Hamza Hadj Abdallah

The paper identifies biallelic variants in RNU4-2 causing a recessive neurodevelopmental syndrome with distinct white matter changes, expanding the known genotypic and phenotypic spectrum of RNU4-2-related disorders.

The paper identifies de novo variants in RNU4-2 and RNU5B-1 as causes of neurodevelopmental disorders by disrupting splicing, with variant location and allele phase influencing clinical severity.

CNVxplorer is a web tool that improves CNV interpretation in rare disease patients by integrating clinical, genomic, and epigenomic features to enhance diagnostic accuracy.