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Susana Balcells Comas

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Publications

  • 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: 7

    [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: 23

    [doi:10.1002/jbmr.3580]

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

    Pro-osteoporotic miR-320a impairs osteoblast function and induces oxidative stress.

    PLoS One . 13(11): . Number of citations: 23

    [doi:10.1371/journal.pone.0208131]

  • Trajanoska K, Morris JA, Oei L, Zheng HF, Evans DM, Kiel DP, Ohlsson C, Richards JB, Rivadeneira F and GEFOS/GENOMOS consortium and the 23andMe research team.

    Assessment of the genetic and clinical determinants of fracture risk: genome wide association and mendelian randomisation study.

    BMJ (Clinical research ed.) . 362: . Number of citations: 186

    [doi:10.1136/bmj.k3225]

  • Urreizti R, Gürsoy S, Castilla-Vallmanya L, Cunill G, Rabionet-Janssen R, Erçal D, Grinberg-Vaisman DR and Balcells S.

    The ASXL1 mutation p.Gly646Trpfs*12 found in a Turkish boy with Bohring-Opitz Syndrome.

    clinical case reports . 6(8): 1452-1456. Number of citations: 4

    [doi:10.1002/ccr3.1603]

  • Martinez-Gil N, Roca N, Monistrol-Mula A, García-Giralt N, Díez-Pérez A, Nogués X, Mellibovsky L, Grinberg-Vaisman DR and Balcells S.

    Common and rare variants of WNT16, DKK1 and SOST and their relationship with bone mineral density.

    SCIENTIFIC REPORTS . 8(1): 10951-10951. Number of citations: 15

    [doi:10.1038/s41598-018-29242-8]

  • Cammarata-Scalisi F, Stock F, Avendaño A, Cozar M, Balcells S and Grinberg-Vaisman DR.

    Estudio clínico y molecular en una familia con osteocondromatosis mltiple.

    Acta ortopédica mexicana . 32(2): 108-111.

  • Urreizti R, Damanti S, Esteve-Matanza C, Franco-Valls H, Castilla-Vallmanya L, Tonda R, Cormand B, Vilageliu L, Opitz JM, Neri G, Grinberg-Vaisman DR and Balcells S.

    A De Novo FOXP1 Truncating Mutation in a Patient Originally Diagnosed as C Syndrome

    SCIENTIFIC REPORTS . 8: 694-694. Number of citations: 11

    [doi:10.1038/s41598-017-19109-9]

  • De-Ugarte L, Serra-Vinardell J, Nonell L, Balcells S, Arnal M, Nogues X, Mellibovsky L, Grinberg-Vaisman DR, Diez-Perez A and Garcia-Giralt N.

    Expression profiling of microRNAs in human bone tissue from postmenopausal women.

    Human Cell . 31(1): 33-41. Number of citations: 12

    [doi:10.1007/s13577-017-0181-y]

  • Herrera S, Soriano R, Nogués X, Güerri-Fernandez R, Grinberg-Vaisman DR, García-Giralt N, Martinez-Gil N, Castejón S, González-Lizarán A, Balcells S and Diez-Perez A.

    Discrepancy between bone density and bone material strength index in three siblings with Camurati-Engelmann disease.

    OSTEOPOROSIS INTERNATIONAL . 28(12): 3489-3493. Number of citations: 5

    [doi:10.1007/s00198-017-4198-6]