Systematic identification of disease-causing promoter and untranslated region variants in 8040 undiagnosed individuals with rare disease
Martin-Geary AC. et al, (2025), Genome Medicine, 17
Noncoding variants are a rare cause of recessive developmental disorders in trans with coding variants
Lord J. et al, (2024), Genetics in Medicine, 26, 101249 - 101249
De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome
Chen Y. et al, (2024), Nature, 632, 832 - 840
Differences in 5'untranslated regions highlight the importance of translational regulation of dosage sensitive genes.
Wieder N. et al, (2024), Genome biology, 25
Systematic identification of disease-causing promoter and untranslated region variants in 8,040 undiagnosed individuals with rare disease.
Martin-Geary AC. et al, (2023), medRxiv
Integration of Large-Scale Genomic Data Sources With Evolutionary History Reveals Novel Genetic Loci for Congenital Heart Disease
Fotiou E. et al, (2019), Circulation: Genomic and Precision Medicine, 12
Human genetic disease is greatly influenced by the underlying fragility of evolutionarily ancient genes
Martin-Geary A. et al, (2019)