| Derechos | Preview | Fecha Public. | Título | Autor(es) | Tipo |
| openAccess |  | 11-ago-2017 | Development of pathogenicity predictors specific for variants that do not comply with clinical guidelines for the use of computational evidence | Álvarez de la Campa, Elena CSIC; Padilla, Natàlia; Cruz, Xavier de la CSIC ORCID | artículo |
| openAccess |  | 31-ene-2020 | FHLdb: A Comprehensive Database on the Molecular Basis of Familial Hemophagocytic Lymphohistiocytosis | Viñas-Giménez, Laura; Padilla, Natàlia; Batlle-Masó, Laura CSIC ORCID; Casals, Ferran CSIC ORCID; Rivière, Jacques G.; Martínez-Gallo, Mónica; Cruz, Xavier de la CSIC ORCID; Colobran, Roger | artículo |
| openAccess | | 11-jul-2023 | Gain and loss of function variants in EZH1 disrupt neurogenesis and cause dominant and recessive neurodevelopmental disorders | Gracia-Díaz, Carolina; Zhou, Yijing; Yang, Qian; Maroofian, Reza; España-Bonilla, Paula; Lee, Chul-Hwan; Zhang, Shuo; Padilla, Natàlia; Fueyo, Raquel CSIC ORCID; Waxman, Elisa A.; Lei, Sunyimeng; Otrimski, Garrett; Li, Dong; Sheppard, Sarah E.; Mark, Paul; Harr, Margaret H.; Hakonarson, Hakon; Rodan, Lance; Jackson, Adam; Vasudevan, Pradeep; Powel, Corrina; Mohammed, Shehla; Maddirevula, Sateesh; Alzaidan, Hamad; Faqeih, Eissa A.; Efthymiou, Stephanie; Turchetti, Valentina; Rahman, Fátima; Maqbool, Shazia; Salpietro, Vincenzo; Ibrahim, Shahnaz H.; di Rosa, Gabriella; Houlden, Henry; Alharbi, Maha Nasser; Al-Sannaa, Nouriya Abbas; Bauer, Peter; Zifarelli, Giovanni; Estaras, Conchi; Hurst, Anna C. E.; Thompson, Michelle L.; Chassevent, Anna; Smith-Hicks, Constance L.; Cruz, Xavier de la CSIC ORCID; Holtz, Alexander M.; Elloumi, Houda Zghal; Hajianpour, M. J.; Rieubland, Claudine; Braun, Dominique; Banka, Siddharth; French, Deborah L.; Heller, Elizabeth A.; Saade, Murielle CSIC ORCID ; Song, Hongjun; Ming, Guo-Li; Alkuraya, Fowzan S.; Agrawal, Pankaj B.; Reinberg, Danny; Bhoj, Elizabeth J.; Martínez-Balbás, Marian CSIC ORCID ; Akizu, Naiara | artículo |
| openAccess |  | 24-jul-2018 | Improving the diagnosis of cobalamin and related defects by genomic analysis, plus functional and structural assessment of novel variants | Brasil, Sandra CSIC ORCID; Leal, Fátima CSIC; Vega, Ana; Navarrete, Rosa; Ecay, María J.; Desviat, Lourdes R. CSIC ORCID; Riera, Casandra; Padilla, Natàlia; de la Cruz, Xavier; Couce, María Luz; Martín-Hernández, Elena; Morais, Ana; Pedrón, Consuelo; Peña-Quintana, Luis; Rigoldi, Miriam; Specola, Norma; de Almeida, Isabel T.; Vives, Inmaculada; Yahyaoui, Raquel; Rodríguez-Pombo, Pilar CSIC ORCID; Ugarte, Magdalena CSIC ; Pérez-Cerdá, Celia; Merinero, Begoña CSIC; Pérez, Belén CSIC ORCID | artículo |
| openAccess |  | 24-sep-2019 | PHF2 histone demethylase prevents DNA damage and genome instability by controlling cell cycle progression of neural progenitors | Pappa, Stella CSIC ; Padilla, Natàlia; Lacobucci, Simona; Vicioso Mantis, Marta CSIC ORCID ; Álvarez de la Campa, Elena CSIC; Navarro, Claudia CSIC ORCID; Marcos, Elia; Cruz, Xavier de la CSIC ORCID; Martínez-Balbás, Marian CSIC ORCID | artículo |
| openAccess |  | jun-2021 | The histone demethylase PHF8 regulates astrocyte differentiation and function | Iacobucci, Simona CSIC ; Padilla, Natàlia; Gabrielli, Martina; Navarro, Claudia CSIC ORCID; Lombardi, Marta; Vicioso Mantis, Marta CSIC ORCID ; Verderio, Claudia; Cruz, Xavier de la CSIC ORCID; Martínez-Balbás, Marian CSIC ORCID | artículo |
