PMut: a web-based tool for the annotation of pathological variants on proteins, 2017 update von López-Ferrando, Víctor, Gazzo, Andrea, de la Cruz, Xavier, Orozco, Modesto, Gelpí, Josep Ll

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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... von 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

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Molecular analysis of the novel L243R mutation in STXBP2 reveals impairment of degranulation activity von Viñas-Giménez, Laura, Donadeu, Laura, Alsina, Laia, Rincón, Rafael, de la Campa, Elena Álvarez, Esteve-Sole, Ana, Català, Albert, Colobran, Roger, de la Cruz, Xavier, Sayós, Joan, Martínez-Gallo, Mónica

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EZH2 regulates neuroepithelium structure and neuroblast proliferation by repressing p21 von Akizu, Naiara, García, María Alejandra, Estarás, Conchi, Fueyo, Raquel, Badosa, Carmen, de la Cruz, Xavier, Martínez-Balbás, Marian A.

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The (in)dependence of alternative splicing and gene duplication von Talavera, David, Vogel, Christine, Orozco, Modesto, Teichmann, Sarah A, de la Cruz, Xavier

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PHF2 histone demethylase prevents DNA damage and genome instability by controlling cell cycle progression of neural progenitors von Pappa, Stella, Padilla, Natalia, Iacobucci, Simona, Vicioso, Marta, de la Campa, Elena Álvarez, Navarro, Claudia, Marcos, Elia, de la Cruz, Xavier, Martínez-Balbás, Marian A.

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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 von Özkan, Selen, Padilla, Natàlia, de la Cruz, Xavier

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Characterization of Compensated Mutations in Terms of Structural and Physico-Chemical Properties von Ferrer-Costa, Carles, Orozco, Modesto, Cruz, Xavier de la

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Choosing Variant Interpretation Tools for Clinical Applications: Context Matters von Aguirre, Josu, Padilla, Natàlia, Özkan, Selen, Riera, Casandra, Feliubadaló, Lídia, de la Cruz, Xavier

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New genes involved in Angelman syndrome-like: Expanding the genetic spectrum von Aguilera, Cinthia, Gabau, Elisabeth, Ramirez-Mallafré, Ariadna, Brun-Gasca, Carme, Dominguez-Carral, Jana, Delgadillo, Veronica, Laurie, Steve, Derdak, Sophia, Padilla, Natàlia, de la Cruz, Xavier, Capdevila, Núria, Spataro, Nino, Baena, Neus, Guitart, Miriam, Ruiz, Anna

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Lineage specific transcription factors and epigenetic regulators mediate TGFβ-dependent enhancer activation von Fueyo, Raquel, Iacobucci, Simona, Pappa, Stella, Estarás, Conchi, Lois, Sergio, Vicioso-Mantis, Marta, Navarro, Claudia, Cruz-Molina, Sara, Reyes, José Carlos, Rada-Iglesias, Álvaro, de la Cruz, Xavier, Martínez-Balbás, Marian A

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Development of pathogenicity predictors specific for variants that do not comply with clinical guidelines for the use of computational evidence von de la Campa, Elena Álvarez, Padilla, Natàlia, de la Cruz, Xavier

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Structural and Computational Characterization of Disease-Related Mutations Involved in Protein-Protein Interfaces von Navío, Dàmaris, Rosell, Mireia, Aguirre, Josu, de la Cruz, Xavier, Fernández-Recio, Juan

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Elucidating the molecular basis of MSH2-deficient tumors by combined germline and somatic analysis von Vargas-Parra, Gardenia M, González-Acosta, Maribel, Thompson, Bryony A, Gómez, Carolina, Fernández, Anna, Dámaso, Estela, Pons, Tirso, Morak, Monika, Del Valle, Jesús, Iglesias, Silvia, Velasco, Àngela, Solanes, Ares, Sanjuan, Xavier, Padilla, Natàlia, de la Cruz, Xavier, Valencia, Alfonso, Holinski-Feder, Elke, Brunet, Joan, Feliubadaló, Lídia, Lázaro, Conxi, Navarro, Matilde, Pineda, Marta, Capellá, Gabriel

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Scoring by Intermolecular Pairwise Propensities of Exposed Residues (SIPPER): A New Efficient Potential for Protein−Protein Docking von Pons, Carles, Talavera, David, de la Cruz, Xavier, Orozco, Modesto, Fernandez-Recio, Juan

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The histone demethylase PHF8 is a molecular safeguard of the IFNγ response von Asensio-Juan, Elena, Fueyo, Raquel, Pappa, Stella, Iacobucci, Simona, Badosa, Carmen, Lois, Sergi, Balada, Miriam, Bosch-Presegué, Laia, Vaquero, Alex, Gutiérrez, Sara, Caelles, Carme, Gallego, Carme, de la Cruz, Xavier, Martínez-Balbás, Marian A

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Case Report: Characterizing the Role of the STXBP2-R190C Monoallelic Mutation Found in a Patient With Hemophagocytic Syndrome and Langerhans Cell Histiocytosis von Viñas-Giménez, Laura, Rincón, Rafael, Colobran, Roger, de la Cruz, Xavier, Celis, Verónica Paola, Dapena, José Luis, Alsina, Laia, Sayós, Joan, Martínez-Gallo, Mónica

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FHLdb: A Comprehensive Database on the Molecular Basis of Familial Hemophagocytic Lymphohistiocytosis von Viñas-Giménez, Laura, Padilla, Natàlia, Batlle-Masó, Laura, Casals, Ferran, Rivière, Jacques G, Martínez-Gallo, Mónica, de la Cruz, Xavier, Colobran, Roger

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Molecular dynamics study of naturally existing cavity couplings in proteins von Barbany, Montserrat, Meyer, Tim, Hospital, Adam, Faustino, Ignacio, D'Abramo, Marco, Morata, Jordi, Orozco, Modesto, de la Cruz, Xavier

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Risk of electromagnetic interference induced by dental equipment on cardiac implantable electrical devices von Miranda-Rius, Jaume, Lahor-Soler, Eduard, Brunet-Llobet, Lluís, Sabaté de la Cruz, Xavier

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