Dianalee McKnight

The landscape of reported VUS in multi-gene panel and genomic testing: Time for a change

The paper analyzes VUS rates in genetic testing and finds lower rates in exome/genome sequencing compared to multi-gene panels, suggesting improvements in variant reporting practices.

Computation of longitudinal phenotypes in 466 individuals with a developmental and epileptic encephalopathy enables clinical trial readiness

The paper computes longitudinal phenotypes in 466 individuals with developmental and epileptic encephalopathies to improve clinical trial readiness using electronic health records.

High-throughput Evaluation of Epilepsy-associated KCNQ2 Variants Reveals Functional and Pharmacological Heterogeneity

This study evaluates 79 KCNQ2 variants using automated patch clamp recording, revealing functional and pharmacological heterogeneity and genotype-dependent retigabine responses.

High throughput Characterization of KCNB1 variants Associated with Developmental and Epileptic Encephalopathy

This study evaluates 17 KCNB1 variants associated with DEE and NDD using high-throughput assays to identify functional defects in Kv2.1 channels.

Genetic variant pathogenicity prediction trained using disease-specific clinical sequencing datasets

The paper introduces a disease-specific variant pathogenicity predictor trained on clinical sequencing data from cardiomyopathy, epilepsy, and RASopathies patients.