Marinella Gebbia

Toronto, ON, Canada

Last Updated: 09/26/2026

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Found 34 publications

A scalable approach to resolving variants of uncertain significance.

A scalable approach to resolving variants of uncertain significance.

Journal: bioRxiv : the preprint server for biology

Published: February 23, 2026

Systematic and proactive evaluation of AIRE missense variant effects.

Systematic and proactive evaluation of AIRE missense variant effects.

Journal: bioRxiv : the preprint server for biology

Published: December 03, 2025

Systematic and proactive evaluation of AIRE missense variant effects.

Systematic and proactive evaluation of AIRE missense variant effects.

Journal: American journal of human genetics

Published: December 01, 2025

Experimental assessment of AI-based interactome mapping.

Experimental assessment of AI-based interactome mapping.

Journal: Nature communications

Published: August 19, 2025

Comprehensively Testing the Function of Missense Variation in the STK11 Tumour Suppressor.

Comprehensively Testing the Function of Missense Variation in the STK11 Tumour Suppressor.

Journal: bioRxiv : the preprint server for biology

Published: August 12, 2025

Landscapes of missense variant impact for human superoxide dismutase 1.

Landscapes of missense variant impact for human superoxide dismutase 1.

Journal: bioRxiv : the preprint server for biology

Published: March 10, 2025

Landscapes of missense variant impact for human superoxide dismutase 1.

Landscapes of missense variant impact for human superoxide dismutase 1.

Journal: American journal of human genetics

Published: February 28, 2025

ME2 Deficiency Is Associated With Recessive Neurodevelopmental Disorder.

ME2 Deficiency Is Associated With Recessive Neurodevelopmental Disorder.

Journal: Clinical genetics

Published: September 06, 2024

Widespread variation in molecular interactions and regulatory properties among transcription factor isoforms.

Widespread variation in molecular interactions and regulatory properties among transcription factor isoforms.

Journal: bioRxiv : the preprint server for biology

Published: April 15, 2024

Widespread variation in molecular interactions and regulatory properties among transcription factor isoforms.

Widespread variation in molecular interactions and regulatory properties among transcription factor isoforms.

Journal: Molecular cell

Published: March 18, 2024

A missense variant effect map for the human tumor-suppressor protein CHK2.

A missense variant effect map for the human tumor-suppressor protein CHK2.

Journal: American journal of human genetics

Published: February 29, 2024

Systematically testing human HMBS missense variants to reveal mechanism and pathogenic variation.

Systematically testing human HMBS missense variants to reveal mechanism and pathogenic variation.

Journal: American journal of human genetics

Published: March 07, 2023

Showing 1-12 of 34

Last Updated: 09/26/2026