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• Cryptic genomic rearrangements in three patients with 46,XY disorders of sex development.

  Igarashi M, Dung VC, Suzuki E, Ida S, Nakacho M, Nakabayashi K, Mizuno K, Hayashi Y, Kohri K, Kojima Y, Ogata T, Fukami M. Igarashi M, et al. PLoS One. 2013 Jul 8;8(7):e68194. doi: 10.1371/journal.pone.0068194. Print 2013. PLoS One. 2013. PMID: 23861871 Free PMC article.
• SNP array mapping of chromosome 20p deletions: genotypes, phenotypes, and copy number variation.

  Kamath BM, Thiel BD, Gai X, Conlin LK, Munoz PS, Glessner J, Clark D, Warthen DM, Shaikh TH, Mihci E, Piccoli DA, Grant SF, Hakonarson H, Krantz ID, Spinner NB. Kamath BM, et al. Hum Mutat. 2009 Mar;30(3):371-8. doi: 10.1002/humu.20863. Hum Mutat. 2009. PMID: 19058200 Free PMC article.
• Spectrum and frequency of jagged1 (JAG1) mutations in Alagille syndrome patients and their families.

  Krantz ID, Colliton RP, Genin A, Rand EB, Li L, Piccoli DA, Spinner NB. Krantz ID, et al. Am J Hum Genet. 1998 Jun;62(6):1361-9. doi: 10.1086/301875. Am J Hum Genet. 1998. PMID: 9585603 Free PMC article.
• [Endocrinologic and metabolic complications of Alagille syndrome].

  Hofbauer LC, Mrozek-Lasota A, Jelinek T, Schworm HD, Zimmermann D, Heufelder AE. Hofbauer LC, et al. Med Klin (Munich). 1997 Sep 15;92(9):528-33. doi: 10.1007/BF03044928. Med Klin (Munich). 1997. PMID: 9411201 German.
• Alagille syndrome.

  Krantz ID, Piccoli DA, Spinner NB. Krantz ID, et al. J Med Genet. 1997 Feb;34(2):152-7. doi: 10.1136/jmg.34.2.152. J Med Genet. 1997. PMID: 9039994 Free PMC article. Review.