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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.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 Medical Genetics. Part A|January 8, 2005
Clinical and genetic epidemiology of Bardet-Biedl syndrome in Newfoundland: a 22-year prospective, population-based, cohort studySusan J Moore, Jane S Green, Yanli Fan, et al.Nature Genetics|March 6, 2012
Mutations in axonemal dynein assembly factor DNAAF3 cause primary ciliary dyskinesiaHannah M Mitchison, Miriam Schmidts, Niki T Loges, et al.Journal of Medical Genetics|July 28, 2018
Rapid Paediatric Sequencing (RaPS): comprehensive real-life workflow for rapid diagnosis of critically ill childrenLamia Mestek-Boukhibar, Emma Clement, Wendy D Jones, et al.Cells|November 24, 2023
De-Suppression of Mesenchymal Cell Identities and Variable Phenotypic Outcomes Associated with Knockout of Bbs1Grace Mercedes Freke, Tiago Martins, Rosalind Jane Davies, et al.Human Molecular Genetics|January 14, 2014
Mutation of SALL2 causes recessive ocular coloboma in humans and miceDaniel Kelberman, Lily Islam, Jörn Lakowski, et al.Plos Biology|October 9, 2019
Correction: Loss of Bardet-Biedl syndrome proteins causes synaptic aberrations in principal neuronsNaila Haq, Christoph Schmidt-Hieber, Fernando J Sialana, et al.American Journal of Human Genetics|May 25, 2010
Cranioectodermal Dysplasia, Sensenbrenner syndrome, is a ciliopathy caused by mutations in the IFT122 geneJoanna Walczak-Sztulpa, Jonathan Eggenschwiler, Daniel Osborn, et al.Plos Biology|September 4, 2019
Loss of Bardet-Biedl syndrome proteins causes synaptic aberrations in principal neuronsNaila Haq, Christoph Schmidt-Hieber, Fernando J Sialana, et al.Pageof 11