Matthew Osmond

Elevated viral recombination in short-lived hosts

The paper shows that viruses in short-lived hosts recombine more frequently due to higher population density and co-infection rates, supported by avian influenza data.

NUBP2 deficiency disrupts the centrosome-check point in the brain and causes primary microcephaly

This study identifies NUBP2 deficiency as a cause of primary microcephaly by showing its role in centrosome and cilia regulation during neurogenesis.

One-Sided Matching Portal (OSMP): a tool to facilitate rare disease patient matchmaking

The paper introduces OSMP, a tool for one-sided genomic matchmaking in rare disease patients, which efficiently filters variant occurrences to prioritize clinically relevant matches.

Adaptor protein 2 sigma subunit (AP2S1) variants associated with neurodevelopmental disorders

The paper identifies AP2S1 variants linked to neurodevelopmental disorders by showing they impair clathrin-mediated endocytosis and disrupt protein interactions.

Deleterious, protein-altering variants in the X-linked transcriptional coregulator ZMYM3 in 22 individuals with a neurodevelopmental delay phenotype

The paper identifies ZMYM3 variants in 22 individuals with neurodevelopmental delay, showing recurrent mutations, phenotypic overlap, and functional effects, supporting ZMYM3 as a novel NDD gene.

Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction

The paper identifies mutation-specific pathophysiological mechanisms in SATB1 variants causing distinct neurodevelopmental disorders.