Lucía Peña‐Pérez

Phenotypic and transcriptomic characterisation of a novel biallelic RNU2-2 developmental and epileptic encephalopathy

The paper identifies 14 individuals with biallelic RNU2-2 variants causing a severe developmental and epileptic encephalopathy, supported by phenotyping and fibroblast RNA sequencing.

The mitochondrial methylation potential gates mitoribosome assembly

The paper shows that mitochondrial SAM is essential for processing mitochondrial ribosomal RNA precursors and ribosome assembly.

Linked-read whole-genome sequencing resolves common and private structural variants in multiple myeloma

This study uses linked-read whole-genome sequencing to detect structural variants and copy number variations in multiple myeloma, identifying both common and private variants that affect gene regulation and molecular classification.