Mahmoud Koko

This study examines the genetic contributions to emotional and behavioural symptoms in childhood and adolescence using common and rare variants from two large cohorts.

The paper presents a spatial transcriptomic atlas of autism-associated genes in the developing human brain, identifying convergence in the thalamus and germinal zones.

The paper examines how common and rare genetic variants affect cognitive performance across childhood and adolescence, finding age-related changes in their effects and differences in their impact across the phenotype distribution.

This study investigates how common genetic variants contribute to risk for rare neurodevelopmental conditions and examines indirect genetic effects through parental non-transmitted alleles.

The paper identifies 267 genes reclassified as protein-coding in GRCh38 that were previously labeled as non-protein-coding in GRCh37, highlighting the impact of outdated annotations on variant prioritization and clinical diagnostics.

The paper analyzes ultra-rare variants in epilepsy patients to identify gene-set enrichment patterns and differential impacts in neuronal gene categories.

The paper reports a recurrent AIPL1 truncating variant in a Sudanese family with Leber Congenital Amaurosis, supporting its pathogenicity and regional significance.

The paper develops a bioinformatic panel to identify disease-causing variants missed by conventional variant calling in sites with minor reference alleles.