Three-dimensional spatial analysis of missense variants in RTEL1 identifies pathogenic variants in patients with Familial Interstitial Pneumonia. - R. Michael Sivley; Jonathan H. Sheehan; Jonathan A. Kropski; Joy D. Cogan; Timothy S. Blackwell; John A. Phillips; William S. Bush; Jens Meiler; John A. Capra (BMC Bioinform., 2018)

HACER: an atlas of human active enhancers to interpret regulatory variants. - Jing Wang 026; Xizhen Dai; Lynne D. Berry; Joy D. Cogan; Qi Liu 024; Yu Shyr (Nucleic Acids Res., 2019)

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)