Towards Enabling the Semantic Access of Phenotypic Information in Clinical Letters. - Shahad Kudama; Rafael Berlanga Llavori; Henry Houlden; Ernesto Jiménez-Ruiz; Hallgeir Jonvik; Adam Milward; Huw Morris; Mina Ryten; Jake Saklatvala; Michael Simpson; Nicholas W. Wood (SWAT4LS, 2015)

Whole-genome sequencing of patients with rare diseases in a national health system. - Ernest Turro; William J. Astle; Karyn Megy; Stefan Gräf; Daniel Greene; Olga Shamardina; Hana Lango Allen; Alba Sanchis-Juan; Mattia Frontini; Chantal Thys; Jonathan Stephens; Rutendo Mapeta; et al. (Nat., 2020)