Matthew J O'Neill

7PUBLICATIONS
51CO-AUTHORS
Gene and molecular therapyGene expression (incl. microarray and other genome-wide approaches)NeonatologyNeurology and neuromuscular diseases
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Publications (7)

|Apr 01, 2025
Structural Evaluation of <i>RYR2</i>-CPVT Missense Variants and Continuous Bayesian Estimates of their Penetrance.

Kohei Yamauchi, Matthew Ku, Devyn W Mitchell

|Feb 20, 2025
Calibrated Functional Data Decreases Clinical Uncertainty for <i>KCNH2</i>-related Long QT Syndrome.

Chai-Ann Ng, Matthew J O'Neill, Samskruthi R Padigepati

|Jul 02, 2024
Multisite Validation of a Functional Assay to Adjudicate <i>SCN5A</i> Brugada Syndrome-Associated Variants.

Joanne G Ma, Matthew J O'Neill, Ebony Richardson

|Feb 19, 2024
Multiplexed Assays of Variant Effect and Automated Patch-clamping Improve <i>KCNH2</i>-LQTS Variant Classification and Cardiac Event Risk Stratification.

Matthew J O'Neill, Chai-Ann Ng, Takanori Aizawa

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