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

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

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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

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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

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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

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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 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

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Gain and loss of function variants in EZH1 disrupt neurogenesis and cause dominant and recessive neurodevelopmental disorders by Carolina Gracia-Diaz, Yijing Zhou, Qian Yang, Reza Maroofian, Paula Espana-Bonilla, Chul-Hwan Lee, Shuo Zhang, Natàlia Padilla, Raquel Fueyo, Elisa A. Waxman, Sunyimeng Lei, Garrett Otrimski, Dong Li, Sarah E. Sheppard, Paul Mark, Margaret H. Harr, Hakon Hakonarson, Lance Rodan, Adam Jackson, Pradeep Vasudevan, Corrina Powel, Shehla Mohammed, Sateesh Maddirevula, Hamad Alzaidan, Eissa A. Faqeih, Stephanie Efthymiou, Valentina Turchetti, Fatima Rahman, Shazia Maqbool, Vincenzo Salpietro, Shahnaz H. Ibrahim, Gabriella di Rosa, Henry Houlden, Maha Nasser Alharbi, Nouriya Abbas Al-Sannaa, Peter Bauer, Giovanni Zifarelli, Conchi Estaras, Anna C. E. Hurst, Michelle L. Thompson, Anna Chassevent, Constance L. Smith-Hicks, Xavier de la Cruz, Alexander M. Holtz, Houda Zghal Elloumi, M J Hajianpour, Claudine Rieubland, Dominique Braun, Siddharth Banka, Genomic England Research Consortium, Deborah L. French, Elizabeth A. Heller, Murielle Saade, Hongjun Song, Guo-li Ming, Fowzan S. Alkuraya, Pankaj B. Agrawal, Danny Reinberg, Elizabeth J. Bhoj, Marian A. Martínez-Balbás, Naiara Akizu

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