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The Journal of Infectious Diseases|July 13, 2010
Effect of host genetics on the development of cytomegalovirus retinitis in patients with AIDSEfe Sezgin, Douglas A Jabs, Sher L Hendrickson, et al.Nature|December 6, 2005
Dissection of epistasis in oligogenic Bardet-Biedl syndromeJose L Badano, Carmen C Leitch, Stephen J Ansley, et al.Investigative Ophthalmology & Visual Science|February 2, 2013
Mutations in the X-linked retinitis pigmentosa genes RPGR and RP2 found in 8.5% of families with a provisional diagnosis of autosomal dominant retinitis pigmentosaJennifer D Churchill, Sara J Bowne, Lori S Sullivan, et al.Human Molecular Genetics|July 3, 2003
Heterozygous mutations in BBS1, BBS2 and BBS6 have a potential epistatic effect on Bardet-Biedl patients with two mutations at a second BBS locusJose L Badano, Jun Chul Kim, Bethan E Hoskins, et al.Investigative Ophthalmology & Visual Science|July 29, 2003
Late-onset autosomal dominant macular dystrophy with choroidal neovascularization and nonexudative maculopathy associated with mutation in the RDS geneShahrokh C Khani, Athanasios J Karoukis, Joyce E Young, et al.American Journal of Human Genetics|April 5, 2003
Genetic interaction of BBS1 mutations with alleles at other BBS loci can result in non-Mendelian Bardet-Biedl syndromePhilip L Beales, Jose L Badano, Alison J Ross, et al.Molecular Genetics and Metabolism|February 22, 2008
Generalized metabolic bone disease in Neurofibromatosis type INicola Brunetti-Pierri, Stephen B Doty, John Hicks, et al.Molecular Vision|January 6, 2012
Exome capture sequencing identifies a novel mutation in BBS4Hui Wang, Xianfeng Chen, Lynn Dudinsky, et al.Nature Genetics|March 11, 2008
Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndromeCarmen C Leitch, Norann A Zaghloul, Erica E Davis, et al.American Journal of Human Genetics|August 4, 2016
Copy-Number Variation Contributes to the Mutational Load of Bardet-Biedl SyndromeAnna Lindstrand, Stephan Frangakis, Claudia M B Carvalho, et al.Pageof 6