Author

Marie Balzotti

Myriad Genetics

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· 3

Signature Assays, Organisms & Methods

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Approach:statistical model· 3 Research Focus:database / resource· 2 Organism:human· 2 Research Focus:benchmarking· 1 Assay:GWAS summary statistics· 1

Frequent Co-Authors

Ada HamoshiD· 2 shared Alison J. CoffeyiD· 2 shared Jonathan S. BergiD· 2 shared Marina T. DiStefanoiD· 2 shared Sarah E. A. LeighiD· 2 shared Zornitza StarkiD· 2 shared Aditi Chawla· 1 shared Ai Ling KohiD· 1 shared

Activity by Year

2020-2025 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Ada HamoshORCID

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3 papers

Recent·Most cited

The ClinGen Syndromic Disorders Gene Curation Expert Panel: Assessing the Clinical Validity of 111 Gene-Disease Relationships

Eleanor C Broeren, Vanessa N. Gitau, Alicia B. Byrne, Pamela Ajuyah, Marie Balzotti, Jonathan S. Berg, Krista K. Bluske, B. Monica Bowen, Matthew P. Brown, Amanda Buchanan, Brendan T. Burns, Nicole J. Burns, Anjana Chandrasekhar, Aditi Chawla, Jessica X. Chong, , Alison J. Coffey

The paper curates 111 gene-disease relationships for syndromic disorders, classifying their clinical validity and identifying gaps in knowledge.

Genetics in Medicine Open · Jan 1, 2025Peer-reviewedGenetic & Genomic Medicine

The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources

Marina T. DiStefano, Scott R. Goehringer, Lawrence J. Babb, Fowzan Sami Alkuraya, Joanna S. Amberger, Mutaz Amin, Christina Anne Austin-Tse, Marie Balzotti, Jonathan S. Berg, Ewan Birney, Carol A. Bocchini, Elspeth A. Bruford, Alison J. Coffey, Heather Collins, Fiona M Cunningham, , Heidi L. Rehm

The paper describes the formation of the Gene Curation Coalition to standardize gene-disease validity terminology and create a unified database for curated gene-disease assertions.

Genetics in Medicine · May 4, 2022Peer-reviewedGenetic & Genomic Medicine

Clinical validity of expanded carrier screening: evaluating the gene-disease relationship in more than 200 conditions

Marie Balzotti, Linyan Meng, Dale Muzzey, Katherine Johansen Taber, Kyle A. Beauchamp, Myriad Genetics Curation Team, Baylor Genetics Curation Team, Rebecca Mar‐Heyming, Bethany A. Buckley, Krista Moyer

The paper evaluates the clinical validity of expanded carrier screening panels by assessing gene-disease associations for 208 conditions using the ClinGen framework, finding strong evidence for all conditions.

Human Mutation · May 7, 2020Peer-reviewedGenetic & Genomic Medicine