Author

Jamie D. Weyandt

Ambry Genetics (United States)ORCID 0000-0001-5602-5782Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 1 Genetics· 1

Signature Assays, Organisms & Methods

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Organism:human· 2 Approach:statistical model· 2 Research Focus:variant effect prediction· 2 Assay:whole-exome sequencing· 2 Assay:CRISPR screen· 1 Research Focus:database / resource· 1 Assay:DNA methylation· 1 Approach:experimental assay· 1

Frequent Co-Authors

Marcy E. RichardsoniD· 2 shared Abby V. McGeeiD· 1 shared Abbye E. McEweniD· 1 shared Alan F. RubiniD· 1 shared Alexandra MartinsiD· 1 shared Allyssa J. VandiiD· 1 shared Álvaro N.A. MonteiroiD· 1 shared Amanda B. SpurdleiD· 1 shared

Activity by Year

2024-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 25 mutual co-author links

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2 shared papersGenetics

Marcy E. RichardsonORCID

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2 papers

Recent·Most cited

GeneticsNature CommunicationsPeer-reviewedJul 9, 2026

✦ In-depth digest

An integrated, scaled approach to resolve TSC2 variants of uncertain significance

Carina G Biar, Ziyu R. Wang, Nathan D. Camp…·Jeffrey Dennis Calhoun

Abundance scores for 8,891 TSC2 missense variants, plus mTOR pathway activity scores for 391, were calibrated to ACMG/AMP evidence. They putatively reclassify 212 of 276 clinical-cohort missense VUS.

3 citationstop 1%

humanCRISPR screen

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Genetic & Genomic MedicineThe American Journal of Human GeneticsPeer-reviewedAug 13, 2024

Evidence-based recommendations for gene-specific ACMG/AMP variant classification from the ClinGen ENIGMA BRCA1 and BRCA2 Variant Curation Expert Panel

Michael T. Parsons, Miguel de la Hoya, Marcy E. Richardson…·Amanda B. Spurdle

The paper refines ACMG/AMP variant classification criteria for BRCA1 and BRCA2 by calibrating evidence strength and improving classification consistency through expert panel review.

104 citationstop 1%

humanDNA methylation

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