Cited by

• Identification of a novel transcript disrupted by a balanced translocation associated with DiGeorge syndrome.

  Sutherland HF, Wadey R, McKie JM, Taylor C, Atif U, Johnstone KA, Halford S, Kim UJ, Goodship J, Baldini A, Scambler PJ. Sutherland HF, et al. Am J Hum Genet. 1996 Jul;59(1):23-31. Am J Hum Genet. 1996. PMID: 8659529 Free PMC article.
• Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: a European collaborative study.

  Ryan AK, Goodship JA, Wilson DI, Philip N, Levy A, Seidel H, Schuffenhauer S, Oechsler H, Belohradsky B, Prieur M, Aurias A, Raymond FL, Clayton-Smith J, Hatchwell E, McKeown C, Beemer FA, Dallapiccola B, Novelli G, Hurst JA, Ignatius J, Green AJ, Winter RM, Brueton L, Brøndum-Nielsen K, Scambler PJ, et al. Ryan AK, et al. J Med Genet. 1997 Oct;34(10):798-804. doi: 10.1136/jmg.34.10.798. J Med Genet. 1997. PMID: 9350810 Free PMC article.
• Defining new guidelines for screening the 22q11.2 deletion based on a clinical and dysmorphologic evaluation of 194 individuals and review of the literature.

  Monteiro FP, Vieira TP, Sgardioli IC, Molck MC, Damiano AP, Souza J, Monlleó IL, Fontes MI, Fett-Conte AC, Félix TM, Leal GF, Ribeiro EM, Banzato CE, Dantas Cde R, Lopes-Cendes I, Gil-da-Silva-Lopes VL. Monteiro FP, et al. Eur J Pediatr. 2013 Jul;172(7):927-45. doi: 10.1007/s00431-013-1964-0. Epub 2013 Feb 26. Eur J Pediatr. 2013. PMID: 23440478
• A Hirschsprung disease locus at 22q11?

  Kerstjens-Frederikse WS, Hofstra RM, van Essen AJ, Meijers JH, Buys CH. Kerstjens-Frederikse WS, et al. J Med Genet. 1999 Mar;36(3):221-4. J Med Genet. 1999. PMID: 10204849 Free PMC article.
• EYA1 mutation in a newborn female presenting with cardiofacial syndrome.

  Shimasaki N, Watanabe K, Hara M, Kosaki K. Shimasaki N, et al. Pediatr Cardiol. 2004 Jul-Aug;25(4):411-3. doi: 10.1007/s00246-003-0271-3. Pediatr Cardiol. 2004. PMID: 15493068