Congenital Titinopathy: Comprehensive characterization and pathogenic insightsEmily C. Oates, Susan T. Iannaccone, Susan Brammah et al.|Annals of Neurology|2018Cited by 164
Variants in the Oxidoreductase PYROXD1 Cause Early-Onset Myopathy with Internalized Nuclei and Myofibrillar DisorganizationGina O’Grady, Sandra T. Cooper, Heather Best et al.|The American Journal of Human Genetics|2016Cited by 106