Alan Taylor

FBXO22 deficiency defines a pleiotropic syndrome of growth restriction and multi-system anomalies associated with a unique epigenetic signature

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.

GENETIC COUNSELING IN THE MIDDLE EAST

This study surveys healthcare professionals in the Middle East to understand challenges and perspectives on genetic counseling and testing, finding cultural and resource-related barriers and positive patient attitudes.

The Genomic Landscape of Rare Disorders in the Middle East

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.

Genetic determinants of severe COVID-19 in young Asian and Middle Eastern patients

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

Genomic and phenotypic characterization of Multisystem Inflammatory Syndrome in Children (MIS-C): a prospective multicenter study from the Middle East

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

Middle Eastern Genetic Variation Improves Clinical Annotation of the Human Genome

The paper highlights the importance of Middle Eastern genetic variation in improving clinical genome annotation and variant interpretation by presenting a new database with unique variants not found in existing resources.