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="Radio, Francesca Clementina" or (type any "bookEditor issueEditor" and editor="Radio, Fra... Add to list Journal Article A1 open access Twist exome capture allows for lower average sequence coverage in clinical exome sequencing Burcu Yaldiz, Erdi Kucuk, Juliet Hampstead, Tom Hofste, Rolph Pfundt, Jordi Corominas Galbany, Tuula Rinne, Helger G. Yntema, Alexander Hoischen, Marcel Nelen, et al. (2023) HUMAN GENOMICS. 17(1). 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 Refinement of the clinical and mutational spectrum of UBE2A deficiency syndrome Viviana Cordeddu, Erica L. Macke, Francesca Clementina Radio, Stefania Lo Cicero, Francesca Pantaleoni, Massimo Tatti, Emanuele Bellacchio, Andrea Ciolfi, Emanuele Agolini, Alessandro Bruselles, et al. (2020) CLINICAL GENETICS. 98(2). p.172-178