Publications
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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. Number of citations: 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. Number of citations: 14
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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. Number of citations: 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): . Number of citations: 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. Number of citations: 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): . Number of citations: 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. Number of citations: 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. Number of citations: 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. Number of citations: 9
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Casas-Alba D, López-Sala L, Pérez M, Marí-Vico R, Bolasell M, Martinez-Monseny T, Muchart-Lopez J, Fernández-Fernández JM, Martorell-Sampol L and Serrano M.
Early-onset severe spinocerebellar ataxia 42 with neurodevelopmental deficits (SCA42ND): Case report, pharmacological trial, and literature review
AMERICAN JOURNAL OF MEDICAL GENETICS PART A . 185(1): 256-260. Number of citations: 5