Fatma Rabea

This study identifies FBXO22 deficiency as a cause of a pleiotropic syndrome with growth restriction and neurodevelopmental delay, linked to an epigenetic signature involving histone demethylase KDM4B.

The paper develops a PCR/Nanopore sequencing assay for comprehensive SMN1 and SMN2 variant analysis with high accuracy and scalability.

This study evaluates genomic diagnostic yield and clinical impact in rare disease patients from the Middle East, finding higher yields with sequencing than microarrays and highlighting diagnostic delays due to limited access.