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The European Respiratory Journal|April 2, 2021
Higher throughput drug screening for rare respiratory diseases: readthrough therapy in primary ciliary dyskinesiaDani Do Hyang Lee, Daniela Cardinale, Ersilia Nigro, et al.Human Molecular Genetics|March 24, 2016
Heterozygous KIDINS220/ARMS nonsense variants cause spastic paraplegia, intellectual disability, nystagmus, and obesityDragana J Josifova, Glen R Monroe, Federico Tessadori, et al.Journal of Medical Genetics|November 9, 2013
Combined exome and whole-genome sequencing identifies mutations in ARMC4 as a cause of primary ciliary dyskinesia with defects in the outer dynein armAlexandros Onoufriadis, Amelia Shoemark, Mustafa M Munye, 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.The Journal of Clinical Investigation|March 27, 2012
Combining Cep290 and Mkks ciliopathy alleles in mice rescues sensory defects and restores ciliogenesisRivka A Rachel, Helen L May-Simera, Shobi Veleri, et al.Nature Medicine|September 4, 2012
Gene therapy rescues cilia defects and restores olfactory function in a mammalian ciliopathy modelJeremy C McIntyre, Erica E Davis, Ariell Joiner, et al.Cell|May 13, 2004
Comparative genomics identifies a flagellar and basal body proteome that includes the BBS5 human disease geneJin Billy Li, Jantje M Gerdes, Courtney J Haycraft, et al.Nature Genetics|September 20, 2005
Disruption of Bardet-Biedl syndrome ciliary proteins perturbs planar cell polarity in vertebratesAlison J Ross, Helen May-Simera, Erica R Eichers, et al.Brain : a Journal of Neurology|September 12, 2013
ARNT2 mutation causes hypopituitarism, post-natal microcephaly, visual and renal anomaliesEmma A Webb, Angham AlMutair, Daniel Kelberman, et al.Medrxiv : the Preprint Server for Health Sciences|March 3, 2023
IFT74 variants cause skeletal ciliopathy and motile cilia defects in mice and humansZeineb Bakey, Oscar A Cabrera, Julia Hoefele, et al.Pageof 11