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Genome Biology|April 29, 2024
Differences in 5'untranslated regions highlight the importance of translational regulation of dosage sensitive genesNechama Wieder, Elston N D'Souza, Alexandra C Martin-Geary, et al.Medrxiv : the Preprint Server for Health Sciences|September 25, 2023
Systematic identification of disease-causing promoter and untranslated region variants in 8,040 undiagnosed individuals with rare diseaseAlexandra C Martin-Geary, Alexander J M Blakes, Ruebena Dawes, et al.Acta Neuropathologica|June 15, 2026
Mechanisms of increased Alzheimer's disease pathology with R47H and R62H TREM2 variantsNurun N Fancy, Nanet Willumsen, Vicky M N Chau, et al.Genome Medicine|April 14, 2025
Systematic identification of disease-causing promoter and untranslated region variants in 8040 undiagnosed individuals with rare diseaseAlexandra C Martin-Geary, Alexander J M Blakes, Ruebena Dawes, et al.Pageof 2