Associated Papers
The Undiagnosed Diseases Network (UDN) Solves Ocular Syndromic Diagnostic Dilemmas.
Tinker RJ et al.
American Journal of Ophthalmology, 2025
40780579 (PubMed )
Supplement: NIHMS2116078-supplement-Supplementary_Material.pdf
Bi-allelic loss-of-function variants in POC5 cause a syndromic retinal, endocrine, and neuromuscular ciliopathy.
Vulto-van Silfhout AT et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2025
Prevalence of Individuals With Multiple Diagnosed Genetic Diseases in the Undiagnosed Diseases Network.
Gimeno AF et al.
American Journal of Medical Genetics. Part A, 2025
Differential Regulation of POC5 by ERα in Human Normal and Scoliotic Cells.
Hassan A et al.
Genes, 2023
Prevalence of POC5 Coding Variants in French-Canadian and British AIS Cohort.
Mathieu H et al.
Genes, 2021
Adolescent idiopathic scoliosis associated POC5 mutation impairs cell cycle, cilia length and centrosome protein interactions.
Hassan A et al.
Plos One, 2019
Common Variant of POC5 Is Associated With the Susceptibility of Adolescent Idiopathic Scoliosis.
Xu L et al.
Spine, 2018
Understanding Idiopathic Scoliosis: A New Zebrafish School of Thought.
Boswell CW et al.
Trends in Genetics : Tig, 2017
Functional variants of POC5 identified in patients with idiopathic scoliosis.
Patten SA et al.
The Journal of Clinical Investigation, 2015
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