Author

Mark E. Mandell

Stanford Medicine

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· 2

Signature Assays, Organisms & Methods

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Approach:benchmark study· 2 Research Focus:database / resource· 1 Organism:human· 1 Research Focus:software / tool· 1 Approach:statistical model· 1 Research Focus:variant calling· 1 Research Focus:variant effect prediction· 1 Assay:whole-exome sequencing· 1

Frequent Co-Authors

Christine G. Preston· 2 shared Deborah RitteriD· 2 shared Heidi L. RehmiD· 2 shared Marina T. DiStefanoiD· 2 shared Matt W. WrightiD· 2 shared Sharon E. PloniD· 2 shared Aimé Zola LumakaiD· 1 shared Aleksander Milosavljevic· 1 shared

Activity by Year

2022-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 42 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Christine G. Preston

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2 papers

Recent·Most cited

ClinGen Variant Curation Interface Workshops: Training Variant Scientists on an International Platform

Deborah Ritter, Mark E. Mandell, Christine G. Preston, Marina T. DiStefano, Sahia M. Bryant, Nadia Carstens, Rolanda Julius, Aimé Zola Lumaka, Madhuri Hegde, Joanne Yuen Yie Ngeow, Joannella Morales, Matt W. Wright, Heidi L. Rehm, Sharon E. Plon

The paper describes international workshops training variant scientists on the ClinGen Variant Curation Interface (VCI) and reports on its usage and costs.

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

ClinGen Variant Curation Interface: A Variant Classification Platform for the Application of Evidence Criteria from ACMG/AMP Guidelines

Christine G. Preston, Matt W. Wright, Rao Madhavrao, Steven M. Harrison, Jennifer Goldstein, Xi Luo, Hannah Wand, Bryan Wulf, Gloria Cheung, Mark E. Mandell, Howard Tong, Shaung Cheng, Michael A. Iacocca, Arturo López Pineda, Alice B. Popejoy, , Helio A. Costa

The paper introduces the ClinGen Variant Curation Interface, a platform for applying ACMG/AMP guidelines to classify genetic variants, enabling collaboration and standardization in clinical variant interpretation.

Genome Medicine · Jan 17, 2022Peer-reviewedGenetic & Genomic Medicine