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Human Genetics|June 24, 2006
Phenotypic characterization of Bbs4 null mice reveals age-dependent penetrance and variable expressivityErica R Eichers, Muhammad M Abd-El-Barr, Richard Paylor, et al.American Journal of Human Genetics|March 10, 2009
Mutations in SPATA7 cause Leber congenital amaurosis and juvenile retinitis pigmentosaHui Wang, Anneke I den Hollander, Yalda Moayedi, et al.American Journal of Human Genetics|March 26, 2004
Bietti crystalline corneoretinal dystrophy is caused by mutations in the novel gene CYP4V2Anren Li, Xiaodong Jiao, Francis L Munier, et al.Investigative Ophthalmology & Visual Science|June 27, 2006
Prevalence of disease-causing mutations in families with autosomal dominant retinitis pigmentosa: a screen of known genes in 200 familiesLori S Sullivan, Sara J Bowne, David G Birch, et al.Nature|October 2, 2003
Basal body dysfunction is a likely cause of pleiotropic Bardet-Biedl syndromeStephen J Ansley, Jose L Badano, Oliver E Blacque, et al.American Journal of Medical Genetics. Part A|May 5, 2021
A novel de novo intronic variant in ITPR1 causes Gillespie syndromeLaura Keehan, Ming-Ming Jiang, Xiaohui Li, et al.American Journal of Human Genetics|March 16, 2007
Characterization of Potocki-Lupski syndrome (dup(17)(p11.2p11.2)) and delineation of a dosage-sensitive critical interval that can convey an autism phenotypeLorraine Potocki, Weimin Bi, Diane Treadwell-Deering, et al.Cold Spring Harbor Molecular Case Studies|March 17, 2017
An exome sequencing study of Moebius syndrome including atypical cases reveals an individual with CFEOM3A and a TUBB3 mutationRonak M Patel, David Liu, Claudia Gonzaga-Jauregui, et al.American Journal of Human Genetics|December 13, 2006
Identification of a novel BBS gene (BBS12) highlights the major role of a vertebrate-specific branch of chaperonin-related proteins in Bardet-Biedl syndromeCorinne Stoetzel, Jean Muller, Virginie Laurier, et al.Nature Genetics|August 18, 2004
Mutations in a member of the Ras superfamily of small GTP-binding proteins causes Bardet-Biedl syndromeYanli Fan, Muneer A Esmail, Stephen J Ansley, et al.Pageof 6