Show 10 5 10 15 20 50 100 250 Sort by year (new to old) Actions Download search results Subscribe to news feed Your filters: cql: author="Metodiev, Metodi D*" or (type exact bookEditor and editor="Metodiev, Metodi D*") Add to list Miscellaneous Integration of proteomics with genomics and transcriptomics increases the diagnostic rate of Mendelian disorders Robert Kopajtich, Dmitrii Smirnov, Sarah L. Stenton, Stefan Loipfinger, Chen Meng, Ines F. Scheller, Peter Freisinger, Robert Baski, Riccardo Berutti, Jürgen Behr, et al. (2021) medRxiv. Add to list Journal Article A1 Mutations in GTPBP3 cause a mitochondrial translation defect associated with hypertrophic cardiomyopathy, lactic acidosis, and encephalopathy Robert Kopajtich, Thomas J Nicholls, Joanna Rorbach, Metodi D Metodiev, Peter Freisinger, Hanna Mandel, Arnaud Vanlander (UGent) , Daniele Ghezzi, Rosalba Carrozzo, Robert W Taylor, et al. (2014) AMERICAN JOURNAL OF HUMAN GENETICS. 95(6). p.708-720