Associated Papers
An early onset cone dystrophy due to CEP290 mutation: a case report.
Binder A et al.
Documenta Ophthalmologica. Advances in Ophthalmology, 2023
Challenges for the implementation of next generation sequencing-based expanded carrier screening: Lessons learned from the ciliopathies.
Vintschger E et al.
European Journal of Human Genetics : Ejhg, 2023
36550190 (PubMed )
Supplement: 41431_2022_1267_MOESM2_ESM.xlsx › all_variants_pooled
[The Phenotypic Spectrum of Ophthalmic Changes in CEP290 Mutations].
Preising MN et al.
Klinische Monatsblatter Fur Augenheilkunde, 2019
A Rare Form of Retinal Dystrophy Caused by Hypomorphic Nonsense Mutations in CEP290.
Roosing S et al.
Genes, 2017
Identification of 99 novel mutations in a worldwide cohort of 1,056 patients with a nephronophthisis-related ciliopathy.
Halbritter J et al.
Human Genetics, 2013
High-throughput mutation analysis in patients with a nephronophthisis-associated ciliopathy applying multiplexed barcoded array-based PCR amplification and next-generation sequencing.
Halbritter J et al.
Journal of Medical Genetics, 2012
Potential involvement of more than one locus in trait manifestation for individuals with Leber congenital amaurosis.
Wiszniewski W et al.
Human Genetics, 2011
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