Whole exome sequencing analysis pipeline for the discovery of mutations causative of human rare diseases. - Francisco Javier Lopez Domingo; Antonio Rueda Martin; Javier Perez-Florido; Alicia Vela Boza; Pablo Arce Garcia; Luis Miguel Cruz Renedo; Javier Escalante; Ana Isabel Lopez Perez; Federica Trombetta; Guillermo Antiñolo; Javier Santoyo-Lopez (IWBBIO, 2013)

CSVS, a crowdsourcing database of the Spanish population genetic variability. - María Peña-Chilet; Gema Roldán; Javier Perez-Florido; Francisco M. Ortuño; Rosario Carmona; Virginia Aquino; Daniel López-López; Carlos Loucera; Jose Luis Fernandez-Rueda; Asunción Gallego; Francisco García-García 002; Anna González-Neira; et al. (Nucleic Acids Res., 2021)