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American Journal of Human Genetics|May 23, 2002
BBS4 is a minor contributor to Bardet-Biedl syndrome and may also participate in triallelic inheritanceNicholas Katsanis, Erica R Eichers, Stephen J Ansley, et al.Frontiers in Pediatrics|June 6, 2018
The KOUNCIL Consortium: From Genetic Defects to Therapeutic Development for NephronophthisisKirsten Y Renkema, Rachel H Giles, Marc R Lilien, et al.American Journal of Medical Genetics. Part A|February 7, 2014
Intellectual disability, coarse face, relative macrocephaly, and cerebellar hypotrophy in two sistersSérgio B Sousa, Fabiana Ramos, Paula Garcia, et al.Plos One|February 8, 2014
Loss of FTO antagonises Wnt signaling and leads to developmental defects associated with ciliopathiesDaniel P S Osborn, Rosa Maria Roccasecca, Fiona McMurray, et al.European Journal of Human Genetics : EJHG|December 16, 2010
Arrayed primer extension technology simplifies mutation detection in Bardet-Biedl and Alström syndromeInes Pereiro, Bethan E Hoskins, Jan D Marshall, et al.Molecular Syndromology|April 13, 2019
An FDA-Approved Drug Screen for Compounds Influencing Craniofacial Skeletal Development and CraniosynostosisMarian Seda, Maartje Geerlings, Peggy Lim, et al.Nature|December 6, 2005
Dissection of epistasis in oligogenic Bardet-Biedl syndromeJose L Badano, Carmen C Leitch, Stephen J Ansley, et al.Nature Genetics|August 24, 2004
Loss of BBS proteins causes anosmia in humans and defects in olfactory cilia structure and function in the mouseHeather M Kulaga, Carmen C Leitch, Erica R Eichers, et al.European Journal of Medical Genetics|September 6, 2017
Exome sequencing for the differential diagnosis of ciliary chondrodysplasias: Example of a WDR35 mutation case and review of the literatureDinu Antony, Narayanan Nampoory, Chiara Bacchelli, 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.Pageof 11