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="Matalonga, Leslie" or (type any "bookEditor issueEditor" and editor="Matalonga, Leslie") 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 open access Genome-wide variant calling in reanalysis of exome sequencing data uncovered a pathogenic TUBB3 variant Elke de Boer, Burcu Yaldiz, Anne-Sophie Denomme-Pichon, Leslie Matalonga, Steve Laurie, Wouter Steyaert (UGent) , Rick de Reuver, Christian Gilissen, Michael Kwint, Rolph Pfundt, et al. (2022) EUROPEAN JOURNAL OF MEDICAL GENETICS. 65(1).