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Search results (14)

« Back to Publications

The role of untranslated region variants in Mendelian disease: a review.

Wieder N. et al, (2025), Eur J Hum Genet, 33, 1096 - 1105

Systematic identification of disease-causing promoter and untranslated region variants in 8040 undiagnosed individuals with rare disease.

Martin-Geary AC. et al, (2025), Genome Med, 17

Aberrant splicing prediction during human organ development

Wagner N. et al, (2025)

Using SpliceAI to triage splice-altering variants in 7,220 individuals with rare conditions highlights limitations of the precomputed scores

Martin-Geary A. et al, (2025)

Noncoding variants are a rare cause of recessive developmental disorders in trans with coding variants.

Lord J. et al, (2024), Genet Med, 26

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 Biol, 25

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)

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), EUROPEAN JOURNAL OF HUMAN GENETICS, 32, 854 - 854

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

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), Circ Genom Precis Med, 12, 442 - 451

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

Martin-Geary A. et al, (2019)