An early onset cone dystrophy due to CEP290 mutation: a case report

Clinical Characteristics of POC1B-Associated Retinopathy and Assignment of Pathogenicity to Novel Deep Intronic and Non-Canonical Splice Site Variants

(2021) Nicole Weisschuh et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

A Mild Phenotype Caused by Two Novel Compound Heterozygous Mutations in CEP290

(2020) Agnieszka Rafalska et al.   Genes

Das phänotypische Spektrum der Augenveränderungen bei CEP290-Sequenzvariationen

(2019) Markus Preising et al.   KLINISCHE MONATSBLATTER FUR AUGENHEILKUNDE

CEP290 mutation spectrum and delineation of the associated phenotype in a large German cohort: a monocentric study

(2019) Britta Feldhaus et al.   AMERICAN JOURNAL OF OPHTHALMOLOGY

A Rare Form of Retinal Dystrophy Caused by Hypomorphic Nonsense Mutations in CEP290

(2017) Susanne Roosing et al.   Genes

Results at 2 Years after Gene Therapy for RPE65-Deficient Leber Congenital Amaurosis and Severe Early-Childhood–Onset Retinal Dystrophy

(2016) Richard G. Weleber et al.   OPHTHALMOLOGY

Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity

(2015) R Bachmann-Gagescu et al.   JOURNAL OF MEDICAL GENETICS

Potential involvement of more than one locus in trait manifestation for individuals with Leber congenital amaurosis

(2010) Wojciech Wiszniewski et al.   HUMAN GENETICS

CEP290, a gene with many faces: mutation overview and presentation of CEP290base

(2010) Frauke Coppieters et al.   HUMAN MUTATION

Genetic Etiology and Clinical Consequences of Complete and Incomplete Achromatopsia

(2009) Alberta A.H.J. Thiadens et al.   OPHTHALMOLOGY