Exome sequencing identifies a new mutation in SERAC1 in a patient with 3-methylglutaconic aciduriaFrederic Tort, Antònia Ribes, Joaquı́n Dopazo et al.|Molecular Genetics and Metabolism|2013Cited by 39
The Mutational Landscape of Acute Promyelocytic Leukemia Reveals an Interacting Network of Co-Occurrences and Recurrent MutationsMariam Ibáñez, José Cervera, José Carbonell‐Caballero et al.|PLoS ONE|2016Cited by 32
Analysis pipeline for the detection of mutations causative of rare diseases on whole exome sequencing dataAntonio Rueda, Javier Santoyo‐López, Francisco J. López et al.|EMBnet journal|2013Cited by 0
Detecting high quality variants from color-space dataFrancisco-Javier Lopez, Javier Santoyo‐López, Antonio Rueda et al.|F1000Research|2013Cited by 0