Eric A. Pierce

Exome copy number variant detection, analysis and classification in a large cohort of families with undiagnosed rare genetic disease

Jack M. Fu, K. Garimella, A. O’Donnell-Luria, 2023, medRxiv.

Copy-number variation contributes 9% of pathogenicity in the inherited retinal degenerations

E. Pierce, J. Comander, Benyam Kinde, 2019, bioRxiv.

Genome Sequencing for Diagnosing Rare Diseases.

A. O’Donnell-Luria, B. Weisburd, M. Singer-Berk, 2024, The New England journal of medicine.

Unique Capabilities of Genome Sequencing for Rare Disease Diagnosis

Tiong, Kinga, A. O’Donnell-Luria, 2023, medRxiv.