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Alter, Blanche P; Rosenberg, Philip S; Giri, Neelam; Baerlocher, Gabriela M; Lansdorp, Peter M; Savage, Sharon A (2012). Telomere length is associated with disease severity and declines with age in dyskeratosis congenita. Haematologica - the hematology journal, 97(3), pp. 353-9. Pavia: Ferrata-Storti Foundation 10.3324/haematol.2011.055269
Savage, Sharon A; Giri, Neelam; Baerlocher, Gabriela M; Orr, Nick; Lansdorp, Peter M; Alter, Blanche P (2008). TINF2, a component of the shelterin telomere protection complex, is mutated in dyskeratosis congenita. American journal of human genetics, 82(2), pp. 501-9. New York, N.Y.: Cell Press 10.1016/j.ajhg.2007.10.004
Alter, Blanche P; Baerlocher, Gabriela M; Savage, Sharon A; Chanock, Stephen J; Weksler, Babette B; Willner, Judith P; Peters, June A; Giri, Neelam; Lansdorp, Peter M (2007). Very short telomere length by flow fluorescence in situ hybridization identifies patients with dyskeratosis congenita. Blood, 110(5), pp. 1439-47. Washington, D.C.: American Society of Hematology 10.1182/blood-2007-02-075598