Updates on diagnostic criteria for hereditary haemorrhagic telangiectasia in the light of whole genome sequencing of 'gene-negative' individuals recruited to the 100 000 Genomes Project

Affiliations

• ¹ National Heart and Lung Institute, Imperial College London, London, UK c.shovlin@imperial.ac.uk.
• ² Specialist Medicine, Imperial College Healthcare NHS Trust, London, UK.
• ³ National Heart and Lung Institute, Imperial College London, London, UK.
• ⁴ Imaging, Imperial College Healthcare NHS Trust, London, UK.
• ⁵ Paediatrics, Imperial College Healthcare NHS Trust, London, UK.
• ⁶ ENT Surgery, Imperial College Healthcare NHS Trust, London, UK.
• ⁷ North Tees and Hartlepool NHS Foundation Trust, Hartlepool, UK.
• ⁸ Genomics England, London, UK.