The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data. - Sebastian Köhler 001; Sandra C. Doelken; Christopher J. Mungall; Sebastian Bauer 002; Helen V. Firth; Isabelle Bailleul-Forestier; Graeme C. M. Black; Danielle L. Brown; Michael Brudno; Jennifer Campbell; David R. FitzPatrick; Janan T. Eppig; et al. (Nucleic Acids Res., 2014)

Phenopolis: an open platform for harmonization and analysis of genetic and phenotypic data. - Nikolas Pontikos; Jing Yu 006; Ismail Moghul; Lucy Withington; Fiona Blanco-Kelly; Tom Vulliamy; Tsz Lun Ernest Wong; Cian Murphy; Valentina Cipriani; Alessia Fiorentino; Gavin Arno; Daniel Greene; et al. (Bioinform., 2017)

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)