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="Feillet, Francois" or (type exact bookEditor and editor="Feillet, Francois") Add to list Journal Article A1 open access A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing Anne-Sophie Denommé-Pichon, Leslie Matalonga, Elke de Boer, Adam Jackson, Elisa Benetti, Siddharth Banka, Ange-Line Bruel, Andrea Ciolfi, Jill Clayton-Smith, Bruno Dallapiccola, et al. (2023) GENETICS IN MEDICINE. 25(4). 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