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• Comparative genomic analysis identifies an ADP-ribosylation factor-like gene as the cause of Bardet-Biedl syndrome (BBS3).

  Chiang AP, Nishimura D, Searby C, Elbedour K, Carmi R, Ferguson AL, Secrist J, Braun T, Casavant T, Stone EM, Sheffield VC. Chiang AP, et al. Am J Hum Genet. 2004 Sep;75(3):475-84. doi: 10.1086/423903. Epub 2004 Jul 16. Am J Hum Genet. 2004. PMID: 15258860 Free PMC article.
• Hydrometrocolpos, postaxial polydactyly, congenital heart disease, and anomalies of the gastrointestinal and genitourinary tracts: a rare autosomal recessive syndrome.

  Goecke T, Dopfer R, Huenges R, Conzelmann W, Feller A, Majewski F. Goecke T, et al. Eur J Pediatr. 1981 Jul;136(3):297-305. doi: 10.1007/BF00442998. Eur J Pediatr. 1981. PMID: 7262101
• Anorectal atresia and variants at predicted regulatory sites in candidate genes.

  Carter TC, Kay DM, Browne ML, Liu A, Romitti PA, Kuehn D, Conley MR, Caggana M, Druschel CM, Brody LC, Mills JL. Carter TC, et al. Ann Hum Genet. 2013 Jan;77(1):31-46. doi: 10.1111/j.1469-1809.2012.00734.x. Epub 2012 Nov 6. Ann Hum Genet. 2013. PMID: 23127126 Free PMC article.
• Hydrometrocolpos and polydactyly: a common neonatal presentation of Bardet-Biedl and McKusick-Kaufman syndromes.

  David A, Bitoun P, Lacombe D, Lambert JC, Nivelon A, Vigneron J, Verloes A. David A, et al. J Med Genet. 1999 Aug;36(8):599-603. J Med Genet. 1999. PMID: 10465109 Free PMC article.
• Bbs2-null mice have neurosensory deficits, a defect in social dominance, and retinopathy associated with mislocalization of rhodopsin.

  Nishimura DY, Fath M, Mullins RF, Searby C, Andrews M, Davis R, Andorf JL, Mykytyn K, Swiderski RE, Yang B, Carmi R, Stone EM, Sheffield VC. Nishimura DY, et al. Proc Natl Acad Sci U S A. 2004 Nov 23;101(47):16588-93. doi: 10.1073/pnas.0405496101. Epub 2004 Nov 11. Proc Natl Acad Sci U S A. 2004. PMID: 15539463 Free PMC article.