Reshma R Desai

4PUBLICATIONS
19CO-AUTHORS
Gene expression (incl. microarray and other genome-wide approaches)Neurology and neuromuscular diseasesCell and nuclear division
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Publications (4)

|Jul 21, 2026
Classification models for KCNQ1 variants distinguish functional and trafficking effects to enhance pathogenicity interpretation.

|Nov 24, 2025
Classification models distinguish functional and trafficking effects of KCNQ1 variants to enhance variant interpretation.

Ana C Chang-Gonzalez, Eric W Bell, Carlos G Vanoye

|Nov 07, 2025
Functional Profiling of KCNE1 Variants Informs Population Carrier Frequency of Jervell and Lange-Nielsen Syndrome Type 2.

Carlos G Vanoye, Reshma R Desai, Jordan D John

|Feb 19, 2025
Integrative analysis of KCNQ1 variants reveals molecular mechanisms of type 1 long QT syndrome pathogenesis.

Kathryn R Brewer, Carlos G Vanoye, Hui Huang

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Frequent Collaborators

4 joint publications

Carlos G Vanoye

4 joint publications

Alfred L George

4 joint publications

Charles R Sanders

2 joint publications

Kathryn R Butcher