related to aggression. It may be related to low intelligence. Science, 193(4253), 547555.
Wolffe, A. P., & Pruss, D. (1996). Targeting chromatin disruption: transcription regulators that acetylate histones. Cell, 84(6), 817819.
Wolpert, L. (1992). The Unnatural Nature of Science: Why Science Does Not Make (Common) Sense. Cambridge MA: Harvard University Press.
Wolpert, L. (2009). How We Live and Why We Die: The Secret Lives of Cells. London: Faber & Faber.
Wolpert, L. (2011). Developmental Biology: A Very Short Introduction. Oxford: Oxford University Press.
Wood, R. J., & Orel, V. (2005). Scientific breeding in Central Europe during the early nineteenth century: background to Mendel’s later work. Journal of the History of Biology, 38, 239272.
Wood, A. R., Esko, T., Yang, J., Vedantam, S., et al. (2014). Defining the role of common variation in the genomic and biological architecture of adult human height. Nature Genetics, 46(11), 11731186.
Wu, S., Powers, S., Zhu, W., & Hannun, Y. A. (2016). Substantial contribution of extrinsic risk factors to cancer development. Nature, 529(7584), 4347.
Wu, C. S., Yu, C. Y., Chuang, C. Y. et al. (2014). Integrative transcriptome sequencing identifies trans-splicing events with important roles in human embryonic stem cell pluripotency. Genome Research, 24(1), 2536.
Yamanaka, S. (2009). Elite and stochastic models for induced pluripotent stem cell generation. Nature, 460(7251), 49.
Yanai, I., & Lercher, M. (2016). The Society of Genes. Cambridge MA: Harvard University Press.
Yang, J., Benyamin, B., McEvoy, B. P. et al. (2010). Common SNPs explain a large proportion of the heritability for human height. Nature Genetics, 42(7), 565569.
Yang, J., Manolio, T. A., Pasquale, L. R. et al. (2011). Genome partitioning of genetic variation for complex traits using common SNPs. Nature Genetics, 43(6), 519525.
Yu, P., Ma, D., & Xu, M. (2005). Nested genes in the human genome. Genomics, 86, 414422.
Zhang, D.-W., Lagace, T. A., Garuti, R. et al. (2007). Binding of proprotein convertase subtilisin/kexin type 9 to epidermal growth factor-like repeat A of low density lipoprotein receptor decreases receptor recycling and increases degradation. Journal of Biological Chemistry, 282, 1860218612.
Zijlstra, M., Bix, M., Simister, N. E. et al. (1990). β2-microglobulin deficient mice lack CD4–8+ cytolytic T cells. Nature, 344, 742746.