Author
Northwestern UniversityORCID 0009-0002-7006-1418Unclaimed ORCID profile · follow to get notified of new preprints
6 papers
Recent·Most cited
Christopher H. Thompson, Christine Q. Simmons, Isabella K. He…·Alfred L. George
The paper investigates functional properties of KCNH1 variants linked to neurodevelopmental disorders, finding most exhibit gain-of-function characteristics.
Carlos G. Vanoye, Reshma R. Desai, Jordan D. John…·Alfred L. George
Ana Cristina Chang-Gonzalez, Eric W. Bell, Carlos G. Vanoye…·Jens Meiler
The paper develops classifiers to distinguish functional and trafficking effects of KCNQ1 variants, improving variant interpretation for LQTS and channelopathies.
Carlos G. Vanoye, Reshma R. Desai, Zhigang Ji…·Alfred L. George
This study evaluates 79 KCNQ2 variants using automated patch clamp recording, revealing functional and pharmacological heterogeneity and genotype-dependent retigabine responses.
Andrew Michael Glazer, Giovanni Davogustto, Christian M. Shaffer…·Dan M. Roden
The paper identifies pathogenic variants in arrhythmia genes in eMERGE-III participants and reclassifies variants of uncertain significance using functional studies.
Carlos G. Vanoye, Reshma R. Desai, Katarina L. Fabre…·Alfred L. George
This study evaluates KCNQ1 variants using high-throughput electrophysiology, classifying 70% of unstudied variants and showing allele frequency is not a reliable predictor of function.