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Preprints
, 2025, Calibrated Functional Data Decreases Clinical Uncertainty for KCNH2-related Long QT Syndrome., http://dx.doi.org/10.1101/2025.02.05.25321617
, A calibrated functional patch clamp assay to enhance clinical variant interpretation in KCNH2-related long QT syndrome, http://dx.doi.org/10.1101/2021.12.13.472492
, Calibrated high-throughput electrophysiology enables clinical interpretation of CACNA1G missense variants, http://dx.doi.org/10.64898/2026.05.10.724145
, Clinical interpretation of KCNH2 variants using a robust PS3/BS3 functional patch clamp assay, http://dx.doi.org/10.1101/2023.10.08.23296707
, Cohort-scale automated patch clamp data improves variant classification and penetrance stratification for SCN5A-Brugada Syndrome, http://dx.doi.org/10.1101/2025.03.09.25323605
, Gene-Corrected Basal Cells Restore CFTR In Vitro; Transplants Regenerate Epithelium in a Preclinical Sinus Model, http://dx.doi.org/10.1101/2025.07.21.666023
, High-throughput discovery of trafficking-deficient variants in the cardiac potassium channel KCNH2: Deep mutational scan of KCNH2 trafficking, http://dx.doi.org/10.1101/2020.02.17.952606
, Mapping the Functional Landscape of KCNQ1 to Define Ion Channel Mechanisms and Arrhythmia Risk, http://dx.doi.org/10.64898/2025.12.15.25341924
, Modified N-linked glycosylation status predicts trafficking defective human Piezo1 channel mutations, http://dx.doi.org/10.1101/2020.11.30.404962
, Multiplexed Assays of Variant Effect and Automated Patch-clamping Improve KCNH2-LQTS Variant Classification and Cardiac Event Risk Stratification, http://dx.doi.org/10.1101/2024.02.01.24301443
, Potassium dependent structural changes in the selectivity filter of HERG potassium channels, http://dx.doi.org/10.1101/2023.12.14.571769
, Reclassification of a likely pathogenic Dutch founder variant in KCNH2; implications of reduced penetrance, http://dx.doi.org/10.1101/2022.08.05.502917
, Structural Basis for Rapid Voltage Dependent Inactivation of HERG Potassium Channels, http://dx.doi.org/10.21203/rs.3.rs-1105661/v1