Associated Papers
The role of untranslated region variants in Mendelian disease: a review.
Wieder N et al.
European Journal of Human Genetics : Ejhg, 2025
Non-coding single-nucleotide and structural variants affecting the EYS putative promoter cause autosomal recessive retinitis pigmentosa.
Hayman T et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2025
Combining a prioritization strategy and functional studies nominates 5'UTR variants underlying inherited retinal disease.
Dueñas Rey A et al.
Genome Medicine, 2024
Development and Validation of a Fully Automated Platform for Extended Blood Group Genotyping.
Boccoz SA et al.
The Journal of Molecular Diagnostics : Jmd, 2016
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