Lucia Pedace

TL;DR: Human cerebellar organoids can be efficiently used to understand the role of genes found altered in cancer patients and represent a reliable tool for developing personalized therapies.

TL;DR: This work identifies a direct link between aberrant chromatin remodeling, cellular senescence, and accelerated aging in germline frameshift mutations involving the C-terminal tail of HIST1H1E.

TL;DR: In this article, the authors used clinical data from 34 individuals with truncating variants in SPEN to define a neurodevelopmental disorder presenting with features that overlap considerably with those of proximal del1p36 syndrome.

TL;DR: An epigenetic signature in subjects with Rahman syndrome that can be used to reach molecular diagnosis is demonstrated.

TL;DR: Severe, likely late stage RNA loss without splicing disruption was found for other mutations and the synonymous mutations did not alter protein function or stability, which has broad implications for genetic counseling and pathogenic variant discovery in Mendelian disorders.