Persones / Equip Humà

Susana Balcells Comas

Buscador de publicacions

Publicacions

  • López-Marquez A, Morín M, Fernández-Peñalver S, Badosa-Gallego MC, Hernández-Delgado A, Natera-de Benito D, Ortez-Gonzalez CI, Nascimento-Osorio A, Grinberg-Vaisman DR, Balcells S, Roldan-Molina M, Moreno-Pelayo MÁ and Jimenez-Mallebrera C.

    CRISPR/Cas9-Mediated Allele-Specific Disruption of a Dominant COL6A1 Pathogenic Variant Improves Collagen VI Network in Patient Fibroblasts

    INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES . 23(8): 4410. Nº de cites: 10

    [doi:10.3390/ijms23084410]

  • Martinez-Gil N, Ovejero, D, Garcia-Giralt, N, Bruque, CD, Mellibovsky, L, Nogues, X, Rabionet, R, Grinberg-Vaisman DR and Balcells S.

    Genetic Analysis in a Familial Case With High Bone Mineral Density Suggests Additive Effects at Two Loci.

    jbmr plus . 6(4): . Nº de cites: 1

    [doi:10.1002/jbm4.10602]

  • Domènech L, Willis J, Alemany-Navarro M, Morell M, Real E, Escaramís G, Bertolín S, Sánchez Chinchilla D, Balcells S, Segalàs C, Estivill X, Menchón JM, Gabaldón T, Alonso P and Rabionet-Janssen R.

    Changes in the stool and oropharyngeal microbiome in obsessive-compulsive disorder

    SCIENTIFIC REPORTS . 12(1): 1448-1448. Nº de cites: 18

    [doi:10.1038/s41598-022-05480-9]

  • Garcia-Giralt N, Roca N, Abril JF, Martinez-Gil N, Ovejero D, Castañeda S, Nogues X, Grinberg-Vaisman DR, Balcells S and Rabionet-Janssen R.

    Gene Network of Susceptibility to Atypical Femoral Fractures Related to Bisphosphonate Treatment.

    GENES . 13(1): . Nº de cites: 6

    [doi:10.3390/genes13010146]

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

    Wnt Pathway Extracellular Components and Their Essential Roles in Bone Homeostasis.

    GENES . 13(1): . Nº de cites: 21

    [doi:10.3390/genes13010138]

  • Rauner M, Foessl I, Formosa MM, Kague E, Prijatelj V, Lopez NA, Banerjee B, Bergen D, Busse B, Calado Â, Douni E, Gabet Y, Giralt NG, Grinberg-Vaisman DR, Lovsin NM, Solan XN, Ostanek B, Pavlos NJ, Rivadeneira F, Soldatovic I, van de Peppel J, van der Eerden B, van Hul W, Balcells S, Marc J, Reppe S, Søe K and Karasik D.

    Perspective of the GEMSTONE Consortium on Current and Future Approaches to Functional Validation for Skeletal Genetic Disease Using Cellular, Molecular and Animal-Modeling Techniques.

    Frontiers in Endocrinology . 12: 731217-731217. Nº de cites: 15

    [doi:10.3389/fendo.2021.731217]

  • Martinez-Gil N, Patino, J, Ugartondo, N, Grinberg-Vaisman DR and Balcells S.

    WNT16 rs2908004 missense variant acts as eQTL of FAM3C in human primary osteoblasts

    Revista de Osteoporosis y Metabolismo Mineral . 13(4): 117-121. Nº de cites: 1

    [doi:10.4321/S1889-836X2021000300003]

  • Cornet-Bartolomé D, Barragán M, Zambelli F, Ferrer-Vaquer A, Tiscornia G, Balcells S, Rodriguez A, Grinberg-Vaisman DR and Vassena R.

    Human oocyte meiotic maturation is associated with a specific profile of alternatively spliced transcript isoforms.

    MOLECULAR REPRODUCTION AND DEVELOPMENT . 88(9): 605-617. Nº de cites: 6

    [doi:10.1002/mrd.23526]

  • 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. Nº de cites: 9

    [doi:10.3389/fendo.2021.709711]

  • Ugartondo N, Martinez-Gil N, Esteve M, Garcia-Giralt N, Roca N, Ovejero D, Nogués X, Díez-Pérez A, Rabionet-Janssen R, 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): 7395. Nº de cites: 9

    [doi:10.3390/ijms22147395]