Williamson, R. Properties of rapidly labelled deoxyribonucleic acid fragments isolated from the cytoplasm of primary cultures of embryonic mouse liver cells. J. Mol. Biol. 51, 157-160 (1970). https://doi.org/10.1016/0022-2836(70)90277-9
Ottolenghi, S. et al. Gene deletion as the cause of α thalassaemia: The severe form of α thalassaemia is caused by a haemoglobin gene deletion. Nature 251, 389-392 (1974).
https://doi.org/10.1038/251389a0
Murray, J.M. et al. Linkage relationship of a cloned DNA sequence on the short arm of the X chromosome to Duchenne muscular dystrophy. Nature 300, 69-71 (1982). https://doi.org/10.1038/300069a0
Wainwright, B.J. et al. Localization of cystic fibrosis locus to human chromosome 7cen–q22. Nature 318, 384-385 (1985). https://doi.org/10.1038/318384a0
Estivill, X. et al. A candidate for the cystic fibrosis locus isolated by selection for methylation-free islands. Nature 326, 840-846 (1987). https://doi.org/10.1038/326840a0
Goate, A. et al. Segregation of a missense mutation in the amyloid precursor protein gene with familial Alzheimer's disease. Nature 349, 704-706 (1991). https://doi.org/10.1038/349704a0
Hardy, J. The discovery of Alzheimer-causing mutations in the APP gene and the formulation of the “amyloid cascade hypothesis”. FEBS Journal 284, 1040-1044 (2017). https://doi.org/10.1111/febs.14004
Williamson, R. Universal community carrier screening for cystic fibrosis? Nature Genetics 3, 195-201 (1993). https://doi.org/10.1038/ng0393-195
