Author

Naomi E. Wagner

Massachusetts Eye and Ear InfirmaryORCID 0000-0002-5470-2652Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 2

Signature Assays, Organisms & Methods

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

Frequent Co-Authors

Emily PlaceiD· 2 shared Eric A. PierceiD· 2 shared Erin ZampaglioneiD· 2 shared Kinga M. BujakowskaiD· 2 shared Alaa AlTalbishiiD· 1 shared Ana Berta SousaiD· 1 shared Andrew J. CatomerisiD· 1 shared Andrew R. WebsteriD· 1 shared

Activity by Year

2021-2021 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 40 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Emily PlaceORCID

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2 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

𝕏 PostBluesky