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SaveUnmasking Compound Heterozygosity in GYG1 Myopathy: Diagnostic Insights From RNA-Seq and Long-Read Genomics
Panwar, Deepak; Farris, Joseph D.; Schmidt, Danielle; Blake, Emily J.; Tan, Jia W.; Naddaf, Elie; Sonnen, Joshua; Vairo, Filippo Pinto e; Lambert, Laura J.; Wierenga, Klaas J.; Muthusamy, Karthik; Klee, Eric W. Share Save Share Save Prevalence, Penetrance, and Phenotypic Manifestation of Cardiomyopathy-Associated Genetic Variants in the General Population: Insights from a Mayo Clinic Biobank StudyFigueiral, Marta; Paldino, Alessia; Wilke, Matheus Vernet Machado Bressan; Farris, Joseph D.; Verheijen, Jan; Giudicessi, John R.; Ackerman, Michael J.; Olson, Janet E.; Arroyo, Jennifer; Olson, Rory J.; Klee, Eric W.; Pereira, Naveen L. Share Save Pathogenic variants in GCSH encoding the moonlighting H-protein cause combined nonketotic hyperglycinemia and lipoate deficiencyArribas-Carreira, Laura; Dallabona, Cristina; Swanson, Michael A.; Farris, Joseph; Ostergaard, Elsebet; Tsiakas, Konstantinos; Hempel, Maja; Aquaviva-Bourdain, Cecile; Koutsoukos, Stefanos; Stence, Nicholas, V; Magistrati, Martina; Spector, Elaine B.; Kronquist, Kathryn; Christensen, Mette; Karstensen, Helena G.; Feichtinger, Rene G.; Achleitner, Melanie T.; Merritt, J. Lawrence; Perez, Belen; Ugarte, Magdalena; Grunewald, Stephanie; Riela, Anthony R.; Julve, Natalia; Arnoux, Jean-Baptiste; Haldar, Kasturi; Donnini, Claudia; Santer, Rene; Lund, Allan M.; Mayr, Johannes A.; Rodriguez-Pombo, Pilar; Van Hove, Johan L. K. Share Save Share Save Share Save 
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