Author

Elif Tuzlali

Ontario Institute for Cancer Research

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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Genetic & Genomic Medicine· 1

Signature Assays, Organisms & Methods

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

Frequent Co-Authors

Amit TiroshiD· 1 shared Bailey GallingeriD· 1 shared Chansonette Badduke· 1 shared Chloe E. Mighton· 1 shared Chung Ting Tsoi· 1 shared Clare Sheen· 1 shared Deborah RitteriD· 1 shared Eamonn Richard MaheriD· 1 shared

Activity by Year

2026-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Amit TiroshORCID

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1 paper

Recent·Most cited

Multi-Platform Curation in the Development of ACMG/AMP Specifications for Von Hippel Lindau (VHL) Disease

Deborah Ritter, Chansonette Badduke, Kurston Doonanco, Hio Chung Kang, Tina F. Pesaran, Sarah Ridd, Clare Sheen, Kirsten M. Farncombe, Rachel H. Giles, Minjie Luo, Neta Pipko, Chung Ting Tsoi, Kelly McGoldrick, Chloe E. Mighton, Razan Abu Kashabeh, , Raymond H. Kim

The paper describes the development of variant classification specifications for the VHL gene using ACMG/AMP guidelines, resulting in updated evidence codes and improved classification consistency.

Genetics in Medicine · May 1, 2026Peer-reviewedGenetic & Genomic Medicine