VarRanker: rapid prioritization of sequence variations associated with human disease. - Brendan D. O'Fallon; Whitney Wooderchak-Donahue; Pinar Bayrak-Toydemir; David K. Crockett (BMC Bioinform., 2013)

Cystic fibrosis testing in a referral laboratory: results and lessons from a six-year period. - Perry G. Ridge; Christine Miller; Pinar Bayrak-Toydemir; D. Hunter Best; Rong Mao; Jeffrey J. Swensen; Elaine Lyon; Karl V. Voelkerding (J. Clin. Bioinform., 2013)

Combining genetic constraint with predictions of alternative splicing to prioritize deleterious splicing in rare disease studies. - Michael J. Cormier; Brent S. Pedersen; Pinar Bayrak-Toydemir; Aaron R. Quinlan (BMC Bioinform., 2022)

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)