UMD‐Predictor: A High‐Throughput Sequencing Compliant System for Pathogenicity Prediction of any Human cDNA Substitution

Por Salgado, David, Desvignes, Jean‐Pierre, Rai, Ghadi, Blanchard, Arnaud, Miltgen, Morgane, Pinard, Amélie, Lévy, Nicolas, Collod‐Béroud, Gwenaëlle, Béroud, Christophe
Publicado no Hum Mutat (2016)

A Case of IL-7R Deficiency Caused by a Novel Synonymous Mutation and Implications for Mutation Screening in SCID Diagnosis

Por Gallego-Bustos, Fernando, Gotea, Valer, Ramos-Amador, José T., Rodríguez-Pena, Rebeca, Gil-Herrera, Juana, Sastre, Ana, Delmiro, Aitor, Rai, Ghadi, Elnitski, Laura, González-Granado, Luis I., Allende, Luis M.
Publicado no Front Immunol (2016)