Associated Papers
18-Years of single-centre DNA testing in over 7000 index cases with inherited retinal dystrophies and optic neuropathies.
Kiel C et al.
Scientific Reports, 2024
39462066 (PubMed )
Supplement: 41598_2024_77014_MOESM2_ESM.xlsx › unsolved_patients
Homozygous frameshift variant in POC1B causes male infertility with oligoasthenoteratozoospermia in human and mice.
Hua J et al.
Human Molecular Genetics, 2023
Corrigendum: Analysis of Pathogenic Pseudoexons Reveals Novel Mechanisms Driving Cryptic Splicing.
Keegan NP et al.
Frontiers in Genetics, 2022
35754842 (PubMed )
Supplement: DataSheet1.xlsx › Table_S1
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
Analysis of Pathogenic Pseudoexons Reveals Novel Mechanisms Driving Cryptic Splicing.
Keegan NP et al.
Frontiers in Genetics, 2021
35140743 (PubMed )
Supplement: DataSheet1.xlsx › Table_S1
Phenotypical Characteristics of POC1B-Associated Retinopathy in Japanese Cohort: Cone Dystrophy With Normal Funduscopic Appearance.
Kameya S et al.
Investigative Ophthalmology & Visual Science, 2019
Case of cone dystrophy with normal fundus appearance associated with biallelic POC1B variants.
Kominami A et al.
Ophthalmic Genetics, 2018
Disruption of the basal body protein POC1B results in autosomal-recessive cone-rod dystrophy.
Roosing S et al.
American Journal of Human Genetics, 2014
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