Jos Jansen

Chapter 1 22 References 1. Ellis TH, Hofer JM, Timmerman-Vaughan GM, Coyne CJ, Hellens RP. Mendel, 150 years on. Trends in plant science. 2011;16(11):590-6. 2. Scriver CR. Garrod’s Croonian Lectures (1908) and the charter ‘Inborn Errors of Metabolism’: albinism, alkaptonuria, cystinuria, and pentosuria at age 100 in 2008. Journal of inherited metabolic disease. 2008;31(5):580-98. 3. Garrod AE. The incidence of alkaptonuria: a study in chemical individuality. 1902 [classical article]. The Yale journal of biology and medicine. 2002;75(4):221-31. 4. Watson JD, Crick FH. Genetical implications of the structure of deoxyribonucleic acid. Nature. 1953;171(4361):964-7. 5. Mullis K, Faloona F, Scharf S, Saiki R, Horn G, Erlich H. Specific enzymatic amplification of DNA in vitro: the polymerase chain reaction. Cold Spring Harbor symposia on quantitative biology. 1986;51 Pt 1:263-73. 6. McPherson JD, Marra M, Hillier L, Waterston RH, Chinwalla A, Wallis J, et al. A physical map of the human genome. Nature. 2001;409(6822):934-41. 7. Gusella JF, Wexler NS, Conneally PM, Naylor SL, Anderson MA, Tanzi RE, et al. A polymorphic DNA marker genetically linked to Huntington’s disease. Nature. 1983;306(5940):234-8. 8. Ng SB, Turner EH, Robertson PD, Flygare SD, Bigham AW, Lee C, et al. Targeted capture and massively parallel sequencing of 12 human exomes. Nature. 2009;461(7261):272-6. 9. Bamshad MJ, Ng SB, Bigham AW, Tabor HK, Emond MJ, Nickerson DA, et al. Exome sequencing as a tool for Mendelian disease gene discovery. Nature reviews Genetics. 2011;12(11):745-55. 10. Ng SB, Buckingham KJ, Lee C, Bigham AW, Tabor HK, Dent KM, et al. Exome sequencing identifies the cause of a mendelian disorder. Nature genetics. 2010;42(1):30-5. 11. Krawitz PM, Schweiger MR, Rodelsperger C, Marcelis C, Kolsch U, Meisel C, et al. Identity-by- descent filtering of exome sequence data identifies PIGV mutations in hyperphosphatasia mental retardation syndrome. Nature genetics. 2010;42(10):827-9. 12. Musunuru K, Pirruccello JP, Do R, Peloso GM, Guiducci C, Sougnez C, et al. Exome sequencing, ANGPTL3 mutations, and familial combined hypolipidemia. The New England journal of medicine. 2010;363(23):2220-7. 13. Yang Y, Muzny DM, Reid JG, Bainbridge MN, Willis A, Ward PA, et al. Clinical whole-exome sequencing for the diagnosis of mendelian disorders. The New England journal of medicine. 2013;369(16):1502-11. 14. Ohtsubo K, Marth JD. Glycosylation in cellular mechanisms of health and disease. Cell. 2006;126(5):855-67. 15. Freeze HH, Schachter H, Kinoshita T. Genetic Disorders of Glycosylation. In: rd, Varki A, Cummings RD, Esko JD, Stanley P, Hart GW, et al., editors. Essentials of Glycobiology. Cold Spring Harbor (NY)2015. p. 569-82. 16. Christianson JC, Ye Y. Cleaning up in the endoplasmic reticulum: ubiquitin in charge. Nature structural & molecular biology. 2014;21(4):325-35. 17. Brandizzi F, Barlowe C. Organization of the ER-Golgi interface for membrane traffic control. Nature reviews Molecular cell biology. 2013;14(6):382-92. 18. Farquhar MG, Palade GE. The Golgi apparatus: 100 years of progress and controversy. Trends in cell biology. 1998;8(1):2-10. 19. De Matteis MA, Luini A. Mendelian disorders of membrane trafficking. The New England journal of medicine. 2011;365(10):927-38.

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