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Publications

  • Beneto N, Vilageliu L, Grinberg-Vaisman DR and Canals I.

    Sanfilippo Syndrome: Molecular Basis, Disease Models and Therapeutic Approaches.

    INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES . 21(21): .

    [doi:10.3390/ijms21217819]

  • Dimitriou E, Moraitou M, Cozar M, Serra-Vinardell J, Vilageliu L, Grinberg-Vaisman DR, Mavridou I and Michelakakis H.

    Gaucher disease: Biochemical and molecular findings in 141 patients diagnosed in Greece.

    Molecular genetics and metabolism reports . 24: 100614-100614.

    [doi:10.1016/j.ymgmr.2020.100614]

  • Castilla-Vallmanya L, Selmer KK, Dimartino C, Raquel Rabionet Janssen, Blanco-Sánchez B, Yang S, Reijnders MRF, van Essen AJ, Oufadem M, Vigeland MD, Stadheim B, Houge G, Cox H, Kingston H, Clayton-Smith J, Innis JW, Iascone M, Cereda A, Gabbiadini S, Chung WK, Sanders V, Charrow J, Bryant E, Millichap J, Vitobello A, Thauvin C, Mau-Them FT, Faivre L, Lesca G, Labalme A, Rougeot C, Chatron N, Sanlaville D, Christensen KM, Kirby A, Lewandowski R, Gannaway R, Aly M, Lehman A, Clarke L, Graul-Neumann L, Zweier C, Lessel D, Lozic B, Aukrust I, Peretz R, Stratton R, Smol T, Dieux-Coëslier A, Meira J, Wohler E, Sobreira N, Beaver EM, Heeley J, Briere LC, High FA, Sweetser DA, Walker MA, Keegan CE, Jayakar P, Shinawi M, Kerstjens-Frederikse WS, Earl DL, Siu VM, Reesor E, Yao T, Hegele RA, Vaske OM, Rego S, Undiagnosed Diseases Network, Care4Rare Canada Consortium, Shapiro KA, Wong B, Gambello MJ, McDonald M, Karlowicz D, Colombo R, Serretti A, Pais L, O'Donnell-Luria A, Wray A, Sadedin S, Chong B, Tan TY, Christodoulou J, White SM, Slavotinek A, Barbouth D, Morel Swols D, Parisot M, Bole-Feysot C, Nitschké P, Pingault V, Munnich A, Cho MT, Cormier-Daire V, Balcells S, Lyonnet S, Grinberg-Vaisman DR, Amiel J, Urreizti R and Gordon CT.

    Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7.

    GENETICS IN MEDICINE . 22(7): 1215-1226.

    [doi:10.1038/s41436-020-0792-7]

  • Beneto N, Cozar M, Castilla-Vallmanya L, Zetterdahl OG, Sacultanu M, Segur-Bailach E, García-Morant M, Ribes A, Ahlenius H, Grinberg-Vaisman DR, Vilageliu L and Canals I.

    Neuronal and Astrocytic Differentiation from Sanfilippo C Syndrome iPSCs for Disease Modeling and Drug Development.

    Journal of Clinical Medicine . 9(3): .

    [doi:10.3390/jcm9030644]

  • Urreizti R, Lopez-Martin E, Martinez-Monseny T, Pujadas M, Castilla-Vallmanya L, Pérez-Jurado LA, Serrano M, Natera-de Benito D, Martínez-Delgado B, Posada-de-la-Paz M, Alonso J, Marin-Reina P, O'Callaghan-Gordo M, Grinberg-Vaisman DR, Bermejo-Sánchez E and Balcells S.

    Five new cases of syndromic intellectual disability due to KAT6A mutations: widening the molecular and clinical spectrum.

    ORPHANET JOURNAL OF RARE DISEASES . 15(1): 44-44.

    [doi:10.1186/s13023-020-1317-9]

  • Castellanos E, Rosas I, Negro A, Gel B, Alibés A, Baena N, Pineda M, Pi G, Pintos G, Salvador-Hernandez H, Lazaro C, Blanco I, Vilageliu L, Brems H, Grinberg-Vaisman DR, Legius E and Serra E.

    Mutational spectrum by phenotype: panel-based NGS testing of patients with clinical suspicion of RASopathy and children with multiple café-au-lait macules.

    CLINICAL GENETICS . 97(2): 264-275.

    [doi:10.1111/cge.13649]

  • Beneto N, Cozar M, Gort L, Pacheco L, Vilageliu L, Grinberg-Vaisman DR and Canals I.

    Generation of two NAGLU-mutated homozygous cell lines from healthy induced pluripotent stem cells using CRISPR/Cas9 to model Sanfilippo B syndrome.

    STEM CELL RES . 42: 101668-101668.

    [doi:10.1016/j.scr.2019.101668]

  • Leon E, Diaz J, Castilla-Vallmanya L, Grinberg-Vaisman DR, Balcells S and Urreizti R.

    Extending the phenotypic spectrum of Bohring-Opitz syndrome: Mild case confirmed by functional studies.

    AMERICAN JOURNAL OF MEDICAL GENETICS PART A . 182(1): 201-204.

    [doi:10.1002/ajmg.a.61397]

  • Urreizti R, Mayer K, Evrony GD, Said E, Castilla-Vallmanya L, Cody NAL, Plasencia G, Gelb BD, Grinberg-Vaisman DR, Brinkmann U, Webb BD and Balcells S.

    Correction: DPH1 syndrome: two novel variants and structural and functional analyses of seven missense variants identified in syndromic patients.

    EUROPEAN JOURNAL OF HUMAN GENETICS . 28(1): 138-138.

    [doi:10.1038/s41431-019-0394-5]

  • Serra-Vinardell J, Roca N, De-Ugarte L, Vilageliu L, Balcells S and Grinberg-Vaisman DR.

    Bone development and remodeling in metabolic disorders.

    JOURNAL OF INHERITED METABOLIC DISEASE . 43(1): 133-144.

    [doi:10.1002/jimd.12097]