Weisz Hubshman M et al.Whole-exome sequencing reveals POC5 as a novel gene associated with autosomal recessive retinitis pigmentosa. Hum Mol Genet 2018;27(4):614-24. PMID 29272404.
Hassan A et al.Adolescent idiopathic scoliosis associated POC5 mutation impairs cell cycle, cilia length and centrosome protein interactions. PLoS One 2019;14(3):e0213269. PMID 30845169.
Mathieu H et al.Prevalence of POC5 Coding Variants in French-Canadian and British AIS Cohort. Genes 2021;12(7):1032. PMID 34356048.
Vulto-van Silfhout AT et al. Bi-allelic loss-of-function variants in POC5 cause a syndromic retinal, endocrine, and neuromuscular ciliopathy.Genet Med. 2025 Oct;27(10):101513. PMID: 40590205.