Associated Papers
Adult genomic medicine: lessons from a multisite study of 2700 patients.
Bakur K et al.
Genome Medicine, 2025
41024252 (PubMed )
Supplement: 13073_2025_1529_MOESM1_ESM.xlsx › Sheet1
CHM mutation spectrum and disease: An update at the time of human therapeutic trials.
Zeitz C et al.
Human Mutation, 2021
Is subretinal AAV gene replacement still the only viable treatment option for choroideremia?
Han RC et al.
Expert Opinion on Orphan Drugs, 2021
Whole-exome sequencing identified a novel mutation in CHM of a Chinese family.
Tang H et al.
Journal of Genetics, 2021
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
Comprehensive mutation analysis (20 families) of the choroideremia gene reveals a missense variant that prevents the binding of REP1 with Rab geranylgeranyl transferase.
Esposito G et al.
Human Mutation, 2011
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