Maria Mazurkiewicz‐Bełdzińska

Kif2C safeguards radial glial integrity to prevent cortical malformation

This study identifies Kif2C as a critical regulator of radial glial cell integrity, showing its role in preventing cortical malformations and linking its dysfunction to human neurodevelopmental disorders.

Fibroblast transcriptomics in molecular diagnostics of a comprehensive dystonia cohort

The paper uses fibroblast RNA-seq to improve molecular diagnosis in dystonia patients by identifying RNA expression and splicing defects missed by genomic sequencing.

A novel de novo FEM1C variant is linked to neurodevelopmental disorder with absent speech, pyramidal signs, and limb ataxia

The paper identifies a de novo FEM1C variant linked to neurodevelopmental disorder and shows its pathogenicity using in vitro and in vivo models.