Associated Papers
Measuring X-Chromosome inactivation skew for X-linked diseases with adaptive nanopore sequencing.
Gocuk SA et al.
Genome Research, 2024
Using Goldmann Visual Field Volume to Track Disease Progression in Choroideremia.
DeLuca AP et al.
Ophthalmology Science, 2023
38025158 (PubMed )
Supplement: mmc1.pdf
CHM mutation spectrum and disease: An update at the time of human therapeutic trials.
Zeitz C et al.
Human Mutation, 2021
CHM/REP1 Transcript Expression and Loss of Visual Function in Patients Affected by Choroideremia.
Di Iorio V et al.
Investigative Ophthalmology & Visual Science, 2019
Novel CHM mutations in Polish patients with choroideremia - an orphan disease with close perspective of treatment.
Skorczyk-Werner A et al.
Orphanet Journal of Rare Diseases, 2018
THE NATURAL HISTORY OF FULL-FIELD STIMULUS THRESHOLD DECLINE IN CHOROIDEREMIA.
Dimopoulos IS et al.
Retina (philadelphia, Pa.), 2018
Microperimetry as an Outcome Measure in Choroideremia Trials: Reproducibility and Beyond.
Dimopoulos IS et al.
Investigative Ophthalmology & Visual Science, 2016
Visual Function and Central Retinal Structure in Choroideremia.
Heon E et al.
Investigative Ophthalmology & Visual Science, 2016
Analysis of a large choroideremia dataset does not suggest a preference for inclusion of certain genotypes in future trials of gene therapy.
Freund PR et al.
Molecular Genetics & Genomic Medicine, 2016
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