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• Intergenerational and intrafamilial phenotypic variability in 22q11.2 deletion syndrome subjects.

  Cirillo E, Giardino G, Gallo V, Puliafito P, Azzari C, Bacchetta R, Cardinale F, Cicalese MP, Consolini R, Martino S, Martire B, Molinatto C, Plebani A, Scarano G, Soresina A, Cancrini C, Rossi P, Digilio MC, Pignata C. Cirillo E, et al. BMC Med Genet. 2014 Jan 2;15:1. doi: 10.1186/1471-2350-15-1. BMC Med Genet. 2014. PMID: 24383682 Free PMC article.
• A rare association of interrupted aortic arch type C and microdeletion 22q11.2.

  Cuturilo G, Drakulic D, Stevanovic M, Jovanovic I, Djukic M, Miletic-Grkovic S, Atanaskovic-Markovic M. Cuturilo G, et al. Eur J Pediatr. 2008 Oct;167(10):1195-8. doi: 10.1007/s00431-007-0632-7. Epub 2007 Nov 27. Eur J Pediatr. 2008. PMID: 18040716
• Further delineation of the 15q13 microdeletion and duplication syndromes: a clinical spectrum varying from non-pathogenic to a severe outcome.

  van Bon BW, Mefford HC, Menten B, Koolen DA, Sharp AJ, Nillesen WM, Innis JW, de Ravel TJ, Mercer CL, Fichera M, Stewart H, Connell LE, Ounap K, Lachlan K, Castle B, Van der Aa N, van Ravenswaaij C, Nobrega MA, Serra-Juhé C, Simonic I, de Leeuw N, Pfundt R, Bongers EM, Baker C, Finnemore P, Huang S, Maloney VK, Crolla JA, van Kalmthout M, Elia M, Vandeweyer G, Fryns JP, Janssens S, Foulds N, Reitano S, Smith K, Parkel S, Loeys B, Woods CG, Oostra A, Speleman F, Pereira AC, Kurg A, Willatt L, Knight SJ, Vermeesch JR, Romano C, Barber JC, Mortier G, Pérez-Jurado LA, Kooy F, Brunner HG, Eichler EE, Kleefstra T, de Vries BB. van Bon BW, et al. J Med Genet. 2009 Aug;46(8):511-23. doi: 10.1136/jmg.2008.063412. Epub 2009 Apr 15. J Med Genet. 2009. PMID: 19372089 Free PMC article.
• Prevalence of selected genomic deletions and duplications in a French-Canadian population-based sample of newborns.

  Tucker T, Giroux S, Clément V, Langlois S, Friedman JM, Rousseau F. Tucker T, et al. Mol Genet Genomic Med. 2013 Jul;1(2):87-97. doi: 10.1002/mgg3.12. Epub 2013 May 21. Mol Genet Genomic Med. 2013. PMID: 24498606 Free PMC article.
• The DiGeorge anomaly.

  Hong R. Hong R. Clin Rev Allergy Immunol. 2001 Feb;20(1):43-60. doi: 10.1385/CRIAI:20:1:43. Clin Rev Allergy Immunol. 2001. PMID: 11269228 Review.