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Clinical Chemistry|August 11, 2023
Confirmation of Insertion, Deletion, and Deletion-Insertion Variants Detected by Next-Generation SequencingLauren A Choate, Alaa Koleilat, Kimberley Harris, et al.
JCI Insight|March 6, 2019
Cardiac hypertrophy and arrhythmia in mice induced by a mutation in ryanodine receptor 2Francisco J Alvarado, J Martijn Bos, Zhiguang Yuchi, et al.
Circulation. Arrhythmia and Electrophysiology|October 16, 2012
A novel disease gene for Brugada syndrome: sarcolemmal membrane-associated protein gene mutations impair intracellular trafficking of hNav1.5Taisuke Ishikawa, Akinori Sato, Cherisse A Marcou, et al.
American Journal of Medical Genetics. Part A|January 18, 2024
Complex balanced intrachromosomal rearrangement involving PITX2 identified as a cause of Axenfeld-Rieger SyndromeJoseph Farris, Cheryl Khanna, James B Smadbeck, et al.
SLAS Technology|January 21, 2022
Automation of hybridization and capture based next generation sequencing library preparation requires reduction of on-deck bead binding and heated wash temperaturesEric Zimmerman Zuckerman, Joseph A Thompson, Amber R Schneider, et al.
The Journal of Molecular Diagnostics : JMD|April 23, 2023
Clinical Validation of Tagmentation-Based Genome Sequencing for Germline DisordersWei Shen, Heidi L Sellers, Lauren A Choate, et al.
American Journal of Physiology. Heart and Circulatory Physiology|March 21, 2020
Abnormal myocardial expression of SAP97 is associated with arrhythmogenic riskHassan Musa, Cherisse A Marcou, Todd J Herron, et al.
Circulation. Genomic and Precision Medicine|June 7, 2022
Wnt Signaling Interactor WTIP (Wilms Tumor Interacting Protein) Underlies Novel Mechanism for Cardiac HypertrophyHannah N De Jong, Frederick E Dewey, Pablo Cordero, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 4, 2020
Impact of integrated translational research on clinical exome sequencingEric W Klee, Margot A Cousin, Filippo Pinto E Vairo, et al.
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