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), E682–E691.Google Scholar

Abifadel, M., Varret, M., Rabès, J.-P. et al. (2003). Mutations in PCSK9 cause autosomal dominant hypercholesterolemia. Nature Genetics, 34, 154–156.Google Scholar

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), 593–599.CrossRefGoogle ScholarPubMed

Adkins, N. L., & Georgel, P. T. (2010). MeCP2: structure and function. Biochemistry and Cell Biology, 89(1), 1–11.Google Scholar

Alberts, B., Bray, D., Hopkin, K. et al. (2010). Essential Cell Biology (3rd edn). New York and London: Garland Science.Google Scholar

Alexandrov, L. B., Jones, P. H., Wedge, D. C. et al. (2015). Clock-like mutational processes in human somatic cells. Nature Genetics, 47(12), 1402–1407.Google Scholar

Alfirevic, Z., Sundberg, K., & Brigham, S. (2009). Amniocentesis and chorionic villus sampling for prenatal diagnosis. Cochrane Review, 1, 1–142.Google Scholar

Alkuraya, F. S. (2015). Human knockout research: new horizons and opportunities. Trends in Genetics, 31(2), 108–115.CrossRefGoogle ScholarPubMed

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, 77–88.CrossRefGoogle ScholarPubMed

Allen, G. E. (1978a). Life Science in the Twentieth Century. Cambridge: Cambridge University Press.Google Scholar

Allen, G. E. (1978b). Thomas Hunt Morgan: The Man and His Science. Princeton: Princeton University Press.Google Scholar

Allen, G. E. (2003). Mendel and modern genetics: the legacy for today. Endeavour, 27, 63–68.Google Scholar

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), 8–39.Google Scholar

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), 832–838.CrossRefGoogle Scholar

American Cancer Society (2016). Cancer Facts & Figures. Atlanta: American Cancer Society.Google Scholar

Angelman, H. (1965). “Puppet” children: a report on three cases. Developmental Medicine & Child Neurology, 7(6), 681–688.Google Scholar

Annas, G. J., & Elias, S. (2014). 23andMe and the FDA. New England Journal of Medicine, 370(11), 985–988.Google Scholar

Annas, G. J., & Elias, S. (2015). Genomic Messages: How the Evolving Science of Genetics Affects Our Health, Families, and Future. New York: HarperOne.Google Scholar

Arney, A. (2016). Herding Hemingway’s Cats: Understanding How Our Genes Work. London & New York: Bloomsbury Sigma.Google Scholar

Arthur, W. (2004). Biased Embryos and Evolution. New York: Cambridge University Press.Google Scholar

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, 137–158.Google Scholar

Avise, J. C. (2001). Evolving genomic metaphors: a new look at the language of DNA. Science, 294(5540), 86–87.Google Scholar

Baltimore, D. (1970). RNA-dependent DNA polymerase in virions of RNA tumor viruses. Nature, 226, 1209–1211.Google Scholar

Baltimore, D. (1971). Expression of animal virus genomes. Bacteriological Reviews, 35(3), 235.Google Scholar

Baran, Y., Subramaniam, M., Biton, A. et al. (2015). The landscape of genomic imprinting across diverse adult human tissues. Genome Research, 25(7), 927–936.CrossRefGoogle ScholarPubMed

Barnes, B., & Dupré, J. (2008). Genomes and What to Make of Them. Chicago: University of Chicago Press.Google Scholar

Barrell, B. G., Air, G. M., & Hutchison, C. A. 3rd (1976). Overlapping genes in bacteriophage phiX174. Nature, 264(5581), 34–41.Google Scholar

Bartolomei, M. S. (2009). Genomic imprinting: employing and avoiding epigenetic processes. Genes & Development, 23(18), 2124–2133.CrossRefGoogle ScholarPubMed

Bateson, P., & Gluckman, P. (2011). Plasticity, Robustness, Development and Evolution. Cambridge: Cambridge University Press.Google Scholar

Bateson, W. (1902). Mendel’s Principles of Heredity: A Defence. London: Cambridge University Press.Google Scholar

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), 365–376.CrossRefGoogle Scholar

Beadle, G. W., & Tatum, E. L. (1941). Genetic control of biochemical reactions in Neurospora. Proceedings of the National Academies of Science, USA, 27, 499–506.Google Scholar

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, 39–57.Google Scholar

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, 173–185.Google Scholar

Beckwith, J., & King, J. (1974). The XYY syndrome: a dangerous myth. New Scientist, 64(923), 474–476.Google Scholar

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, 819–826.Google Scholar

Benzer, S. (1955). Fine structure of a genetic region in bacteriophage. Proceedings of the National Academies of Science USA, 41, 344–354.Google Scholar

Benzer, S. (1957). The elementary units of heredity. In Symposium on the Chemical Basis of Heredity. Baltimore: Johns Hopkins University Press, pp. 70–93.Google Scholar

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), 3171–3175.CrossRefGoogle Scholar

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), 591–599.CrossRefGoogle ScholarPubMed

Betteridge, D. J. (2013). Cardiovascular endocrinology in 2012: PCSK9 – an exciting target for reducing LDL-cholesterol levels. Nature Reviews Endocrinology, 9(2), 76–78.Google Scholar

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.Google Scholar

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), 115–122.Google Scholar

Bianchi, D. W. (2012). From prenatal genomic diagnosis to fetal personalized medicine: progress and challenges. Nature Medicine, 18(7), 1041–1051.CrossRefGoogle ScholarPubMed

Bickel, H., Gerrard, J., & Hickmans, E. M. (1953). Influence of phenylalanine intake on phenylketonuria. The Lancet, 265, 812–813.Google Scholar

Biggs, A., Hagins, W. C., Holliday, W. G., Kapicka, C. L., & Lundgren, L. (2009). Glencoe Science: Biology. New York: McGraw-Hill.Google Scholar

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), 91–99.Google Scholar

Blau, N., Shen, N., & Carducci, C. (2014). Molecular genetics and diagnosis of phenylketonuria: state of the art. Expert Review of Molecular Diagnostics, 14(6), 655–671.Google Scholar

Blau, N., van Spronsen, F. J., & Levy, H. L. (2010). Phenylketonuria. The Lancet, 376(9750), 1417–1427.Google Scholar

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, 524–534.Google Scholar

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, 516–521.Google Scholar

Botstein, D. (2015). Decoding the Language of Genetics. Cold Spring Harbor: Cold Spring Harbor Laboratory Press.Google Scholar

Bowler, P. J. (1989). The Mendelian Revolution: The Emergence of Hereditarian Concepts in Modern Science and Society. Baltimore: Johns Hopkins University Press.Google Scholar

Braam, J., & Davis, R. W. (1990). Rain-, wind-, and touch-induced expression of calmodulin and calmodulin-related genes in Arabidopsis. Cell, 60(3), 357–364.Google Scholar

Brannigan, A. (1979). The reification of Mendel. Social Studies of Science, 9, 423–454.Google Scholar

Brannigan, A. (1981). The Social Basis of Scientific Discoveries. Cambridge: Cambridge University Press.Google Scholar

Braude, P., Pickering, S., Flinter, F., & Ogilvie, C. M. (2002). Preimplantation genetic diagnosis. Nature Reviews Genetics, 3(12), 941–955.Google Scholar

Brenner, S. (1998). Refuge of spandrels. Current Biology, 8(19), R669.Google Scholar

Brenner, S., Jacob, F., & Meselson, M. (1961). An unstable intermediate carrying information from genes to ribosomes for protein synthesis. Nature, 190, 576–581.Google Scholar

Britten, R. J., & Davidson, E. H. (1969). Gene regulation for higher cells: a theory. Science, 165(3891), 349–357.Google Scholar

Brookes, A. J. (1999). The essence of SNPs. Gene, 234(2), 177–186.Google Scholar

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.Google Scholar

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), 176–184.Google Scholar

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), 1032–1039.Google Scholar

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), 578–580.CrossRefGoogle ScholarPubMed

Brush, S. G. (1978). Nettie M. Stevens and the discovery of sex determination by chromosomes. Isis, 69(2), 163–172.Google Scholar

Burbridge, D. (2001). Francis Galton on twins, heredity and social class. The British Journal for the History of Science, 34(3), 323–340.Google Scholar

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, 597–628.Google Scholar

Byrd, A. L., & Manuck, S. B. (2014). MAOA, childhood maltreatment, and antisocial behavior: meta-analysis of a gene-environment interaction. Biological Psychiatry, 75(1), 9–17.CrossRefGoogle ScholarPubMed

Carey, N. (2012). The Epigenetics Revolution: How Modern Biology Is Rewriting Our Understanding of Genetics, Disease, and Inheritance. New York: Columbia University Press.Google Scholar

Carey, N. (2015). Junk DNA: A Journey through the Dark Matter of the Genome. New York: Columbia University Press.Google Scholar

Carlson, E. A. (2004) Mendel’s Legacy: The Origin of Classical Genetics. Cold Spring Harbor, NY: Cold Spring Harbor Laboratory Press.Google Scholar

Carver, R., Waldahl, R., & Breivik, J. (2008). Frame that gene. EMBO Reports, 9(10), 943–947.CrossRefGoogle ScholarPubMed

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), 449–475.Google Scholar

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, 641–642.Google Scholar

Caspi, A., McClay, J., Moffitt, T. E. et al. (2002). Role of genotype in the cycle of violence in maltreated children. Science, 297(5582), 851–854.CrossRefGoogle ScholarPubMed

Castera, J., & Clement, P. (2014). Teachers’ conceptions about genetic determinism of human behaviour: a survey in 23 countries. Science & Education, 23(2), 417–443.Google Scholar

Castle, W. E. (1903). Mendel’s law of heredity. Science, 18(456), 396–406.Google Scholar

Cattanach, B. M. (1986). Parental origin effects in mice. Journal of Embryology and Experimental Morphology, 97(Supplement), 137–150.Google Scholar

Cattanach, B. M., & Kirk, M. (1985). Differential activity of maternally and paternally derived chromosome regions in mice. Nature, 315(6019), 496–498.Google Scholar

Caulfield, T., & McGuire, A. L. (2012). Direct-to-consumer genetic testing: perceptions, problems, and policy responses. Annual Review of Medicine, 63, 23–33.Google Scholar

Cech, T. R., & Steitz, J. A. (2014). The noncoding RNA revolution – trashing old rules to forge new ones. Cell, 157(1), 77–94.Google Scholar

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), 89–103.Google Scholar

Chen, R., Mias, G. I., Li-Pook-Than, J. et al. (2012). Personal omics profiling reveals dynamic molecular and medical phenotypes. Cell, 148(6), 1293–1307.Google Scholar

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), 531–538.Google Scholar

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), 626–637.Google Scholar

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), 1–8.Google Scholar

Cobb, M. (2006). Heredity before genetics: a history. Nature Reviews Genetics, 7, 953–958.Google Scholar

Cobb, M. (2015). Life’s Greatest Secret: The Story of the Race to Crack the Genetic Code. London: Profile Books.Google Scholar

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, 1264–1272.Google Scholar

Collins, F. S. (1999). Medical and societal consequences of the Human Genome Project. New England Journal of Medicine, 341(1), 28–37.Google Scholar

Collins, F. S. (2010). The Language of Life: DNA and the Revolution in Personalized Medicine. New York: Harper.Google Scholar

Collins, F. S., & Varmus, H. (2015). A new initiative on precision medicine. New England Journal of Medicine, 372, 793–795.Google Scholar

Comfort, N. (2012). The Science of Human Perfection: How Genes Became the Heart of American Medicine. New Haven & London: Yale University Press.Google Scholar

Condit, C. M. (1999). How the public understands genetics: non-deterministic and non-discriminatory interpretations of the “blueprint” metaphor. Public Understanding of Science, 8, 169–180.Google Scholar

Condit, C. M. (2007). How geneticists can help reporters to get their story right. Nature Reviews Genetics, 8, 815–820.Google Scholar

Condit, C. M. (2010a). Public attitudes and beliefs about genetics. Annual Review of Genomics and Human Genetics, 11, 339–359.Google Scholar

Condit, C. M. (2010b). Public understandings of genetics and health. Clinical Genetics, 77, 1–9.CrossRefGoogle ScholarPubMed

Condit, C. M., Ofulue, N., & Sheedy, K. M. (1998). Determinism and mass-media portrayals of genetics. American Journal of Human Genetics, 62(4), 979–984.Google Scholar

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), 379–395.Google Scholar

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.Google Scholar

Correns, C. (1950/1900). G. Mendel’s law concerning the behavior of progeny of varietal hybrids. Genetics, 35, 33–41.Google Scholar

Couzin-Frankel, J. (2015a). Bad luck and cancer: a science reporter’s reflections on a controversial story. Science (available at www.sciencemag.org/news/2015/01/bad-luck-and-cancer-science-reporter-s-reflections-controversial-story).Google Scholar

Couzin-Frankel, J. (2015b). The bad luck of cancer. Science, 347(6217), 12.Google Scholar

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, 107–121.Google Scholar

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), 492–497.Google Scholar

Crick, F. (1958). On protein synthesis. Symposium of the Society of Experimental Biology, 12, 138–163.Google Scholar

Crick, F. (1970). Central dogma of molecular biology. Nature, 227, 561–563.Google Scholar

Crick, F. (1979). Split genes and RNA splicing. Science, 204, 264–271.Google Scholar

Crick, F. H. C., Griffith, J. S., & Orgel, L. E. (1957). Codes without commas. Proceedings of the National Academy of Sciences, 43, 416–421.Google Scholar

Crick, F. H. C. (1988), What Mad Pursuit: A Personal View of Scientific Discovery. New York: Basic Books.Google Scholar

Crick, F. H. C., Barnett, L., Brenner, S., & Watts-Tobin, R. J. (1961). General nature of the genetic code for proteins. Nature, 192, 1227–1232.Google Scholar

Dar-Nimrod, I. (2012). Postgenomics and genetic essentialism. Behavioral and Brain Sciences, 35, 362–363.Google Scholar

Dar-Nimrod, I., & Heine, S. J. (2011). Genetic essentialism: on the deceptive determinism of DNA. Psychological Bulletin, 137(5), 800–818.Google Scholar

Dar-Nimrod, I., Cheung, B., Ruby, M., & Heine, S. (2014). Can merely learning about obesity genes affect eating behavior? Appetite, 81, 269–276.Google Scholar

Darden, L. (1991). Theory Change in Science: Strategies from Mendelian Genetics. New York: Oxford University Press.Google Scholar

Darwin, C. (1859). On the Origin of Species by Means of Natural Selection. London: John Murray.Google Scholar

Darwin, C. (1868). The Variation of Animals and Plants under Domestication. London: John Murray.Google Scholar

Darwin, C. (1871). Pangenesis. Nature, 3, 502–503.Google Scholar

Davenport, G. C., & Davenport, C. B. (1907). Heredity of eye-color in man. Science, 26, 590–592.Google Scholar

Davies, J. A. (2014). Life Unfolding: How the Human Body Creates Itself. Oxford: Oxford University Press.Google Scholar

Davies, K. (2001). Cracking the Genome: Inside the Race to Unlock Human DNA. New York: Free Press.Google Scholar

Davies, K. (2010). The $1,000 Genome: The Revolution in DNA Sequencing and the New Era of Personalized Medicine. New York: Free Press.Google Scholar

Dawson, M. A., & Kouzarides, T. (2012). Cancer epigenetics: from mechanism to therapy. Cell, 150(1), 12–27.Google Scholar

De Vries, H. (1910/1889). Intracellular Pangenesis. Chicago: Open Court Publishing Co.Google Scholar

De Vries, H. (1950/1900). Concerning the law of segregation of hybrids. Genetics, 35, 30–32.Google Scholar

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), 542–551.Google Scholar

Depew, D. J., & Weber, B. H. (1995). Darwinism evolving: Systems dynamics and the genealogy of natural selection. Cambridge MA: MIT Press.Google Scholar

Dermitzakis, E. T. (2012). Cellular genomics for complex traits. Nature Reviews Genetics, 13, 215–220.Google Scholar

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), 1014–1016.Google Scholar

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), 13403–13408.Google Scholar

Donnelly, P. (2008). Progress and challenges in genome-wide association studies in humans. Nature, 456(7223), 728–731.Google Scholar

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), 325–360.Google Scholar

Doolittle, W. F. (2013). Is junk DNA bunk? A critique of ENCODE. Proceedings of the National Academy of Sciences, 110(14), 5294–5300.Google Scholar

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), 519–532.Google Scholar

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), 241–252.Google Scholar

Duncan, R. G., & Reiser, B. J. (2007). Reasoning across ontologically distinct levels: students’ understandings of molecular genetics. Journal of Research in Science Teaching, 938–959.Google Scholar

Dunn, L. C. (1991/1965). A Short History of Genetics. Ames Iowa: Iowa State University Press.Google Scholar

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), 2243–2257.Google Scholar

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), 323–335.Google ScholarPubMed

Eddy, S. R. (2013). The ENCODE project: missteps overshadowing a success. Current Biology, 23(7), R259–R261.Google Scholar

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): 141–162.Google Scholar

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, 177–187.Google Scholar

ENCODE Project Consortium (2007). Identification and analysis of functional elements in 1% of the human genome by the ENCODE pilot project. Nature, 447(7146), 799–816.Google Scholar

ENCODE Project Consortium (2012). An integrated encyclopedia of DNA elements in the human genome. Nature, 489(7414), 57–74.Google Scholar

Engel, E. (1972). The making of an XYY. American Journal of Mental Deficiency, 77(2), 123–127.Google Scholar

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), 99–109.Google Scholar

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, 1894–1905.Google Scholar

Esteller, M. (2008). Epigenetics in cancer. New England Journal of Medicine, 358(11), 1148–1159.Google Scholar

Esteller, M. (2011). Epigenetic changes in cancer. F1000 Biol Rep, 3, 9. doi: 10.3410/B3-9Google Scholar

Etchegary, H., Cappelli, M., Potter, B. et al. (2010). Attitude and knowledge about genetics and genetic testing. Public Health Genomics, 13(2), 80–88.Google Scholar

Evans, J. P., Meslin, E.M., Marteau, T.M. et al. (2011). Deflating the genomic bubble. Science, 331, 861–862.Google Scholar

Falk, R. (2009). Genetic Analysis: A History of Genetic Thinking. Cambridge: Cambridge University Press.Google Scholar

Farajollahi, S., & Maas, S. (2010). Molecular diversity through RNA editing: a balancing act. Trends in Genetics, 26(5), 221–230.Google Scholar

Feinberg, A. P., & Tycko, B. (2004). The history of cancer epigenetics. Nature Reviews Cancer, 4, 143–153.Google Scholar

Feng, S., Jacobsen, S. E., & Reik, W. (2010). Epigenetic reprogramming in plant and animal development. Science, 330(6004), 622–627.Google Scholar

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.Google Scholar

Feuk, L., Carson, A. R., & Scherer, S. W. (2006). Structural variation in the human genome. Nature Reviews Genetics, 7(2), 85–97.Google Scholar

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), 427–444.Google Scholar

Fields, S., & Johnston, M. (2010). Genetic Twists of Fate. Cambridge MA: MIT Press.Google Scholar

Firestein, S. (2012). Ignorance: How It Drives Science. Oxford: Oxford University Press.Google Scholar

Firestein, S. (2016). Failure: Why Science Is so Successful. Oxford: Oxford University Press.Google Scholar

Følling, A. (1934). The excretion of phenylpyruvic acid in the urine, an anomaly of metabolism in connection with imbecility. Zeitschrift fur Physiologische Chemie, 227, 169–176.Google Scholar

Følling, I. (1994). The discovery of phenylketonuria. Acta Paediatrica, 83(s407), 4–10.Google Scholar

Fox, R. G. (1971). The XYY offender: a modern myth? Journal of Criminal Law, Criminology, and Police Science, 62(1), 59–73.Google Scholar

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), 10604–10609.Google Scholar

Francis, R. C. (2012). Epigenetics: How Environment Shapes Our Genes. W. W. Norton & Company.Google Scholar

Franklin, R., & Gosling, R. G. (1953). Molecular configuration in sodium thymonucleate. Nature, 171, 740–741.Google Scholar

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), 241–251.Google Scholar

Frudakis, T., Terravainen, T., & Thomas, M. (2007). Multilocus OCA2 genotypes specify human iris colors. Human Genetics, 122(3–4), 311–326.Google Scholar

Frudakis, T., Thomas, M., Gaskin, Z. et al. (2003). Sequences associated with human iris pigmentation. Genetics, 165(4), 2071–2083.Google Scholar

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), 443–449.Google Scholar

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, 393–410.Google Scholar

Galton, F. (1871b). Pangenesis. Nature, 4, 5–6.Google Scholar

Galton, F. (1874). English Men of Science: Their Nature and Nurture. London: Macmillan & Co.Google Scholar

Galton, F. (1876). A theory of heredity. Journal of the Anthropological Institute, 5, 329–348.Google Scholar

Galton, F. (1886). Hereditary stature. Nature, 33, 295–298.Google Scholar

Galton, F. (1889). Natural Inheritance. London: MacmillanGoogle Scholar

Gannett, L. (1999). What’s in a cause? The pragmatic dimensions of genetic explanations. Biology and Philosophy, 14, 349–373.Google Scholar

Gannett, L. (2013). Genomics and society: why “discovery” matters. In Kampourakis, K. (Ed.) The Philosophy of Biology: A Companion for Educators. Dordrecht: Springer, 653–685.Google Scholar

Gannett, L. (2014). “The Human Genome Project,” The Stanford Encyclopedia of Philosophy (Winter 2014 Edition), Zalta, E. N. (Ed.) http://plato.stanford.edu/archives/win2014/entries/human-genome/.Google Scholar

Gelman, S. A. (2003). The Essential Child: Origins of Essentialism in Everyday Thought. Oxford: Oxford University Press.Google Scholar

Gelman, S. A. (2004). Psychological essentialism in children. TRENDS in Cognitive Sciences, 8(9), 404–409.Google Scholar

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), 381–416.Google Scholar

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), 669–681.Google Scholar

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), 295–301.Google Scholar

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), D1063–D1069.Google Scholar

Gibson, G. (2012). Rare and common variants: twenty arguments. Nature Reviews Genetics, 13(2), 135–145.Google Scholar

Giere, R. N. (2006) Scientific Perspectivism. Chicago and London: University of Chicago Press.Google Scholar

Gigerenzer, G. (2002). Calculated Risks: How to Know When Numbers Deceive You. New York: Simon and Schuster.Google Scholar

Gilbert, W. (1978). Why genes in pieces? Nature, 271, 501.Google Scholar

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, 83–97.Google Scholar

Gilbert, W., & Muller-Hill, B. (1966). Isolation of the lac repressor. Proceedings of the National Academy of Sciences, 56(6), 1891–1898.Google Scholar

Gill, P., Jeffreys, A. J., & Werrett, D. J. (1985). Forensic application of DNA “fingerprints.” Nature, 318(6046), 577–579.Google Scholar

Gillham, N. W. (2001). A Life of Sir Francis Galton: From African Explorations to the Birth of Eugenics. Oxford: Oxford University Press.Google Scholar

Gladwell, M. (2008). Outliers: The Story of Success. New York: Little, Brown and Company.Google Scholar

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), 179–209.Google Scholar

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.Google Scholar

Godfrey-Smith, P. (2014). Philosophy of Biology. Princeton: Princeton University Press.Google Scholar

Goding, C. R., Pei, D., & Lu, X. (2014). Cancer: pathological nuclear reprogramming?. Nature Reviews Cancer, 14(8), 568–573.Google Scholar

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, 413–484; 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), 104–141.Google Scholar

Gofman, J. W., Lindgren, F., Elliott, H., et al. (1950). The role of lipids and lipoproteins in atherosclerosis. Science, 111, 166–171.Google Scholar

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, 811–816.Google Scholar

Goldstein, J. L., & Brown, M. S. (2015). A century of cholesterol and coronaries: from plaques to genes to statins. Cell, 161(1), 161–172.Google Scholar

Gott, J. M., & Emeson, R. B. (2000). Functions and mechanisms of RNA editing. Annual Review of Genetics, 34(1), 499–531.Google Scholar

Gould, S. J. (1996). The Mismeasure of Man (Revised and Expanded Edition). New York & London: W.W. Norton & Company.Google Scholar

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.Google Scholar

Graur, D., Zheng, Y., & Azevedo, R. B. (2015). An evolutionary classification of genomic function. Genome Biology and Evolution, 7(3), 642–645.Google Scholar

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), 578–590.Google Scholar

Green, R.C., & Farahany, N.A. (2014) The FDA is overcautious on consumer genomics. Nature, 505, 286–287.Google Scholar

Greenman, C., Stephens, P., Smith, R. et al. (2007). Patterns of somatic mutation in human cancer genomes. Nature, 446(7132), 153–158.Google Scholar

Griffiths, P., & Stotz, K. (2013). Genetics and Philosophy: An Introduction. Cambridge: Cambridge University Press.Google Scholar

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.Google Scholar

Gros, F., Hiatt, H., Gilbert, W. et al. (1961). Unstable ribonucleic acid revealed by pulse labelling of Escherichia coli. Nature, 190, 581–585.Google Scholar

Gudbjartsson, D. F., Walters, G. B., Thorleifsson, G. et al. (2008). Many sequence variants affecting diversity of adult human height. Nature Genetics, 40(5), 609–615.Google Scholar

Guthrie, R., & Susi, A. (1963). A simple phenylalanine method for detecting phenylketonuria in large populations of newborn infants. Pediatrics, 32, 338–343.Google Scholar

Guttmacher, A. E., Porteous, M. E., & McInerney, J. D. (2007). Educating health-care professionals about genetics and genomics. Nature Reviews Genetics, 8(2), 151–157.Google Scholar

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), 388–394.Google Scholar

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, 115–120.Google Scholar

Haldane, J. B. S. (1936). A provisional map of a human chromosome. Nature, 137, 398–400.Google Scholar

Haldane, J. B. S. (1938). Blood royal: a study of haemophilia in the royal families of Europe. Modern Quarterly, 1, 129–39.Google Scholar

Haldane, J. B. S. (1939). Blood royal. The Living Age, 26–31.Google Scholar

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, 9–13.Google Scholar

Hall, B., Limaye, A., & Kulkarni, A. B. (2009). Overview: generation of gene knockout mice. Current Protocols in Cell Biology, Unit 19–12, 11–17.Google Scholar

Hanahan, D., & Weinberg, R. A. (2000). The hallmarks of cancer. Cell, 100(1), 57–70.Google Scholar

Hanahan, D., & Weinberg, R. A. (2011). Hallmarks of cancer: the next generation. Cell, 144(5), 646–674.Google Scholar

Hand, D. J. (2014). The Improbability Principle: Why Coincidences, Miracles, and Rare Events Happen Day. New York: Scientific American/Farrar, Straus and Giroux.Google Scholar

Harper, J. C., & SenGupta, S. B. (2012). Preimplantation genetic diagnosis: state of the art 2011. Human Genetics, 131(2), 175–186.Google Scholar

Hayden, E. C. (2016). Seeing deadly mutations in a new light. Nature, 538, 154–157.Google Scholar

Heard, E., & Martienssen, R. A. (2014). Transgenerational epigenetic inheritance: myths and mechanisms. Cell, 157(1), 95–109.Google Scholar

Hegreness, M., & Meselson, M. (2007). What did Sutton see?: Thirty years of confusion over the chromosomal basis of Mendelism. Genetics, 176(4), 1939–1944.Google Scholar

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, 33–42Google Scholar

Hershey, A. D., & Chase, M. (1952). Independent functions of viral proteins and nucleic acid in growth of bacteriophage. Journal of General Physiology, 36, 39–56.Google Scholar

Higgs, D. R., Engel, J. D., & Stamatoyannopoulos, G. (2012). Thalassaemia. The Lancet, 379(9813), 373–383.Google Scholar

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.Google Scholar

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, 241–257.Google Scholar

Hochedlinger, K., & Plath, K. (2009). Epigenetic reprogramming and induced pluripotency. Development, 136(4), 509–523.Google Scholar

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, 115–155.Google Scholar

Holmes, S. J., & Loomis, H. M. (1909). The heredity of eye color and hair color in man. Biological Bulletin, 18(1), 50–65.Google Scholar

Holoch, D., & Moazed, D. (2015). RNA-mediated epigenetic regulation of gene 3expression. Nature Reviews Genetics, 16(2), 71–84.Google Scholar

Horowitz, N. H. (1948). The one gene-one enzyme hypothesis. Genetics, 33(6), 612–613.Google Scholar

Horton, J. D., Cohen, J. C., & Hobbs, H. H. (2009). PCSK9: a convertase that coordinates LDL catabolism. Journal of Lipid Research, 50, S172–S177.Google Scholar

Horton, W. A., Hall, J. G., & Hecht, J. T. (2007). Achondroplasia. The Lancet, 370, 162–172.CrossRefGoogle ScholarPubMed

Hubbard, R. (2013). The mismeasure of the gene. In Krimsky, S., & Gruber, J. (Eds). Genetic Explanations: Sense and Nonsense. Cambridge MA: Harvard University Press, 17–25.Google Scholar

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.Google Scholar

Hughes, V. (2014). Epigenetics: the sins of the father. Nature, 507, 22–24.Google Scholar

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, 85–96.Google Scholar

Ingram, V. M. (1956). A specific chemical difference between globins of normal and sickle-cell anemia hemoglobins. Nature, 178(4537), 792–794.Google Scholar

Ioannidis, J. P. A. (2005). Why most published research findings are false. PLoS Medicine, 2(8), e124.Google Scholar

Ioannidis, J. P. A. (2016). Why most clinical research is not useful. PLoS Medicine, 13(6), e1002049.Google Scholar

Jablonka, E. (2013). Some problems with genetic horoscopes. In Krimsky, S., & Gruber, J. (Eds.) Genetic Explanations: Sense and Nonsense. Cambridge MA: Harvard University Press, 76–80.Google Scholar

Jablonka, E., & Lamb, M. J. (2002). The changing concept of epigenetics. Annals of the New York Academy of Sciences, 981(1), 82–96.Google Scholar

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.Google Scholar

Jacob, F., & Monod, J. (1961). Genetic regulatory mechanisms in the synthesis of proteins. Journal of Molecular Biology, 3, 318–356.Google Scholar

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.Google Scholar

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, 1351–1352.Google Scholar

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, 452–454.Google Scholar

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, 577–595.Google Scholar

Jeffreys, A. J., Brookfield, J. F. Y., & Semeonoff, R. (1985). Positive identification of an immigration test-case using human DNA fingerprints. Nature, 317, 818–819.Google Scholar

Jeffreys, A. J., Wilson, V., & Thein, S. L. (1985). Individual-specific “fingerprints” of human DNA. Nature, 316(6023), 76–79.Google Scholar

Jensen, A. R. (1969). How much can we boost IQ and scholastic achievement? Harvard Educational Review, 39, 1–123.Google Scholar

Jensen, A. R. (1970). Race and the genetics of intelligence: a reply to Lewontin. Bulletin of the Atomic Scientists, 26(5), 17–23.Google Scholar

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.Google Scholar

Jervis, G. A. (1947). Studies on phenylpyruvic oligophrenia: the position of the metabolic error. Journal of Biological Chemistry, 169, 651–656.Google Scholar

Jervis, G. A. (1953). Phenylpyruvic oligophrenia deficiency of phenylalanine-oxidizing system. Proceedings of the Society for Experimental Biology and Medicine, 82(3), 514–515.Google Scholar

Jobling, M., & Gill, P. (2004). Encoded evidence: DNA in forensic analysis. Nature Reviews Genetics, 5, 739–751.Google Scholar

Johannsen, W. (1911). The genotype conception of heredity. American Naturalist, 45 (531), 129–159.Google Scholar

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, 147–170.Google Scholar

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.Google Scholar

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), 85–91.Google Scholar

Kampourakis, K. (2013). Mendel and the path to genetics: portraying science as a social process. Science & Education, 22(2), 293–324.Google Scholar

Kampourakis, K. (2014). Understanding Evolution. Cambridge: Cambridge University Press.Google Scholar

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, 129–138.Google Scholar

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), 667–682.Google Scholar

Kampourakis, K., Vayena, E., Mitropoulou, C. et al. (2014). Next-generation pharmacogenomics and society: key challenges ahead. EMBO Reports, 15(5), 472–476.Google Scholar

Kaplan, J.M. (2000). The Limits and Lies of Human Genetic Research: Dangers for Social Policy. London: Routledge.Google Scholar

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, 17008–17013.Google Scholar

Kay, L. E. (2000). Who Wrote the Book of Life?: A History of the Genetic Code. Stanford: Stanford University Press.Google Scholar

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), 1309–1317.Google Scholar

Kayser, M., & deKnijff, P. (2011). Improving human forensics through advances in genetics, genomics and molecular biology. Nature Reviews Genetics, 12, 179–192.Google Scholar

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), 411–423.Google Scholar

Keller, E. F. (1983). A Feeling for the Organism: The Life and Work of Barbara McClintock. New York: Henry Holt.Google Scholar

Keller, E. F. (2000). The Century of the Gene. Cambridge MA: Harvard University Press.Google Scholar

Keller, E. F. (2010). The Mirage of a Space between Nature and Nurture. Duke University Press.Google Scholar

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, 9–31.Google Scholar

Keren, H., Lev-Maor, G., & Ast, G. (2010). Alternative splicing and evolution: diversification, exon definition and function. Nature Reviews Genetics, 11(5), 345–355.Google Scholar

Kevles, D. J. (1995). In the Name of Eugenics: Genetics and the Uses of Human Heredity. Cambridge MA: Harvard University Press.Google Scholar

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), 83–94.Google Scholar

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, 662–666.Google Scholar

Kirby, D. A. (2000). The new eugenics in cinema: genetic determinism and gene therapy in GATTACA. Science Fiction Studies, 27(2), 193–215.Google Scholar

Kirby, D. A. (2004). Extrapolating race in GATTACA: genetic passing, identity, and the science of race. Literature and Medicine, 23( 1), 184–200.Google Scholar

Kitcher, P. (1982). Genes. British Journal for the Philosophy of Science, 33, 337–359.Google Scholar

Kitcher, P. (1997). The Lives to Come: The Genetic Revolution and Human Possibilities. New York: Touchstone.Google Scholar

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, 283–300.Google Scholar

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.Google Scholar

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), 285–290.Google Scholar

Kohler, R. E. (1994). Lords of the Fly: Drosophila Genetics and the Experimental Life. Chicago: University of Chicago Press.Google Scholar

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, 1227–1230.Google Scholar

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), 471–475.Google Scholar

Kornberg, R. D. (1974). Chromatin structure: a repeating unit of histones and DNA. Science, 184, 868–871.Google Scholar

Kornberg, R. D., & Thomas, J. O. (1974). Chromatin structure; oligomers of the histones. Science, 184, 865–868.Google Scholar

Kouzarides, T. (2007). Chromatin modifications and their function. Cell, 128(4), 693–705.Google Scholar

Krimsky, S., & Gruber, J. (Eds.) (2013). Genetic Explanations: Sense and Nonsense. Cambridge MA: Harvard University Press.Google Scholar

Krimsky, S., & Simoncelli, T. (2011). Genetic Justice: DNA Data Banks, Criminal Investigations, and Civil Liberties. New York: Columbia University Press.Google Scholar

Kruglyak, L. (2008). The road to genome-wide association studies. Nature Reviews Genetics, 9(4), 314–318.Google Scholar

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), 2001–2009.Google Scholar

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), 304–312.Google Scholar

Lander, E. S. (2011). Initial impact of the sequencing of the human genome. Nature, 470(7333), 187–197.Google Scholar

Lander, E. S. (2015). Cutting the Gordian helix–regulating genomic testing in the era of precision medicine. New England Journal of Medicine, 372(13), 1185–1186.Google Scholar

Lander, E. S., Linton, L. M., Birren, B. et al. (2001). Initial sequencing and analysis of the human genome. Nature, 409(6822), 860–921.Google Scholar

Lannoy, N., & Hermans, C. (2010). The “royal disease”: haemophilia A or B? A haematological mystery is finally solved. Haemophilia, 16(6), 843–847.Google Scholar

Lee, J. T., & Bartolomei, M. S. (2013). X-inactivation, imprinting, and long noncoding RNAs in health and disease. Cell, 152(6), 1308–1323.Google Scholar

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), 11–21.Google Scholar

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, 285–291.Google Scholar

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, 7548–7553.Google Scholar

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), 584–591.Google Scholar

Levins, R., & Lewontin, R. C. (1985). The Dialectical Biologist. Cambridge MA: Harvard University Press.Google Scholar

Levy, S., Sutton, G., Ng, P. C. et al. (2007). The diploid genome sequence of an individual human. PLoS Biology 5(10), e254.Google Scholar

Lewin, B. (1980). Alternatives for splicing: recognizing the ends of introns. Cell, 22, 324–326.Google Scholar

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), 905–914.Google Scholar

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), 74–79.Google Scholar

Lewontin, R. C. (1970a). Further remarks on race and the genetics of intelligence. Bulletin of the Atomic Scientists, 26(5), 23–25.Google Scholar

Lewontin, R. C. (1970b). Race and intelligence. Bulletin of Atomic Scientists, 26, 2–8.Google Scholar

Lewontin, R. C. (1974). The analysis of variance and the analysis of causes. American Journal of Human Genetics, 26, 400–411.Google Scholar

Lewontin, R. C. (1993). The Doctrine of DNA: Biology as Ideology. London: Penguin.Google Scholar

Lewontin, R. C. (2000). The Triple Helix: Gene, Organism, and Environment. Cambridge MA: Harvard University Press.Google Scholar

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), 51–67.Google Scholar

Libby, P., Ridker, P. M., & Hansson, G. K. (2011). Progress and challenges in translating the biology of atherosclerosis. Nature, 473, 317–325.Google Scholar

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), 78–85.Google Scholar

Lindee, S. (2005) Moments of Truth in Genetic Medicine. Baltimore: Johns Hopkins University Press.Google Scholar

Link, K. P. (1959). The discovery of dicumarol and its sequels. Circulation, 19(1), 97–107.Google Scholar

Lipkin, S. M., & Luoma, J. (2016). The Age of Genomes: Tales from the Front Lines of Genetic Medicine. Boston: Beacon Press.Google Scholar

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, 39–72.Google Scholar

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.Google Scholar

Loukopoulos, D. (2014). Milestones in the history of thalassemia and sickle cell disease. Thalassemia Reports, 4(3), 29–32.Google Scholar

Lupski, J. R. (2013). Genome mosaicism: one human, multiple genomes. Science, 341(6144), 358–359.Google Scholar

Lynch, K. W. (2004). Consequences of regulated pre-mRNA splicing in the immune system. Nature Reviews Immunology, 4(12), 931–940.Google Scholar

Lynch, M., Cole, S. A., McNally, R., & Jordan, K. (2008). Truth Machine: The Contentious History of DNA Fingerprinting. Chicago: University of Chicago Press.Google Scholar

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, 823–828.Google Scholar

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), 469–476.Google Scholar

Maienschein, J. (2012). “Epigenesis and Preformationism.” The Stanford Encyclopedia of Philosophy (Spring 2012 Edition), Edward N. Zalta, (Ed.), http://plato.stanford.edu/archives/spr2012/entries/epigenesis/.Google Scholar

Maienschein, J. (2014). Embryos under the Microscope: The Diverging Meanings of Life. Cambridge MA: Harvard University Press.Google Scholar

Mak, T. W., Penninger, J. M., & Ohashi, P. S. (2001). Knockout mice: a paradigm shift in modern immunology. Nature Reviews Immunology, 1(1), 11–19.Google Scholar

Makalowska, I., Lin, C. F., & Makalowski, W. (2005). Overlapping genes in vertebrate genomes. Computational Biology and Chemistry, 29(1), 1–12.Google Scholar

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), 25–28.Google Scholar

Marks, J. (2008). The construction of Mendel’s laws. Evolutionary Anthropology, 17, 250–253.Google Scholar

Mathews, D. J. H., Kalfoglou, A., & Hudson, K. (2005). Geneticists’ views on science policy formation and public outreach. American Journal of Medical Genetics, 137A, 161–169.Google Scholar

Mattick, J. S., & Dinger, M. E. (2013). The extent of functionality in the human genome. HUGO Journal, 7(1), 2.Google Scholar

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), 356–369.Google Scholar

McClintock, B. (1953). Induction of instability at selected loci in maize. Genetics, 38(6), 579.Google Scholar

McClintock, B. (1956). Controlling elements and the gene. Cold Spring Harbor Symposia on Quantitative Biology, 21, 197–216.Google Scholar

McClintock, B. (1961). Some parallels between gene control systems in maize and in bacteria. American Naturalist, 95 (884), 265–277.Google Scholar

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.Google Scholar

Mendel, G. (1866). Versuche über Pflanzen-Hybriden, translation by Hall, Kersten and Müller-Wille, Staffan, available at http://centimedia.org/bshs-translations/mendel.Google Scholar

Meselson, M., & Stahl, F. W. (1958). The replication of DNA in Escherichia coli. Proceedings of the National Academy of Sciences, 44, 671–682.Google Scholar

Miko, I. (2008). Gregor Mendel and the principles of inheritance. Nature Education, 1(1), 134.Google Scholar

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), 56–60.Google Scholar

Miller, K. R., & Levine, J. S. (2010). Miller & Levine Biology. USA: Pearson Education.Google Scholar

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), 322–329.Google Scholar

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), 1157–1168.Google Scholar

Moore, D. S. (2002). The Dependent Gene: The Fallacy of “Nature vs. Nurture.” New York: Times Books/Henry Holt & Co.Google Scholar

Moore, D. S. (2008). Espousing interactions and fielding reactions: addressing laypeople’s beliefs about genetic determinism. Philosophical Psychology, 21(3), 331–348.Google Scholar

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, 43–50.Google Scholar

Moore, D. S. (2013b). Current thinking about nature and nurture. In Kampourakis, K. (Ed.) The Philosophy of Biology: A Companion for Educators. Dordrecht: Springer, 629–652.Google Scholar

Moore, D. S. (2015). The Developing Genome: An Introduction to Behavioral Epigenetics. Oxford: Oxford University Press.Google Scholar

Morange, M. (1998). A History of Molecular Biology. Cambridge MA: Harvard University Press.Google Scholar

Morange, M. (2002). The Misunderstood Gene. Cambridge MA: Harvard University Press.Google Scholar

Morell, V. (1993). Evidence found for a possible aggression gene. Science, 260(5115), 1722–1723.Google Scholar

Morgan, T. H. (1913). Factors and unit characters in Mendelian heredity. American Naturalist, 47, 5–16.Google Scholar

Morgan, T. H. (1917). The theory of the gene. American Naturalist, 51, 513–544.Google Scholar

Morgan, T. H. (1926). The Theory of the Gene. New Haven: Yale University Press.Google Scholar

Morgan, T. H., Sturtevant, A. H., Muller, H. J., & Bridges, C. B. (1915). The Mechanism of Mendelian Heredity. New York: Henry Holt and Company.Google Scholar

Morin-Chassé, A. (2014). Public (mis)understanding of news about behavioral genetics research: a survey experiment. BioScience, 64(12), 1170–1177.Google Scholar

Morris, C., Shen, A., Pierce, K., & Beckwith, J. (2007). Deconstructing violence. GeneWatch, 20(2), 3–9.Google Scholar

Morris, K. V., & Mattick, J. S. (2014). The rise of regulatory RNA. Nature Reviews Genetics, 15(6), 423.Google Scholar

Moss, L. (2003). What Genes Can’t Do. Cambridge MA: MIT Press.Google Scholar

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), 260–280.Google Scholar

Müller, C. (1938). Xanthomata, hypercholesterolemia, angina pectoris. Acta Medica Scandinavica, 95(S89), 75–84.Google Scholar

Muller, H. J. (1927). Artificial transmutation of the gene. Science, 46, 84–87.Google Scholar

Müller-Wille, S., & Rheinberger, H-J. (2012). A Cultural History of Heredity. Chicago: University of Chicago Press.Google Scholar

Mukherjee, S. (2016). The Gene: An Intimate History. New York: Scribner.Google Scholar

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, 459–461.Google Scholar

Nägeli von, C. (1898/1884). A Mechanico- Physiological Theory of Organic Evolution. Chicago: Open Court Publishing Co.Google Scholar

Neel, J. V. (1949). The inheritance of sickle cell anemia. Science, 110, 64–66.Google Scholar

Nelkin, D. (1995). Selling Science: How the Press Covers Science and Technology (Revised Edition). New York: W.H. Freeman & Company.Google Scholar

Nelkin, D., & Lindee, S. M. (2004). The DNA Mystique: The Gene as a Cultural Icon. Ann Arbor: University of Michigan Press.Google Scholar

Nersessian, N. J. (2008). Creating Scientific Concepts. Cambridge MA: MIT Press.Google Scholar

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, 238–271.Google Scholar

Neumann-Held, E. M., & Rehmann-Sutter, C. (Eds.) (2006). Genes in Development: Re-Reading the Molecular Paradigm. Durham and London: Duke University Press.Google Scholar

Ng, P. C., Murray, S. S., Levy, S., & Venter, J. C. (2009). An agenda for personalized medicine. Nature, 461(7265), 724–726.Google Scholar

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), 790–793.Google Scholar

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), 281–285.Google Scholar

Nilsen, T. W., & Graveley, B. R. (2010). Expansion of the eukaryotic proteome by alternative splicing. Nature, 463 (7280), 457–463.Google Scholar

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, 1161–1168.Google Scholar

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), 1588–1602.Google Scholar

Nishikura, K. (2016). A-to-I editing of coding and non-coding RNAs by ADARs. Nature Reviews Molecular Cell Biology, 17, 83–96.Google Scholar

Noble, D. (2006). The Music of Life: Biology beyond Genes. Oxford: Oxford University Press.Google Scholar

Nowicki, S. (2012). Holt McDougal Biology. Holt McDougal.Google Scholar

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), 303–314.Google Scholar

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), 433–457.Google Scholar

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), 292–311.Google Scholar

Ohno, S. (1972). So much “junk” DNA in our genome. Brookhaven Symposium on Biology, 23, 366–370.Google Scholar

Olby, R. (1970). Francis Crick, DNA, and the central dogma. Daedalus, 99(4), 938–987.Google Scholar

Olby, R. (1994/1974). The Path to the Double Helix. New York: Dover.Google Scholar

Olby, R. (2003). Quiet debut for the double helix. Nature, 421, 402–405.Google Scholar

Olby, R. (2009). Francis Crick, Hunter of Life’s Secrets. New York: Cold Spring Harbor Laboratory Press.Google Scholar

Olby, R. C. (1966). Origins of Mendelism. New York: Schocken Books.Google Scholar

Olby, R. C. (1979). Mendel no Mendelian? History of Science, 17, 53–72.Google Scholar

Olby, R. C. (1985). Origins of Mendelism (2nd ed.). Chicago: University of Chicago Press.Google Scholar

Olby, R. C. (2000). Horticulture: the font for the baptism of Genetics. Nature Reviews Genetics, 1, 65–70.Google Scholar

Old, J. M. (2003). Screening and genetic diagnosis of haemoglobin disorders. Blood Reviews, 17(1), 43–53.Google Scholar

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, 202–209.Google Scholar

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), 4176–4188.Google Scholar

Orel, V. (1984) Mendel. New York: Oxford University Press.Google Scholar

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, 1037–1041.Google Scholar

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), 1327–1335.Google Scholar

Palade, G. E. (1955). A small particulate component of the cytoplasm. Journal of Biophysical and Biochemical Cytology, 1, 59–68.Google Scholar

Palazzo, A. F., & Gregory, T. R. (2014) The case for junk DNA. PLoS Genetics, 10(5), e1004351.Google Scholar

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, 1413–1415.Google Scholar

Parrington, J. (2015). The Deeper Genome: Why There Is More to the Human Genome than Meets the Eye. Oxford: Oxford University Press.Google Scholar

Paul, D. B. (1995). Controlling Human Heredity: 1865 to the Present. New York: Humanity Books.Google Scholar

Paul, D. B. (1998). The Politics of Heredity: Essays on Eugenics, Biomedicine, and the Nature-Nurture Debate. New York: SUNY Press.Google Scholar

Paul, D. B. (2014). What was wrong with eugenics? Conflicting narratives and disputed interpretations. Science & Education, 23(2), 259–271.Google Scholar

Paul, D. B., & Brosco, J. P. (2013). The PKU Paradox: A Short History of a Genetic Disease. Baltimore: Johns Hopkins Universtiy Press.Google Scholar

Pauling, L., Itano, H. A., Singer, S. J., & Wells, I. C. (1949). Sickle cell anemia, a molecular disease. Science, 110 (2865), 543–548.Google Scholar

Pennisi, E. (2001). The human genome. Science, 291(5507), 1177–1180.Google Scholar

Penrose, L. S. (1935). Inheritance of phenylpyruvic amentia (phenylketonuria). Lancet, 2, 192–194.Google Scholar

Penrose, L. S., & Quastel, J. H. (1937). Metabolic studies in phenylketonuria. Biochemical Journal, 31, 266–271.Google Scholar