Daniel P. S. Osborn

Biallelic variants in ARHGAP19 cause a motor-predominant neuropathy with asymmetry and conduction slowing

The paper identifies biallelic variants in ARHGAP19 as a cause of motor-predominant neuropathy with conduction slowing in multiple families.

A CRISPR/Cas9-generated mutation in the zebrafish orthologue of PPP2R3B causes idiopathic scoliosis.

This study identifies a zebrafish mutation in PPP2R3B that causes kyphoscoliosis, mirroring human idiopathic scoliosis, with associated osteoporosis and mitochondrial abnormalities.

Fgf-driven Tbx protein activities directly induce myf5 and myod to initiate zebrafish myogenesis

WDR11-mediated Hedgehog signalling defects underlie a new ciliopathy related to Kallmann syndrome

This study identifies WDR11 as a regulator of Hedgehog signaling and ciliogenesis, linking its mutations to ciliopathy and Kallmann syndrome.

A mutation in the LMOD1 actin-binding domain segregating with disease in a large British family with thoracic aortic aneurysms and dissections

The paper identifies a mutation in LMOD1 associated with thoracic aortic aneurysms and dissections in a British family and validates its pathogenicity using zebrafish models.