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Author

S. Bryen

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Open access Oct 2026

Rare and common genetic variants shape single-cell immune gene expression.

Understanding the genetic basis of gene expression can shed light on the regulatory mechanisms underlying complex traits and diseases1,2. Single-cell-resolved measures of RNA levels and single-cell expression quantitative trait loci have revealed genetic regulation that drives cell states and types across diverse tissu...

Anna S. E. Cuomo, E. Spenceley, H. Tanudisastro et al. · 3 citations
Open access Oct 2026

Biallelic variants in PIKFYVE cause a hypomyelinating leukodystrophy with endolysosomal dysfunction.

The PIKfyve-FIG4-VAC14 lipid kinase complex generates phosphoinositide PI(3,5)P2. Pathogenic variants in VAC14 and FIG4 cause neurodevelopmental disorders and PIKFYVE has been linked to autosomal dominant fleck corneal dystrophy. We searched for the underlyging, genetic cause of a neurodevelopmental disorder in five af...

L. Averdunk, Martin Groß, Anne Hamacher et al. · 0 citations

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