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Publications

  • Formosa MM, Bergen DJM, Gregson CL, Maurizi A, Kämpe A, Garcia-Giralt N, Zhou W, Grinberg-Vaisman DR, Ovejero Crespo D, Zillikens MC, Williams GR, Bassett JHD, Brandi ML, Sangiorgi L, Balcells S, Högler W, Van Hul W and Mäkitie O.

    A Roadmap to Gene Discoveries and Novel Therapies in Monogenic Low and High Bone Mass Disorders.

    Frontiers in Endocrinology . 12: 709711-709711.

    [doi:10.3389/fendo.2021.709711]

  • Ugartondo N, Martinez N, Esteve M, Garcia-Giralt N, Roca N, Ovejero D, Nogués X, Díez-Pérez A, Raquel Rabionet Janssen, Grinberg-Vaisman DR and Balcells S.

    Functional Analyses of Four CYP1A1 Missense Mutations Present in Patients with Atypical Femoral Fractures.

    INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES . 22(14): .

    [doi:10.3390/ijms22147395]

  • Martinez N, Roca N, Cozar M, Garcia-Giralt N, Ovejero D, Nogués X, Grinberg-Vaisman DR and Balcells S.

    Genetics and Genomics of SOST: Functional Analysis of Variants and Genomic Regulation in Osteoblasts.

    INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES . 22(2): .

    [doi:10.3390/ijms22020489]

  • Martinez N, Grinberg-Vaisman DR and Balcells S.

    Search for variants of the LRP4 gene in women with high bone mass and in patients with Chiari type I malformation

    Revista de Osteoporosis y Metabolismo Mineral . 13(1): 17-20.

    [doi:10.4321/S1889-836X2021000100004]

  • Martinez N, Roca N, Atalay N, Pineda-Moncusí M, Garcia-Giralt N, Van Hul W, Boudin E, Ovejero D, Mellibovsky L, Nogués X, Díez-Pérez A, Grinberg-Vaisman DR and Balcells S.

    Functional Assessment of Coding and Regulatory Variants From the DKK1 Locus.

    jbmr plus . 4(12): e10423.

    [doi:10.1002/jbm4.10423]

  • 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. Number of citations: 6

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

  • 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. Number of citations: 4

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

  • 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: 2

    [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.

    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: 4

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

  • 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: 5

    [doi:10.1002/jimd.12097]