Associated Papers
The genetic landscape of inherited retinal dystrophies in Arabs.
Jaffal L et al.
Bmc Medical Genomics, 2023
37127645 (PubMed )
Supplement: 12920_2023_1518_MOESM2_ESM.xlsx › Sheet1
Clinical and genetic spectrums of 413 North African families with inherited retinal dystrophies and optic neuropathies.
Bouzidi A et al.
Orphanet Journal of Rare Diseases, 2022
35551639 (PubMed )
Supplement: 13023_2022_2340_MOESM3_ESM.xlsx › Feuil1
The Genetic Landscape of Inherited Retinal Diseases in a Mexican Cohort: Genes, Mutations and Phenotypes.
Villanueva-Mendoza C et al.
Genes, 2021
Spliceosomopathies and neurocristopathies: Two sides of the same coin?
Beauchamp MC et al.
Developmental Dynamics : an Official Publication of the American Association of Anatomists, 2020
Expanding the clinical and molecular spectrum of the CWC27-related spliceosomopathy.
Brea-Fernández AJ et al.
Journal of Human Genetics, 2019
Mutations in the Spliceosome Component CWC27 Cause Retinal Degeneration with or without Additional Developmental Anomalies.
Xu M et al.
American Journal of Human Genetics, 2017
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