Associated Papers
Genetics of prelingual isolated deafness and Usher syndrome in the Maghreb and Jordan: Harnessing the potential of homozygosity.
Riahi Z et al.
Proceedings of the National Academy of Sciences of the United States of America, 2025
41359850 (PubMed )
Supplement: pnas.2518445122.sapp.pdf
Report of rare and novel mutations in candidate genes in a cohort of hearing-impaired patients.
Liu M et al.
Molecular Genetics & Genomic Medicine, 2022
Exome Sequencing Reveals AGBL5 as Novel Candidate Gene and Additional Variants for Retinitis Pigmentosa in Five Turkish Families.
Kastner S et al.
Investigative Ophthalmology & Visual Science, 2015
Experience of targeted Usher exome sequencing as a clinical test.
Besnard T et al.
Molecular Genetics & Genomic Medicine, 2014
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