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Publications

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 : official journal of the American College of Medical Genetics, 26

De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome.

Chen Y. et al, (2024), Nature, 632, 832 - 840

De novo variants in the non-coding spliceosomal snRNA gene RNU4-2 are a frequent cause of syndromic neurodevelopmental disorders.

Chen Y. et al, (2024)

Differences in 5'untranslated regions highlight the importance of translational regulation of dosage sensitive genes.

Wieder N. et al, (2024), Genome biology, 25

Differences in 5’untranslated regions highlight the importance of translational regulation of dosage sensitive genes

Wieder N. et al, (2023)

Non-coding variants are a rare cause of recessive developmental disordersin transwith coding variants

Lord J. et al, (2023)

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, 442 - 451

Human genetic disease is greatly influenced by the underlying fragility of evolutionarily ancient genes

Martin-Geary A. et al, (2019)

Include forthcoming?