Towards a New, Endophenotype-Based Strategy for Pathogenicity Prediction in BRCA1 and BRCA2: In Silico Modeling of the Outcome of HDR/SGE Assays for Missense Variants

by Selen Özkan, Natàlia Padilla, Xavier de la Cruz
Published 2021-06-01

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

by Elena Álvarez de la Campa, Natàlia Padilla, Xavier de la Cruz
Published 2017-08-01

The (in)dependence of alternative splicing and gene duplication.

by David Talavera, Christine Vogel, Modesto Orozco, Sarah A Teichmann, Xavier de la Cruz
Published 2007-03-01

Structural and Computational Characterization of Disease-Related Mutations Involved in Protein-Protein Interfaces

by Dàmaris Navío, Mireia Rosell, Josu Aguirre, Xavier de la Cruz, Juan Fernández-Recio
Published 2019-03-01

The relationship between gene isoform multiplicity, number of exons and protein divergence.

by Jordi Morata, Santi Béjar, David Talavera, Casandra Riera, Sergio Lois, Gemma Mas de Xaxars, Xavier de la Cruz
Published 2013-01-01

EZH2 regulates neuroepithelium structure and neuroblast proliferation by repressing p21

by Naiara Akizu, María Alejandra García, Conchi Estarás, Raquel Fueyo, Carmen Badosa, Xavier de la Cruz, Marian A. Martínez-Balbás
Published 2016-01-01

Molecular dynamics study of naturally existing cavity couplings in proteins.

by Montserrat Barbany, Tim Meyer, Adam Hospital, Ignacio Faustino, Marco D'Abramo, Jordi Morata, Modesto Orozco, Xavier de la Cruz
Published 2015-01-01

FHLdb: A Comprehensive Database on the Molecular Basis of Familial Hemophagocytic Lymphohistiocytosis

by Laura Viñas-Giménez, Laura Viñas-Giménez, Natàlia Padilla, Laura Batlle-Masó, Laura Batlle-Masó, Ferran Casals, Jacques G. Rivière, Jacques G. Rivière, Mónica Martínez-Gallo, Mónica Martínez-Gallo, Xavier de la Cruz, Xavier de la Cruz, Roger Colobran, Roger Colobran, Roger Colobran
Published 2020-01-01

Case Report: Characterizing the Role of the STXBP2-R190C Monoallelic Mutation Found in a Patient With Hemophagocytic Syndrome and Langerhans Cell Histiocytosis

by Laura Viñas-Giménez, Laura Viñas-Giménez, Laura Viñas-Giménez, Rafael Rincón, Roger Colobran, Roger Colobran, Roger Colobran, Roger Colobran, Xavier de la Cruz, Xavier de la Cruz, Verónica Paola Celis, José Luis Dapena, Laia Alsina, Joan Sayós, Mónica Martínez-Gallo, Mónica Martínez-Gallo, Mónica Martínez-Gallo
Published 2021-09-01

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

by Sandra Brasil, Fátima Leal, Ana Vega, Rosa Navarrete, María Jesús Ecay, Lourdes R. Desviat, Casandra Riera, Natàlia Padilla, Xavier de la Cruz, Mari Luz Couce, Elena Martin-Hernández, Ana Morais, Consuelo Pedrón, Luis Peña-Quintana, Miriam Rigoldi, Norma Specola, Isabel Tavares de Almeida, Inmaculada Vives, Raquel Yahyaoui, Pilar Rodríguez-Pombo, Magdalena Ugarte, Celia Pérez-Cerda, Begoña Merinero, Belén Pérez
Published 2018-07-01