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American Journal of Human Genetics|July 31, 2024
RNA variant assessment using transactivation and transdifferentiationEmmylou C Nicolas-Martinez, Olivia Robinson, Christian Pflueger, et al.Biorxiv : the Preprint Server for Biology|June 9, 2023
Ablation ofBryanna Shao, Mason Killion, Ashton Oliver, et al.Journal of the American College of Cardiology|June 2, 2022
Precision Phenotyping of Dilated Cardiomyopathy Using Multidimensional DataUpasana Tayal, Job A J Verdonschot, Mark R Hazebroek, et al.Journal of Cellular Physiology|May 21, 2024
Ablation of Sam50 is associated with fragmentation and alterations in metabolism in murine and human myotubesBryanna Shao, Mason Killion, Ashton Oliver, et al.Neurology. Genetics|May 12, 2021
WGS and RNA Studies Diagnose Noncoding DMD Variants in Males With High Creatine KinaseLeigh B Waddell, Samantha J Bryen, Beryl B Cummings, et al.Genome Medicine|May 21, 2025
Untargeted proteomics enables ultra-rapid variant prioritisation in mitochondrial and other rare diseasesDaniella H Hock, Nikeisha J Caruana, Liana N Semcesen, et al.Journal of Inherited Metabolic Disease|July 25, 2019
Clinical presentation and proteomic signature of patients with TANGO2 mutationsNadja Mingirulli, Angela Pyle, Denisa Hathazi, et al.JACC. Clinical Electrophysiology|April 24, 2025
Intercalated Disc Abnormalities Are Linked to Arrhythmias in Inflammatory CardiomyopathyGiovanni Peretto, Stefania Rizzo, Andrea Menegon, et al.Circulation|September 26, 2022
Genetic Architecture of Acute Myocarditis and the Overlap With Inherited CardiomyopathyAmrit S Lota, Mark R Hazebroek, Pantazis Theotokis, et al.Nature|March 23, 2023
Continent-wide declines in shallow reef life over a decade of ocean warmingGraham J Edgar, Rick D Stuart-Smith, Freddie J Heather, et al.Pageof 84