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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]

  • Griñán-Ferré C, Companys-Alemany J, Jarné-Ferrer J, Codony S, González-Castillo C, Ortuño-Sahagún D, Vilageliu L, Grinberg-Vaisman DR, Vázquez S and Pallàs M.

    Inhibition of Soluble Epoxide Hydrolase Ameliorates Phenotype and Cognitive Abilities in a Murine Model of Niemann Pick Type C Disease

    INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES . 22(7): 3409.

    [doi:10.3390/ijms22073409]

  • 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]

  • 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): 7819. Number of citations: 4

    [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. Number of citations: 1

    [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. Number of citations: 6

    [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): 644. Number of citations: 5

    [doi:10.3390/jcm9030644]