Associated Papers
Severe Joubert syndrome in family with homozygous POC1B p.Arg106Pro variant is due to a co-inherited deep-intronic mutation in the neighboring CEP290 gene.
Betz C et al.
Hgg Advances, 2025
Frequency and Genetic Spectrum of Inherited Retinal Dystrophies in a Large Dutch Pediatric Cohort: The RD5000 Consortium.
Heutinck PAT et al.
Investigative Ophthalmology & Visual Science, 2024
A mild form of POC1B-associated retinal dystrophy with relatively preserved cone system function.
Hayashi T et al.
Documenta Ophthalmologica. Advances in Ophthalmology, 2023
Homozygous frameshift variant in POC1B causes male infertility with oligoasthenoteratozoospermia in human and mice.
Hua J et al.
Human Molecular Genetics, 2023
The genetic landscape of inherited retinal dystrophies in Arabs.
Jaffal L et al.
Bmc Medical Genomics, 2023
Clinical-genetic findings in a group of subjects with macular dystrophies due to mutations in rare inherited retinopathy genes.
Zenteno JC et al.
Graefe's Archive for Clinical and Experimental Ophthalmology = Albrecht Von Graefes Archiv Fur Klinische Und Experimentelle Ophthalmologie, 2023
Genetic characteristics of 234 Italian patients with macular and cone/cone-rod dystrophy.
Falsini B et al.
Scientific Reports, 2022
Clinical Characteristics of POC1B-Associated Retinopathy and Assignment of Pathogenicity to Novel Deep Intronic and Non-Canonical Splice Site Variants.
Weisschuh N et al.
International Journal of Molecular Sciences, 2021
Phenotypical Characteristics of POC1B-Associated Retinopathy in Japanese Cohort: Cone Dystrophy With Normal Funduscopic Appearance.
Kameya S et al.
Investigative Ophthalmology & Visual Science, 2019
Estimating dispensable content in the human interactome.
Ghadie M et al.
Nature Communications, 2019
Insights into photoreceptor ciliogenesis revealed by animal models.
Baehr W et al.
Progress in Retinal and Eye Research, 2019
Case of cone dystrophy with normal fundus appearance associated with biallelic POC1B variants.
Kominami A et al.
Ophthalmic Genetics, 2018
Clinical and genetic characteristics of 251 consecutive patients with macular and cone/cone-rod dystrophy.
Birtel J et al.
Scientific Reports, 2018
LINE-1 Mediated Insertion into Poc1a (Protein of Centriole 1 A) Causes Growth Insufficiency and Male Infertility in Mice.
Geister KA et al.
Plos Genetics, 2015
Novel recessive cone-rod dystrophy caused by POC1B mutation.
Durlu YK et al.
Jama Ophthalmology, 2014
Mutation of POC1B in a severe syndromic retinal ciliopathy.
Beck BB et al.
Human Mutation, 2014
Disruption of the basal body protein POC1B results in autosomal-recessive cone-rod dystrophy.
Roosing S et al.
American Journal of Human Genetics, 2014