Author

J. Mill

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Open access Sep 2026

A single-nuclei multiomics resource across four brain regions prioritises human neural cell types influencing brain-related traits

Genetic studies have identified thousands of variants associated with brain-related traits. However, the majority of these map to non-coding regions and their causal roles and functional consequences are unclear. In this study, we profiled gene expression and chromatin accessibility in ∼140,000 individual nuclei from 4...

A. Babtie, Georgina E. T. Blake, Youth-GEMs Consortium et al. · bioRxiv · 0 citations

Open access Sep 2026

Cell-type-resolved DNA methylation profiling in the cortex reveals female-specific X chromosome differences in autism

Sex differences are a prominent feature of many neurodevelopmental conditions, particularly autism for which approximately three males are diagnosed for every female. Although epigenetic dysregulation has been implicated in autism, the extent to which autism-associated epigenetic differences vary by sex and neural cell...

Alice Franklin, Jonathan P. Davies, B. Chioza et al. · bioRxiv · 0 citations

#protein folding Open access Sep 2026

Modulating splicing in 5ʹ untranslated regions to treat rare haploinsufficient disease

Rare genetic disorders collectively impact over 300 million people worldwide, yet around 95% have no specific treatments. For the many rare disorders caused by haploinsufficiency, effective therapies need to upregulate protein expression. However, therapeutic upregulation is often not straightforward. Increasing...

Eloise S. Beer Wells, L. De Conti, Hyung Chul Kim et al. · Genome Medicine · 0 citations