Marcy Richardson

15PUBLICATIONS
201CO-AUTHORS
Gene expression (incl. microarray and other genome-wide approaches)Cancer geneticsNeurology and neuromuscular diseasesPredictive and prognostic markersEpigenetics (incl. genome methylation and epigenomics)
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Publications (15)

|Jul 09, 2026
An integrated, scaled approach to resolve TSC2 variants of uncertain significance.

|Apr 09, 2026
Combining multiplexed assays of variant effect for enhanced BRCA2 variant classification.

Chunling Hu, Sounak Sahu, Wenan Chen

|Jan 19, 2026
Site-saturation functional screens identify PALB2 missense variants associated with increased breast cancer risk.

Rick A C M Boonen, Sabine C Knaup, Roberta Menafra

|Nov 27, 2025
A Plot Twist: When RNA Yields Unexpected Findings in Paired DNA-RNA Germline Genetic Testing.

Heather Zimmermann, Terra Brannan, Colin Young

|Aug 27, 2025
Association of RPS20 Loss-of-Function Variants With Colorectal Cancer Risk in a Cohort of Over 950,000 Individuals.

Jennifer Herrera-Mullar, Cassidy Carraway, Ashley P L Marsh

|Aug 12, 2025
Comprehensively Testing the Function of Missense Variation in the STK11 Tumour Suppressor.

Daniel Zimmerman, Atina Cote, Warren van Loggerenberg

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Frequent Collaborators

6 joint publications

Katherine Nathanson

6 joint publications

Chunling Hu

6 joint publications

Fergus J Couch

5 joint publications

Susan M Domchek