Adel Mahmoud

CADD v1.7: using protein language models, regulatory CNNs and other nucleotide-level scores to improve genome-wide variant predictions

A signal processing and deep learning framework for methylation detection using Oxford Nanopore sequencing

FARS2 deficiency; new cases, review of clinical, biochemical, and molecular spectra, and variants interpretation based on structural, functional, and evolutionary significance

Abnormal spindle-like microcephaly gene detection in an autosomal recessive microcephalic Saudi patient with attention deficit hyperactivity disorder and mental retardation.