Author

Erin Zampaglione

Massachusetts Eye and Ear InfirmaryORCID 0000-0001-9439-8133Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 2 Genomics· 1

Signature Assays, Organisms & Methods

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Organism:human· 3 Approach:statistical model· 3 Assay:whole-exome sequencing· 2 Research Focus:differential expression· 1 Research Focus:variant calling· 1 Research Focus:variant effect prediction· 1

Frequent Co-Authors

Emily PlaceiD· 3 shared Eric A. PierceiD· 3 shared Kinga M. BujakowskaiD· 3 shared Matthew MaheriD· 2 shared Naomi E. WagneriD· 2 shared Sherwin Nassiri· 2 shared Alaa AlTalbishiiD· 1 shared Ana Berta SousaiD· 1 shared

Activity by Year

2020-2021 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 36 mutual co-author links

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3 shared papersGenetic & Genomic Medicine

Emily PlaceORCID

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3 papers

Recent·Most cited

Genetic & Genomic MedicineGenetics in MedicinePeer-reviewedNov 30, 2021

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

Erin Zampaglione, Matthew Maher, Emily Place…·Kinga M. Bujakowska

The paper introduces MATK, an automated variant ranking tool for Mendelian disease diagnosis, showing it identifies most expert solutions and finds additional variants in unsolved cases.

18 citations

humanwhole-exome sequencing

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Genetic & Genomic Medicinenpj Genomic MedicinePeer-reviewedJun 29, 2021

Early onset non-syndromic retinal degeneration due to variants in INPP5E: phenotypic expansion of the ciliary gene previously associated with Joubert syndrome

Riccardo Sangermano, Iris Deitch, Virginie G. Peter…·Kinga M. Bujakowska

The paper identifies INPP5E variants in non-syndromic retinal degenerations, expanding the known phenotypic spectrum of this ciliary gene.

22 citations

humanstatistical model

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GenomicsGenetics in MedicinePeer-reviewedFeb 9, 2020

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

Erin Zampaglione, Benyam Kinde, Emily Place…·Kinga M. Bujakowska

The paper identifies copy-number variations (CNVs) as a significant contributor to unsolved inherited retinal degeneration (IRD) cases, increasing the genetic diagnostic rate through NGS-based CNV detection.

110 citationstop 3%

humanwhole-exome sequencing

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