Associated Papers
Production and characterisation of four Joubert syndrome patient-derived induced pluripotent stem cell (iPSC) lines with mutations in either RPGRIP1L or CPLANE1 genes.
Pollara L et al.
Stem Cell Research, 2025
Clinical application of next generation sequencing for Mendelian disease diagnosis in the Iranian population.
Abolhassani A et al.
Npj Genomic Medicine, 2024
38374194 (PubMed )
Supplement: 41525_2024_393_MOESM3_ESM.xlsx › Supplementary_Table_8
Chromosomal microarray and exome sequencing in unexplained early infantile epileptic encephalopathies in a highly consanguineous population.
Turkdogan D et al.
The International Journal of Neuroscience, 2023
Super-resolution microscopy reveals that disruption of ciliary transition-zone architecture causes Joubert syndrome.
Shi X et al.
Nature Cell Biology, 2017
Hypomorphism for RPGRIP1L, a ciliary gene vicinal to the FTO locus, causes increased adiposity in mice.
Stratigopoulos G et al.
Cell Metabolism, 2014
Mutations in the gene encoding the basal body protein RPGRIP1L, a nephrocystin-4 interactor, cause Joubert syndrome.
Arts HH et al.
Nature Genetics, 2007
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