Copy-number variation contributes 9% of pathogenicity in the inherited retinal degenerationsErin Zampaglione, Kinga M. Bujakowska, Caitlin Finn et al.|Genetics in Medicine|2020Cited by 115
The importance of automation in genetic diagnosis: Lessons from analyzing an inherited retinal degeneration cohort with the Mendelian Analysis Toolkit (MATK)Erin Zampaglione, Kinga M. Bujakowska, Matthew Maher et al.|Genetics in Medicine|2021Cited by 20
Copy-number variation contributes 9% of pathogenicity in the inherited retinal degenerationsErin Zampaglione, Kinga M. Bujakowska, Benyam Kinde et al.|bioRxiv (Cold Spring Harbor Laboratory)|2019Cited by 14
The Importance of Automation in Genetic Diagnosis: Lessons from Analyzing an Inherited Retinal Degeneration Cohort with the Mendelian Analysis Toolkit (MATK)Erin Zampaglione, Kinga M. Bujakowska, Matthew Maher et al.|medRxiv|2021Cited by 7