Research

Human Molecular Genetics I

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Publications

  • 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. Number of citations: 11

    [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): . Number of citations: 1

    [doi:10.1002/jbm4.10602]

  • Pineda L, Cabana-Domínguez J, Lee, PH, Fernandez-Castillo N and Cormand B.

    Identification of genetic variants influencing methylation in brain with pleiotropic effects on psychiatric disorders

    PROGRESS IN NEURO-PSYCHOPHARMACOLOGY & BIOLOGICAL PSYCHIATRY . 113: 110454-110454. Number of citations: 10

    [doi:10.1016/j.pnpbp.2021.110454]

  • 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. Number of citations: 19

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

  • Andrade I, Ribeiro R, Carneiro ZA, Giugliani R, Pereira C, Cozma C, Grinberg-Vaisman DR, Vilageliu L and Lourenco CM.

    Fifteen years of enzyme replacement therapy for mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome): a case report.

    Journal Of Medical Case Reports . 16(1): 46-46. Number of citations: 2

    [doi:10.1186/s13256-021-03240-3]

  • 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): . Number of citations: 7

    [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): . Number of citations: 25

    [doi:10.3390/genes13010138]

  • Cabana-Domínguez J, Torrico B, Reif, A, Fernandez-Castillo N and Cormand B.

    Comprehensive exploration of the genetic contribution of the dopaminergic and serotonergic pathways to psychiatric disorders

    TRANSLATIONAL PSYCHIATRY . 12(1): 11-11. Number of citations: 26

    [doi:10.1038/s41398-021-01771-3]

  • Fernandez-Castillo N, Cabana-Domínguez J, Kappel, DB, Torrico B, Weber, H, Lesch, KP, Lao, OS, Reif, A and Cormand B.

    Exploring the Contribution to ADHD of Genes Involved in Mendelian Disorders Presenting with Hyperactivity and/or Inattention

    GENES . 13(1): 93. Number of citations: 5

    [doi:10.3390/genes13010093]

  • Fernandez-Castillo N, Cabana-Domínguez J, Corominas-Francés L and Cormand B.

    Molecular genetics of cocaine use disorders in humans

    MOLECULAR PSYCHIATRY . 27(1): 624-639. Number of citations: 30

    [doi:10.1038/s41380-021-01256-1]