Chai-Ann Ng

Functional analysis enables reclassification of SCN1A missense variants of uncertain significance in epilepsy

This paper uses automated patch-clamp assays to reclassify SCN1A missense variants, changing classifications for 50% of tested variants.

A benign control-calibrated multiparametric functional assay supports CACNA1A variant assessment

This paper develops a calibrated functional assay to assess CACNA1A variants, showing it can accurately classify pathogenic and benign variants with high specificity and sensitivity.

Calibrated high-throughput electrophysiology enables clinical interpretation of CACNA1G missense variants

This paper develops a calibrated electrophysiological framework to classify CACNA1G missense variants, identifying two variants as likely pathogenic and others as benign.

Mapping the Functional Landscape of KCNQ1 to Define Ion Channel Mechanisms and Arrhythmia Risk

The paper maps the functional landscape of KCNQ1 variants to identify pathogenic and benign variants, revealing their impact on arrhythmia risk and ion channel mechanisms.

Cohort-scale automated patch clamp data improves variant classification and penetrance stratification for SCN5A-Brugada Syndrome

The paper uses automated patch clamp data to reclassify SCN5A variants in Brugada Syndrome, improving variant classification and penetrance stratification.

Gene-Corrected Basal Cells Restore CFTR In Vitro; Transplants Regenerate Epithelium in a Preclinical Sinus Model

Calibrated Functional Data Decreases Clinical Uncertainty for KCNH2-related Long QT Syndrome

The paper presents a method to reduce clinical uncertainty in KCNH2-related long QT syndrome by using calibrated functional data to classify variants of uncertain significance.

Prognostic Value of Multiplexed Assays of Variant Effect and Automated Patch-clamping for KCNH2-LQTS Risk Stratification

This paper evaluates how functional variant data and penetrance estimates improve risk stratification for LQTS in KCNH2 missense variant carriers.

Multi-site validation of a functional assay to adjudicate SCN5A Brugada Syndrome-associated variants

The paper validates an in vitro SCN5A Brugada Syndrome assay to reclassify variants of uncertain significance as pathogenic or benign.

Clinical interpretation of KCNH2 variants using a robust PS3/BS3 functional patch clamp assay

The paper establishes a functional patch clamp assay to classify KCNH2 variants in LQTS, using Z-scores to inform ACMG criteria and correlate with clinical scores.

Reclassification of a likely pathogenic Dutch founder variant in KCNH2; implications of reduced penetrance

The paper reclassifies a variant in KCNH2 as a low penetrant likely pathogenic variant for LQTS2 based on biophysical effects and clinical variability.

A calibrated functional patch clamp assay to enhance clinical variant interpretation in KCNH2-related long QT syndrome

This study uses a high-throughput patch-clamp assay to reclassify KCNH2 variants of uncertain significance, providing evidence for clinical interpretation.

High-throughput discovery of trafficking-deficient variants in the cardiac potassium channel KCNH2

This paper introduces a high-throughput method to screen KCNH2 variants for trafficking defects, validating it with multiple assays and showing its utility for identifying loss-of-function variants.