Albertine Donker
General Discussion 329 9 al. Concordance between whole-exome sequencing and clinical Sanger sequencing: implications for patient care. Molecular genetics & genomic medicine. 2016;4(5):504- 512. 63. Zeng X, Lian T, Lin J, et al. Whole- exome sequencing improves genetic testing accuracy in pulmonary artery hypertension. Pulmonary circulation. 2018;8(2):2045894018763682. 64. Benyamin B, Esko T, Ried JS, et al. Novel loci affecting iron homeostasis and their effects in individuals at risk for hemochromatosis. Nature communications. 2014;5:4926. 65. Benyamin B, Ferreira MA, Willemsen G, et al. Common variants in TMPRSS6 are associated with iron status and erythrocyte volume. Nature genetics. 2009;41(11):1173- 1175. 66. Traglia M, Girelli D, Biino G, et al. Association of HFE and TMPRSS6 genetic variants with iron and erythrocyte parameters is only in part dependent on serum hepcidin concentrations. J Med Genet. 2011;48(9):629- 634. 67. Galesloot TE, Geurts-Moespot AJ, den Heijer M, et al. Associations of common variants in HFE and TMPRSS6 with iron parameters are independent of serum hepcidin in a general population: a replication study. J Med Genet. 2013;50(9):593-598. 68. de Los Campos G, Vazquez AI, Hsu S, Lello L. Complex-Trait Prediction in the Era of Big Data. Trends in genetics : TIG. 2018;34(10):746-754. 69. McCarthy MI, Abecasis GR, Cardon LR, et al. Genome-wide association studies for complex traits: consensus, uncertainty and challenges. Nature reviews Genetics. 2008;9(5):356-369. 70. Mackley MP, Fletcher B, Parker M, Watkins H, Ormondroyd E. Stakeholder views on secondary findings in whole-genome and whole-exome sequencing: a systematic review of quantitative and qualitative studies. Genetics in medicine : official journal of the American College of Medical Genetics. 2017;19(3):283-293. 71. Kleiderman E, Knoppers BM, Fernandez CV, et al. Returning incidental findings from genetic research to children: views of parents of children affected by rare diseases. Journal of medical ethics. 2014;40(10):691-696. 72. Serre D, Gurd S, Ge B, et al. Differential Allelic Expression in the Human Genome: A Robust Approach To Identify Genetic and Epigenetic <italic>Cis</italic>-Acting Mechanisms Regulating Gene Expression. PLoS Genet. 2008;4(2):e1000006. 73. Pasricha SR, Lim PJ, Duarte TL, et al. Hepcidin is regulated by promoter-associated histone acetylation and HDAC3. Nature communications. 2017;8(1):403. 74. Strom SP. Fundamentals of RNA Analysis on Biobanked Specimens. Methods in molecular biology (Clifton, NJ). 2019;1897:345-357. 75. Pagani A, Colucci S, Bocciardi R, et al. A new form of IRIDA due to combined heterozygous mutations of TMPRSS6 and ACVR1A encoding the BMP receptor ALK2. Blood. 2017;129(25):3392-3395. 76. SNP database. NCBI. https://www.ncbi.nlm. nih.gov/snp. Accessed 23 October2019. 77. Richards S, Aziz N, Bale S, et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genetics in medicine : official journal of the American College of Medical Genetics. 2015;17(5):405-424. 78. Alamut http://www.interactive -biosoftware. com/doc/alamut-visual/2.7/. Accessed 23 October 2019. 79. Silvestri L, Pagani A, Nai A, De Domenico I, Kaplan J, Camaschella C. The serine protease matriptase-2 (TMPRSS6) inhibits hepcidin activation by cleaving membrane hemojuvelin. Cell metabolism. 2008;8(6):502- 511. 80. Finberg KE, Whittlesey RL, Fleming MD, Andrews NC. Down-regulation of Bmp/
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