Associated Papers
CAKUT variants in PRPF8, DYRK2, and CEP78: implications for splicing and ciliogenesis.
Merz LM et al.
Biorxiv : the Preprint Server for Biology, 2025
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 › solved_patients
Exploring the diverse clinical and variant spectrum of CEP78-associated syndrome: Novel pathogenic variants identified in a case series.
Zhai Y et al.
American Journal of Medical Genetics. Part A, 2024
Optimised, Broad NGS Panel for Inherited Eye Diseases to Diagnose 1000 Patients in Poland.
Matczyńska E et al.
Biomedicines, 2024
38927562 (PubMed )
Supplement: biomedicines-12-01355-s001.zip › Table_S2_Patients_and_variants.xlsx › merged_variants_and_patients_co
Towards Uncovering the Role of Incomplete Penetrance in Maculopathies through Sequencing of 105 Disease-Associated Genes.
Hitti-Malin RJ et al.
Biomolecules, 2024
38540785 (PubMed )
Supplement: biomolecules-14-00367-s001.zip › Supplementary_Table_S10-Mono-allelic_variants_in_probands_considered_not_solved.xlsx › Sheet1
MAGI-ACMG: Algorithm for the Classification of Variants According to ACMG and ACGS Recommendations.
Cristofoli F et al.
Genes, 2023
37628650 (PubMed )
Supplement: genes-14-01600-s001.zip › genes-2481925-supplementary.xlsx › totale
Absence of CEP78 causes photoreceptor and sperm flagella impairments in mice and a human individual.
Zhu T et al.
Elife, 2023
Genetic epidemiology of inherited retinal diseases in a large patient cohort followed at a single center in Italy.
Karali M et al.
Scientific Reports, 2022
36460718 (PubMed )
Supplement: 41598_2022_24636_MOESM2_ESM.xlsx › Supplementary_Table_S1
Loss-of-function mutations in CEP78 cause male infertility in humans and mice.
Zhang X et al.
Science Advances, 2022
A novel frameshift variant in CEP78 associated with nonsyndromic retinitis pigmentosa, and a review of CEP78-related phenotypes.
Lähteenoja L et al.
Ophthalmic Genetics, 2022
CEP78 functions downstream of CEP350 to control biogenesis of primary cilia by negatively regulating CP110 levels.
Gonçalves AB et al.
Elife, 2021
Functional characterization of the first missense variant in CEP78, a founder allele associated with cone-rod dystrophy, hearing loss, and reduced male fertility.
Ascari G et al.
Human Mutation, 2020
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