Enhancing Patient Care in Rare Genetic Diseases: An HPO-based Phenotyping Pipeline. - Yao Xiao; Moein Enayati; Gavin M. Schaeferle; Brendan C. Lanpher; Eric W. Klee; Che Ngufor (BIBM, 2023)

Enriched phenotypes in rare variant carriers suggest pathogenic mechanisms in rare disease patients. - Lane Fitzsimmons; Maria T. Acosta; David R. Adams; Ben Afzali; Ali Al-Beshri; Eric Allenspach; Aimee Allworth; Raquel L. Alvarez; Justin Alvey; Ashley Andrews; Euan A. Ashley; Carlos A. Bacino; et al. (BioData Min., 2025)