Associated Papers
The power of five - inositol polyphosphate 5-phosphatase gene mutations at the intersection of development and disease.
McGrath MJ et al.
Febs Letters, 2025
Regulation of INPP5E in Ciliogenesis, Development, and Disease.
Hakeem A et al.
International Journal of Biological Sciences, 2025
Pathogenic variation underlying rare diseases in an Arab population: Implications for screening programs.
Jain R et al.
Genetics in Medicine Open, 2025
Utilization of automated cilia analysis to characterize novel INPP5E variants in patients with non-syndromic retinitis pigmentosa.
Whiting KR et al.
European Journal of Human Genetics : Ejhg, 2024
Potential Involvements of Cilia-Centrosomal Genes in Primary Congenital Glaucoma.
Pyatla G et al.
International Journal of Molecular Sciences, 2024
The genetic landscape of inherited retinal dystrophies in Arabs.
Jaffal L et al.
Bmc Medical Genomics, 2023
The Role of Primary Cilia-Associated Phosphoinositide Signaling in Development.
Chen C et al.
Journal of Developmental Biology, 2022
Broadening INPP5E phenotypic spectrum: detection of rare variants in syndromic and non-syndromic IRD.
Sangermano R et al.
Npj Genomic Medicine, 2021
Autophagosome-lysosome fusion in neurons requires INPP5E, a protein associated with Joubert syndrome.
Hasegawa J et al.
The Embo Journal, 2016
Role of reverse phenotyping in interpretation of next generation sequencing data and a review of INPP5E related disorders.
de Goede C et al.
European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society, 2016
Mutation spectrum of Joubert syndrome and related disorders among Arabs.
Ben-Salem S et al.
Human Genome Variation, 2014
Phenotypic spectrum and prevalence of INPP5E mutations in Joubert syndrome and related disorders.
Travaglini L et al.
European Journal of Human Genetics : Ejhg, 2013
Mutations of a country: a mutation review of single gene disorders in the United Arab Emirates (UAE).
Al-Gazali L et al.
Human Mutation, 2010
Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies.
Bielas SL et al.
Nature Genetics, 2009