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JCI Insight|February 1, 2022
High-throughput evaluation of epilepsy-associated KCNQ2 variants reveals functional and pharmacological heterogeneityCarlos G Vanoye, Reshma R Desai, Zhigang Ji, et al.
Journal of the American College of Cardiology|July 18, 2015
Contractile Function During Angiotensin-II Activation: Increased Nox2 Activity Modulates Cardiac Calcium Handling via Phospholamban PhosphorylationMin Zhang, Benjamin L Prosser, Moradeke A Bamboye, et al.
Science Advances|June 21, 2017
Deregulated Ca<sup>2+</sup> cycling underlies the development of arrhythmia and heart disease due to mutant obscurinLi-Yen R Hu, Maegen A Ackermann, Peter A Hecker, et al.
Nature Medicine|June 13, 2018
Suppression of detyrosinated microtubules improves cardiomyocyte function in human heart failureChristina Yingxian Chen, Matthew A Caporizzo, Kenneth Bedi, et al.
Proceedings of the National Academy of Sciences of the United States of America|July 28, 2025
Rare variants in <i>BMAL1</i> are associated with a neurodevelopmental syndromeVishnu Anand Cuddapah, Dechun Chen, Bumsik Cho, et al.
Epilepsia|April 11, 2023
Review and standard operating procedures for collection of biospecimens and analysis of biomarkers in new onset refractory status epilepticusAurélie Hanin, Jorge Cespedes, Yashwanth Pulluru, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 7, 2019
Targeted gene sequencing in 6994 individuals with neurodevelopmental disorder with epilepsyHenrike O Heyne, Mykyta Artomov, Florian Battke, et al.
Circulation Research|April 11, 2020
Depletion of Vasohibin 1 Speeds Contraction and Relaxation in Failing Human CardiomyocytesChristina Yingxian Chen, Alexander K Salomon, Matthew A Caporizzo, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 18, 2021
Computational analysis of 10,860 phenotypic annotations in individuals with SCN2A-related disordersKatherine Crawford, Julie Xian, Katherine L Helbig, et al.
Plos Genetics|May 27, 2010
Genome-wide copy number variation in epilepsy: novel susceptibility loci in idiopathic generalized and focal epilepsiesHeather C Mefford, Hiltrud Muhle, Philipp Ostertag, et al.
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