Last Updated: 09/26/2026
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Found 28 publications
Phenotype-Specific Recalibration of MAVE Data Enables Repurposing of BAP1 Functional Assays for Küry-Isidor Syndrome.
Journal: medRxiv : the preprint server for health sciences
Published: June 04, 2026
Not Forgotten: Patient Experiences with Genetic Variant Reclassifications.
Journal: medRxiv : the preprint server for health sciences
Published: May 25, 2026
A scalable approach to resolving variants of uncertain significance.
Journal: bioRxiv : the preprint server for biology
Published: February 23, 2026
An integrated, scaled approach to resolve TSC2 variants of uncertain significance.
Journal: bioRxiv : the preprint server for biology
Published: February 06, 2026
An integrated, scaled approach to resolve TSC2 variants of uncertain significance.
Journal: Nature communications
Published: January 16, 2026
MaveMD: A functional data resource for genomic medicine.
Journal: medRxiv : the preprint server for health sciences
Published: December 03, 2025
Saturation genome editing of BARD1 resolves VUS and provides insight into BRCA1-BARD1 tumor suppression.
Journal: medRxiv : the preprint server for health sciences
Published: November 24, 2025
Combining multiplexed functional data to improve variant classification.
Journal: Genome medicine
Published: November 16, 2025
Gene-based calibration of high-throughput functional assays for clinical variant classification.
Journal: bioRxiv : the preprint server for biology
Published: July 14, 2025
Image-based, pooled phenotyping reveals multidimensional, disease-specific variant effects.
Journal: bioRxiv : the preprint server for biology
Published: July 09, 2025
Image-based, pooled phenotyping reveals multidimensional, disease-specific variant effects.
Journal: Cell
Published: July 07, 2025
Multiplexed assays of variant effect for clinical variant interpretation.
Journal: Nature reviews. Genetics
Published: June 17, 2025
Last Updated: 09/26/2026