Associated Papers
Multicentric Longitudinal Prospective Study in a European Cohort of MYO7A Patients: Disease Course and Implications for Gene Therapy.
Testa F et al.
Investigative Ophthalmology & Visual Science, 2024
38884554 (PubMed )
Supplement: iovs-65-6-25_s003.xlsx › DOMAIN_annotation
Genetic epidemiology of inherited retinal diseases in a large patient cohort followed at a single center in Italy.
Karali M et al.
Scientific Reports, 2022
36460718 (PubMed )
Supplement: 41598_2022_24636_MOESM2_ESM.xlsx › Supplementary_Table_S1
The Study of a 231 French Patient Cohort Significantly Extends the Mutational Spectrum of the Two Major Usher Genes MYO7A and USH2A.
Mansard L et al.
International Journal of Molecular Sciences, 2021
34948090 (PubMed )
Supplement: ijms-22-13294-s001.zip › supplementary_tables › TableS1.xlsx › Feuil1
Spectrum of MYO7A Mutations in an Indigenous South African Population Further Elucidates the Nonsyndromic Autosomal Recessive Phenotype of DFNB2 to Include Both Homozygous and Compound Heterozygous Mutations.
Kabahuma RI et al.
Genes, 2021
Genomic Landscape and Mutational Signatures of Deafness-Associated Genes.
Azaiez H et al.
American Journal of Human Genetics, 2018
30245029 (PubMed )
Supplement: mmc2.xlsx › Table_S3
CRISPR-Cas9 genome engineering: Treating inherited retinal degeneration.
Burnight ER et al.
Progress in Retinal and Eye Research, 2018
Combined genetic approaches yield a 48% diagnostic rate in a large cohort of French hearing-impaired patients.
Baux D et al.
Scientific Reports, 2017
29196752 (PubMed )
Supplement: 41598_2017_16846_MOESM2_ESM.xlsx › Feuil1
Compound heterozygous MYO7A mutations segregating Usher syndrome type 2 in a Han family.
Zong L et al.
International Journal of Pediatric Otorhinolaryngology, 2016
Study of USH1 splicing variants through minigenes and transcript analysis from nasal epithelial cells.
Aparisi MJ et al.
Plos One, 2013
Structure of MyTH4-FERM domains in myosin VIIa tail bound to cargo.
Wu L et al.
Science (new York, N.y.), 2011
MYO7A mutation screening in Usher syndrome type I patients from diverse origins.
Jaijo T et al.
Journal of Medical Genetics, 2007
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