Finding commonalities in rare diseases through the undiagnosed diseases network. - Josephine Yates; Alba Gutiérrez-Sacristán; Vianney Jouhet; Kimberly Leblanc; Cecilia Esteves; Thomas N. Desain; Nick Benik; Jason Stedman; Nathan P. Palmer; Guillaume Mellon; Isaac S. Kohane; Paul Avillach (J. Am. Medical Informatics Assoc., 2021)

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)