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Anderson, Beverley H; Kasher, Paul R; Mayer, Josephine; Szynkiewicz, Marcin; Jenkinson, Emma M; Bhaskar, Sanjeev S; Urquhart, Jill E; Daly, Sarah B; Dickerson, Jonathan E; O'Sullivan, James; Leibundgut, Elisabeth Oppliger; Muter, Joanne; Abdel-Salem, Ghada M H; Babul-Hirji, Riyana; Baxter, Peter; Berger, Andrea; Bonafé, Luisa; Brunstom-Hernandez, Janice E; Buckard, Johannes A; Chitayat, David; ... (2012). Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plus. Nature genetics, 44(3), pp. 338-42. New York, N.Y.: Nature America 10.1038/ng.1084
Mefford, Heather C; Sharp, Andrew J; Baker, Carl; Itsara, Andy; Jiang, Zhaoshi; Buysse, Karen; Huang, Shuwen; Maloney, Viv K; Crolla, John A; Baralle, Diana; Collins, Amanda; Mercer, Catherine; Norga, Koen; de Ravel, Thomy; Devriendt, Koen; Bongers, Ernie M H F; de Leeuw, Nicole; Reardon, William; Gimelli, Stefania; Bena, Frederique; ... (2008). Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes. New England journal of medicine NEJM, 359(16), pp. 1685-99. Waltham, Mass.: Massachusetts Medical Society MMS 10.1056/NEJMoa0805384
