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Nature Genetics|January 19, 2010
AHI1 is required for photoreceptor outer segment development and is a modifier for retinal degeneration in nephronophthisisCarrie M Louie, Gianluca Caridi, Vanda S Lopes, et al.Human Mutation|October 30, 2013
A homozygous PDE6D mutation in Joubert syndrome impairs targeting of farnesylated INPP5E protein to the primary ciliumSophie Thomas, Kevin J Wright, Stéphanie Le Corre, et al.American Journal of Human Genetics|August 5, 2008
Mutations in the cilia gene ARL13B lead to the classical form of Joubert syndromeVincent Cantagrel, Jennifer L Silhavy, Stephanie L Bielas, et al.Biorxiv : the Preprint Server for Biology|March 23, 2026
Massive-scale single-nucleus multi-omics identifies novel rare noncoding drivers of Parkinson's diseaseShreya Menon, Adam W Turner, Serena H Chang, et al.Human Mutation|March 17, 2010
Novel TMEM67 mutations and genotype-phenotype correlates in meckelin-related ciliopathiesMiriam Iannicelli, Francesco Brancati, Soumaya Mougou-Zerelli, et al.Current Issues in Molecular Biology|May 15, 2023
Distribution of Exonic Variants in Glycogen Synthesis and Catabolism Genes in Late Onset Pompe Disease (LOPD)Paola De Filippi, Edoardo Errichiello, Antonio Toscano, et al.Human Mutation|July 22, 2014
Mutation of POC1B in a severe syndromic retinal ciliopathyBodo B Beck, Jennifer B Phillips, Malte P Bartram, et al.Journal of Neurology, Neurosurgery, and Psychiatry|October 25, 2023
Are patients with GBA-Parkinson disease good candidates for deep brain stimulation? A longitudinal multicentric study on a large Italian cohortMicol Avenali, Roberta Zangaglia, Giada Cuconato, et al.Human Genetics|November 20, 2014
Oral-facial-digital syndrome type VI: is C5orf42 really the major gene?Marta Romani, Francesca Mancini, Alessia Micalizzi, et al.JAMA Ophthalmology|December 4, 2025
Early-Onset Retinopathy in Patients With Variants in SLC6A6 Leading to Impaired Taurine TransportMukhtar Ullah, Atta Ur Rehman, Madhur Shetty, et al.Pageof 36