People / Staff

Susana Balcells Comas

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Publications

  • 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-BRITISH MEDICAL JOURNAL . 362: . Number of citations: 158

    [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: 14

    [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(1): 694-694. Number of citations: 9

    [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: 11

    [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]

  • De-Ugarte L, Yoskovitz G, Balcells S, Güerri-Fernández R, Martinez-Diaz S, Mellibovsky L, Urreizti R, Nogués X, Grinberg-Vaisman DR, García-Giralt N and Díez-Pérez A.

    Erratum to: MiRNA profiling of whole trabecular bone: identification of osteoporosis-related changes in MiRNAs in human hip bones.

    BMC MEDICAL GENOMICS . 10(1): 36-36.

    [doi:10.1186/s12920-017-0272-3]

  • Urreizti R, Cueto-Gonzalez, Ana Maria, Franco-Valls, Héctor, Mort-Farre, Silvia, Roca N, Ponomarenko, Julia, Cozzuto, Luca, Company, Carlos, Bosio M, Ossowski, Stephan, Montfort, Magda, Hecht, Jochen, Tizzano, Eduardo, Cormand B, Vilageliu L, Opitz, John, Neri, Giovanni, Grinberg-Vaisman DR and Balcells S.

    A De Novo Nonsense Mutation in MAGEL2 in a Patient Initially Diagnosed as Opitz-C: Similarities Between Schaaf-Yang and Opitz-C Syndromes.

    SCIENTIFIC REPORTS . 7: 44138-44138. Number of citations: 27

    [doi:10.1038/srep44138]

  • Urreizti R, Roca N, Trepat J, Garcia-Garcia F, Aleman A, Orteschi D, Marangi G, Neri G, Opitz JM, Dopazo J, Cormand B, Vilageliu L, Balcells S and Grinberg-Vaisman DR.

    Screening of CD96 and ASXL1 in 11 patients with Opitz C or Bohring-Opitz syndromes.

    AMERICAN JOURNAL OF MEDICAL GENETICS PART A . 170A(1): 24-31. Number of citations: 11

    [doi:10.1002/ajmg.a.37418]