Development of pathogenicity predictors specific for variants that do not comply with clinical guidelines for the use of computational evidence

Por de la Campa, Elena Álvarez, Padilla, Natàlia, de la Cruz, Xavier
Publicado no BMC Genomics (2017)

SeMPI: a genome-based secondary metabolite prediction and identification web server

Por Zierep, Paul F., Padilla, Natàlia, Yonchev, Dimitar G., Telukunta, Kiran K., Klementz, Dennis, Günther, Stefan
Publicado no Nucleic Acids Res (2017)

BRCA1- and BRCA2-specific in silico tools for variant interpretation in the CAGI 5 ENIGMA challenge

Por Padilla, Natàlia, Moles-Fernández, Alejandro, Riera, Casandra, Montalban, Gemma, Özkan, Selen, Ootes, Lars, Bonache, Sandra, Díez, Orland, Gutiérrez-Enríquez, Sara, de la Cruz, Xavier
Publicado no Hum Mutat (2019)

PHF2 histone demethylase prevents DNA damage and genome instability by controlling cell cycle progression of neural progenitors

Por Pappa, Stella, Padilla, Natalia, Iacobucci, Simona, Vicioso, Marta, Álvarez de la Campa, Elena, Navarro, Claudia, Marcos, Elia, de la Cruz, Xavier, Martínez-Balbás, Marian A.
Publicado no Proc Natl Acad Sci U S A (2019)

Resuscitative endovascular balloon occlusion of the aorta deployed by acute care surgeons in patients with morbidly adherent placenta: a feasible solution for two lives in peril

Por Manzano-Nunez, Ramiro, Escobar-Vidarte, Maria F., Orlas, Claudia P., Herrera-Escobar, Juan P., Galvagno, Samuel M., Melendez, Juan J., Padilla, Natalia, McCarty, Justin C., Nieto, Albaro J., Ordoñez, Carlos A.
Publicado no World J Emerg Surg (2018)

Epigenetic signature for attention-deficit/hyperactivity disorder: identification of miR-26b-5p, miR-185-5p, and miR-191-5p as potential biomarkers in peripheral blood mononuclear...

Por Sánchez-Mora, Cristina, Soler Artigas, María, Garcia-Martínez, Iris, Pagerols, Mireia, Rovira, Paula, Richarte, Vanesa, Corrales, Montse, Fadeuilhe, Christian, Padilla, Natàlia, de la Cruz, Xavier, Franke, Barbara, Arias-Vásquez, Alejandro, Casas, Miguel, Ramos-Quiroga, Josep-Antoni, Ribasés, Marta
Publicado no Neuropsychopharmacology (2018)

Improving the diagnosis of cobalamin and related defects by genomic analysis, plus functional and structural assessment of novel variants

Por Brasil, Sandra, Leal, Fátima, Vega, Ana, Navarrete, Rosa, Ecay, María Jesús, Desviat, Lourdes R., Riera, Casandra, Padilla, Natàlia, de la Cruz, Xavier, Couce, Mari Luz, Martin-Hernández, Elena, Morais, Ana, Pedrón, Consuelo, Peña-Quintana, Luis, Rigoldi, Miriam, Specola, Norma, de Almeida, Isabel Tavares, Vives, Inmaculada, Yahyaoui, Raquel, Rodríguez-Pombo, Pilar, Ugarte, Magdalena, Pérez-Cerda, Celia, Merinero, Begoña, Pérez, Belén
Publicado no Orphanet J Rare Dis (2018)

Assessment of blind predictions of the clinical significance of BRCA1 and BRCA2 variants

Por Cline, Melissa S., Babbi, Giulia, Bonache, Sandra, Cao, Yue, Casadio, Rita, de la Cruz, Xavier, Díez, Orland, Gutiérrez-Enríquez, Sara, Katsonis, Panagiotis, Lai, Carmen, Lichtarge, Olivier, Martelli, Pier Luigi, Mishne, Gilad, Moles-Fernández, Alejandro, Montalban, Gemma, Mooney, Sean D., O’Conner, Robert, Ootes, Lars, Özkan, Selen, Padilla, Natalia, Pagel, Kymberleigh A., Pejaver, Vikas, Radivojac, Predrag, Riera, Casandra, Savojardo, Castrense, Shen, Yang, Sun, Yuanfei, Topper, Scott, Parsons, Michael T., Spurdle, Amanda B., Goldgar, David E.
Publicado no Hum Mutat (2019)