Author

Ildiko Thibodeau

Helix (United States)

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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Organism:human· 2 Approach:statistical model· 2 Research Focus:benchmarking· 1 Research Focus:database / resource· 1 Research Focus:GWAS / association mapping· 1 Assay:GWAS summary statistics· 1 Research Focus:variant effect prediction· 1 Assay:whole-exome sequencing· 1

Frequent Co-Authors

Alexandre BolzeiD· 2 shared Catherine A. HajekiD· 2 shared Elizabeth T. CirulliiD· 2 shared Joseph J. GrzymskiiD· 2 shared Kelly M. Schiabor BarrettiD· 2 shared Matthew J. FerberiD· 2 shared Nicole L. WashingtoniD· 2 shared Alexa Anderson· 1 shared

Activity by Year

2024-2025 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 43 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Alexandre BolzeORCID

Mutual co-authors in cluster

Author profile →

2 papers

Recent·Most cited

From Uncertain to Actionable: Significant Reduction in Variants of Uncertain Significance in Hereditary Germline Testing via Multi-Institutional Real-World Evidence

Kelly M. Schiabor Barrett, Matthew J. Ferber, Sophie I. Candille, Ildiko Thibodeau, Daniela Iacoboni, Amy Curry Sturm, Chad R. Haldeman‐Englert, Steven Francis Powell, Douglas A. Stoller, Christopher N. Chapman, C. Anwar A. Chahal, Daniel Philip Judge, Douglas A. Olson, Joseph J. Grzymski, Nicole L. Washington, , Elizabeth T. Cirulli

This paper introduces a method to reclassify variants of uncertain significance using real-world evidence from large-scale datasets, significantly improving variant interpretation.

medRxiv · Aug 12, 2025 · PreprintGenetic & Genomic Medicine

Combining rare and common genetic variants improves population risk stratification for breast cancer

Alexandre Bolze, Daniel Kiser, Kelly M. Schiabor Barrett, Gai Elhanan, Jamie M. Schnell Blitstein, Iva Neveux, Shaun Dabe, Harry Reed, Alexa Anderson, William J. Metcalf, Ekaterina Orlova, Ildiko Thibodeau, Natalie Telis, Ruomu Jiang, Nicole L. Washington, , Joseph J. Grzymski

This study evaluates genetic screening approaches for breast cancer risk, finding that combining rare and common variants improves risk stratification.

Genetics in Medicine Open · Jan 1, 2024Peer-reviewedGenetic & Genomic Medicine