Associated Papers
Regulation of INPP5E in Ciliogenesis, Development, and Disease.
Hakeem A et al.
International Journal of Biological Sciences, 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
38806661 (PubMed )
Supplement: 41431_2024_1627_MOESM2_ESM.xlsx › Sheet1
Implementation of exome sequencing in fetal diagnostics-Data and experiences from a tertiary center in Denmark.
Becher N et al.
Acta Obstetricia Et Gynecologica Scandinavica, 2020
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
Whole-exome resequencing distinguishes cystic kidney diseases from phenocopies in renal ciliopathies.
Gee HY et al.
Kidney International, 2014
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