Author

Ami M. Perri

Hospital for Sick Children

Listed by name: these papers carry no ORCID for this author, so different people with the same name may be mixed together.

Biology Disciplines

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Genetics· 1 Molecular Biology· 1

Signature Assays, Organisms & Methods

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Approach:experimental assay· 1 Organism:human· 1 Organism:mouse· 1 Approach:statistical model· 1 Research Focus:variant effect prediction· 1 Assay:whole-exome sequencing· 1

Frequent Co-Authors

Berge Arakel MinassianiD· 1 shared Cameron A. Ackerley· 1 shared Eliseos J Mucaki· 1 shared Erin E. ChowniD· 1 shared Felix NitschkéiD· 1 shared Joan H.M. Knoll· 1 shared Laura F. DiGiovanniiD· 1 shared Lori IsraelianiD· 1 shared

Activity by Year

2016-2018 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 29 mutual co-author links

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1 shared paperMolecular Biology

Berge Arakel MinassianORCID

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2 papers

Recent·Most cited

Deficiency of the E3 Ubiquitin Ligase RBCK1 Causes Diffuse Brain Polyglucosan Accumulation and Neurodegeneration

Mitchell Anthony Sullivan, Felix Nitschké, Erin E. Chown, Laura F. DiGiovanni, Mackenzie Chown, Ami M. Perri, Sharmistha Mitra, Xiaochu Zhao, Cameron A. Ackerley, Lori Israelian, Saija Ahonen, Peixiang Wang, Berge Arakel Minassian

This study shows that RBCK1 deficiency in mice leads to brain polyglucosan accumulation and neurodegeneration, similar to Lafora disease but with distinct regional and subcellular features.

bioRxiv · Mar 6, 2018 · PreprintMolecular Biology

Prioritizing variants in complete Hereditary Breast and Ovarian Cancer (HBOC) genes in patients lacking known BRCA mutations

Natasha G Caminsky, Eliseos J Mucaki, Ami M. Perri, Ruipeng Lu, Joan H.M. Knoll, Peter K Rogan

The paper identifies and prioritizes non-coding variants in HBOC genes for patients without known BRCA mutations using information theory to assess functional impact.

bioRxiv · Feb 9, 2016Genetics