Olivia Niblock

PanelApp crowdsources expert knowledge to establish consensus diagnostic gene panels

Katherine R. Smith, D. Smedley, M. Caulfield, 2019, Nature Genetics.

The 100,000 Genomes Pilot on Rare Disease Diagnosis in Healthcare − A Preliminary Report

Julius O. B. Jacobsen, Robert W. Taylor, Eleanor F. Dewhurst, 2021, The New England journal of medicine.

Scaling national and international improvement in virtual gene panel curation via a collaborative approach to discordance resolution.

M. Caulfield, E. McDonagh, Catherine Snow, 2021, American journal of human genetics.

PanelApp crowdsources expert knowledge to establish consensus diagnostic gene panels

Katherine R. Smith, D. Smedley, M. Caulfield, 2019, Nature Genetics.