Alawi A.A. Alsheikh-Ali

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 assembles and characterizes 2,110 human centromeres, revealing novel haplotypes, mobile element insertions, and mutation rate variation across chromosomes.

460 haplotypes from 230 genomes, selected to maximize common-variant coverage, capture 99.43% of All of Us common small variants and halve structurally unreliable regions and base errors versus HPRC1.

The paper identifies two pathogenic variants in a consanguineous family, one causing hearing loss and the other neurodevelopmental disorder, through genomic and transcriptomic analysis.

The paper analyzes chromosome 22q11.2 haplotypes to show how structural variations in specific regions correlate with microdeletion and inversion risks across populations.

The paper uses long-read sequencing to identify pathogenic variants in autism cases, finding three pathogenic mutations and nine candidate structural variants missed by short-read sequencing.

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

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.

This study identifies IFIH1 loss-of-function variants in patients with inflammatory and SARS-CoV-2-related diseases, showing impaired immune responses and increased susceptibility.

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.

This study identifies rare genetic variants associated with severe COVID-19 in young Asian and Middle Eastern patients using whole exome sequencing.

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

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.

This study compares whole genome sequencing methods for SARS-CoV-2, showing improved detection and cost-effectiveness with target enrichment.