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JCO Clinical Cancer Informatics|October 17, 2019
Open-Sourced CIViC Annotation Pipeline to Identify and Annotate Clinically Relevant Variants Using Single-Molecule Molecular Inversion ProbesErica K Barnell, Adam Waalkes, Matt C Mosior, et al.Molecular Therapy. Methods & Clinical Development|September 24, 2025
Directed evolution of liver-detargeted AAV vectors for systemic gene delivery to skeletal muscle and heartElad Firnberg, Sigmund K S Tejada, Samantha A Yost, et al.The Journal of Clinical Investigation|February 11, 2014
5'RNA-Seq identifies Fhl1 as a genetic modifier in cardiomyopathyDanos C Christodoulou, Hiroko Wakimoto, Kenji Onoue, et al.Human Molecular Genetics|August 27, 2013
Loss of FHL1 induces an age-dependent skeletal muscle myopathy associated with myofibrillar and intermyofibrillar disorganization in miceAndrea A Domenighetti, Pao-Hsien Chu, Tongbin Wu, et al.Human Mutation|April 27, 2022
Large scale genotype- and phenotype-driven machine learning in Von Hippel-Lindau diseaseAndreea Chiorean, Kirsten M Farncombe, Sean Delong, et al.Journal of Virology|October 16, 2023
Characterization and biodistribution of under-employed gene therapy vector AAV7Samantha A Yost, Emre Firlar, Justin D Glenn, et al.The Journal of Trauma and Acute Care Surgery|February 22, 2013
Limb salvage after complex repairs of extremity arterial injuries is independent of surgical specialty trainingSteven R Shackford, Jessica E Kahl, Richard Y Calvo, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 6, 2018
Standard operating procedure for somatic variant refinement of sequencing data with paired tumor and normal samplesErica K Barnell, Peter Ronning, Katie M Campbell, et al.Genome Medicine|November 30, 2019
Standard operating procedure for curation and clinical interpretation of variants in cancerArpad M Danos, Kilannin Krysiak, Erica K Barnell, et al.Annals of Neurology|June 21, 2023
GluK2 Is a Target for Gene Therapy in Drug-Resistant Temporal Lobe EpilepsyCéline Boileau, Severine Deforges, Angélique Peret, et al.Pageof 49