Associated Papers
Frequency enrichment of coding variants in a French-Canadian founder population and its implication for inflammatory bowel diseases.
Bhérer C et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
40791678 (PubMed )
Supplement: media-2.xlsx › Table_S12_ClinVar_PLP_variants
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
Comprehensive germline genomic profiles of children, adolescents and young adults with solid tumors.
Akhavanfard S et al.
Nature Communications, 2020
32371905 (PubMed )
Supplement: 41467_2020_16067_MOESM12_ESM.xlsx › Supplementary_Data_9
Variants in CIB2 cause DFNB48 and not USH1J.
Booth KT et al.
Clinical Genetics, 2018
Assessing Photoreceptor Structure in Retinitis Pigmentosa and Usher Syndrome.
Sun LW et al.
Investigative Ophthalmology & Visual Science, 2016
27145477 (PubMed )
Supplement: i1552-5783-57-6-2428-s01.pdf
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