Erin Zampaglione

Large scale matching of function to the genetic identity of retinal ganglion cells

A. Sher, K. Mathieson, M. Dawson, 2017, Scientific Reports.

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

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

Expanding the phenotypic spectrum in RDH12-associated retinal disease

S. Mukai, E. Pierce, R. Huckfeldt, 2020, Cold Spring Harbor molecular case studies.

Broadening INPP5E phenotypic spectrum: detection of rare variants in syndromic and non-syndromic IRD

A. Fulton, D. Sharon, C. Rivolta, 2021, npj Genomic Medicine.

Natural history of retinitis pigmentosa based on genotype, vitamin A/E supplementation, and an electroretinogram biomarker

E. Pierce, R. Huckfeldt, J. Comander, 2022, medRxiv.

The Importance of Automation in Genetic Diagnosis: Lessons from Analyzing an Inherited Retinal Degeneration Cohort with the Mendelian Analysis Toolkit (MATK)

E. Pierce, E. England, E. Place, 2021, medRxiv.