Publicaciones
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Ortíz-Maldonado V, Rives-Solà S, Castellà M, Alonso-Saladrigues A, Benítez-Ribas D, Caballero-Baños M, Baumann T, Jordi Cid Colom, Garcia-Rey E, Llanos C, Torrebadell-Burriel M, Villamor N, Giné E, Díaz-Beyá M, Guardia L, Montoro M, Català-Temprano A, Faura A, González EA, Español-Rego M, Klein-González N, Alsina L, Castro P, Jordán-García I, Fernández S, Ramos F, Suñé G, Perpiñá U, Canals JM, Lozano M, Trias E, Scalise A, Varea S, Sáez-Peñataro J, Torres F, Calvo G, Esteve J, Urbano-Ispizua Á, Juan-Otero M and Delgado J.
CART19-BE-01: A Multicenter Trial of ARI-0001 Cell Therapy in Patients with CD19+Relapsed/Refractory Malignancies
MOLECULAR THERAPY . 29(2): 636-644. Nº de citas: 114
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Castells AA, Balada R, Tristan-Noguero A, O'Callaghan-Gordo M, Cortés-Saladelafont E, Pascual-Alonso A, Garcia-Cazorla A, Armstrong-Moron J and Alcántara S.
Unraveling Molecular Pathways Altered in MeCP2-Related Syndromes, in the Search for New Potential Avenues for Therapy
Biomedicines . 9(2): 148. Nº de citas: 4
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Castiglioni C, Feillet F, Barnerias C, Wiedemann A, Muchart-Lopez J, Cortes F, Hernando-Davalillo C, Montero-Sanchez R, Dupré T, Bruneel A, Seta N, Vuillaumier-Barrot S and Serrano M.
Expanding the phenotype of X-linked SSR4-CDG: Connective tissue implications
HUMAN MUTATION . 42(2): 142-149. Nº de citas: 15
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Cruz-Martínez O, Caloretti V, Salvador-Hernandez H, Celis-Passini V, Santa-María López V, Morales-La Madrid A, Suñol M, Puerta P, Muchart-Lopez J, Krauel L and Lavarino C.
Synchronous choroid plexus papilloma and Wilms tumor in a girl, disclosing a Li-Fraumeni syndrome
HEREDITARY CANCER IN CLINICAL PRACTICE . 19(1): 1-1. Nº de citas: 2
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Nalpas, N, Hoyles, L, Anselm, V, Ganief, T, Martinez-Gili, L, Grau-Páez C, Droste-Borel, I, Davidovic, L, Altafaj, X, Dumas, ME and Macek, B.
An integrated workflow for enhanced taxonomic and functional coverage of the mouse fecal metaproteome
Gut Microbes . 13(1): . Nº de citas: 12
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Ferreira CR, Rahman S, Keller M, Zschocke J and ICIMD Advisory Group.
An international classification of inherited metabolic disorders (ICIMD)
JOURNAL OF INHERITED METABOLIC DISEASE . 44(1): 164-177. Nº de citas: 207
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Uchitel J, Wallace K, Tran L, Abrahamsen T, Hunanyan A, Prange L, Jasien J, Caligiuri L, Pratt M, Rikard B, Fons-Estupina C, De Grandis E, Vezyroglou A, Heinzen EL, Goldstein DB, Vavassori R, Papadopoulou MT, Cocco I, Moré R, Arzimanoglou A, Panagiotakaki E, Mikati MA, Duke AHC Research Group and French AHC Consortium.
Alternating hemiplegia of childhood: evolution over time and mouse model corroboration
brain communications . 3(3): . Nº de citas: 11
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Rubio-Gozalbo, ME, Derks, B, Das, AM, Meyer, U, Moslinger, D, Couce, ML, Empain, A, Ficicioglu, C, Julià-Palacios NA, de los Santos MM, Rivera, IA, Scholl-Burgi, S, Bosch, AM, Cassiman, D, Demirbas, D, Gautschi, M, Knerr, I, Labrune, P, Skouma, A, Verloo, P, Wortmann, SB, Treacy, EP, Timson, DJ and Berry, GT.
Galactokinase deficiency: lessons from the GalNet registry
GENETICS IN MEDICINE . 23(1): 202-210. Nº de citas: 18
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García-Recio A, Santos-Gómez A, Soto D, Julià-Palacios NA, Garcia-Cazorla A, Altafaj X and Olivella M.
GRIN database: A unified and manually curated repertoire of GRIN variants
HUMAN MUTATION . 42(1): 8-18. Nº de citas: 32
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Pijuan-Marquilles J, Rodríguez-Sanz M, Natera-de Benito D, Ortez-Gonzalez CI, Altimir A, Osuna-Lopez M, Roura-Llerda M, Ugalde M, Van de Vondel L, Reina-Castillon J, Fons-Estupina C, Benítez R, Nascimento-Osorio A, Hoenicka J and Palau F.
Translational Diagnostics An In-House Pipeline to Validate Genetic Variants in Children with Undiagnosed and Rare Diseases
JOURNAL OF MOLECULAR DIAGNOSTICS . 23(1): 71-90. Nº de citas: 9