Mohammed J. Uddin

This study uses long-read whole genome sequencing and pangenomes to identify novel variants and pathogenic findings in neurodevelopmental disorder cases from underrepresented populations.

The paper identifies tissue- and isoform-level genetic regulation differences between epilepsy and SUDEP, revealing distinct cardiac and neuronal gene expression patterns.

The paper evaluates the Horizon model, a CNV classification tool aligned with ACMG guidelines, showing high accuracy in pathogenicity prediction across multiple datasets.

The paper presents the first Arab Pangenome Reference using long-read and Hi-C data, revealing novel sequences and variants specific to Arab populations.

PanScan is a tool for tertiary analysis of human pangenome graphs, enabling detection of duplicated genes, novel variants, and complex genomic regions.

The paper identifies ASD-related genes with significant evolutionary constraint in nonhuman primate genomes, highlighting potential for primate models of autism.

This study identifies rare genetic variants in MIS-C patients from the Middle East, linking them to disease onset and treatment resistance.

NeuroSCORE scores 19,598 genes based on five CNS-related metrics, identifying 1,580 high-scoring genes significantly associated with CNS phenotypes.

The paper identifies molecular signatures and dysregulated pathways in COVID-19 patients with varying disease severity using transcriptome sequencing of nasopharyngeal swabs.

The paper analyzes SARS-CoV-2 genome sequences from Dubai to show multiple introductions from Asia, Europe, and the Middle East during the early pandemic and identifies new mutations.