People / Staff

Daniel Raúl Grinberg Vaisman

Search publications

Publications

  • De-Ugarte, L, Balcells S, Guerri-Fernandez, R, Grinberg-Vaisman DR, Diez-Perez, A, Nogues, X and Garcia-Giralt, N.

    Effect of the Tumor Suppressor miR-320a on Viability and Functionality of Human Osteosarcoma Cell Lines Compared to Primary Osteoblasts

    APPLIED SCIENCES-BASEL . 10(8): . Number of citations: 1

    [doi:10.3390/app10082852]

  • 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. Number of citations: 14

    [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 RESEARCH . 42: 101668-101668. Number of citations: 4

    [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. Number of citations: 5

    [doi:10.1002/ajmg.a.61397]

  • 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. Number of citations: 10

    [doi:10.1002/jimd.12097]

  • 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.

    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): 64-75. Number of citations: 10

    [doi:10.1038/s41431-019-0374-9]

  • Beneto N, Cozar M, García-Morant M, Creus-Bachiller E, Vilageliu L, Grinberg-Vaisman DR and Canals I.

    Generation of two compound heterozygous HGSNAT-mutated lines from healthy induced pluripotent stem cells using CRISPR/Cas9 to model Sanfilippo C syndrome.

    STEM CELL RESEARCH . 41: 101616-101616. Number of citations: 7

    [doi:10.1016/j.scr.2019.101616]

  • Roca N, Martinez-Gil N, Cozar M, Gerousi M, Garcia-Giralt N, Ovejero D, Mellibovsky L, Nogués X, Díez-Pérez A, Grinberg-Vaisman DR and Balcells S.

    Functional characterization of the C7ORF76 genomic region, a prominent GWAS signal for osteoporosis in 7q21.3.

    Bone . 123: 39-47. Number of citations: 9

    [doi:10.1016/j.bone.2019.03.014]

  • Mason S, Castilla-Vallmanya L, James C, Andrews PI, Balcells S, Grinberg-Vaisman DR, Kirk EP and Urreizti R.

    Case report of a child bearing a novel deleterious splicing variant in PIGT

    Medicine . 98(8): . Number of citations: 5

    [doi:10.1097/MD.0000000000014524]

  • Roca N, Ng PY, Garcia-Giralt N, Falcó-Mascaró M, Cozar M, Abril JF, Quesada Gómez JM, Prieto-Alhambra D, Nogués X, Dunford JE, Russell RG, Baron R, Grinberg-Vaisman DR, Balcells S and Díez-Pérez A.

    Functional Characterization of a GGPPS Variant Identified in Atypical Femoral Fracture Patients and Delineation of the Role of GGPPS in Bone-Relevant Cell Types.

    JOURNAL OF BONE AND MINERAL RESEARCH . 33(12): 2091-2098. Number of citations: 21

    [doi:10.1002/jbmr.3580]