Investigación

Genética Molecular Humana I

Buscador de publicaciones

Publicaciones

  • Bullich G, Matalonga L, Pujadas M, Papakonstantinou A, Piscia D, Tonda R, Artuch-Iriberri R, Gallano P, Garrabou G, González JR, Grinberg-Vaisman DR, Guitart M, Laurie S, Lázaro C, Luengo C, Martí R, Milà M, Ovelleiro D, Parra G, Pujol A, Tizzano E, Macaya A, Palau F, Ribes A, Pérez-Jurado LA and Beltran S.

    Systematic Collaborative Reanalysis of Genomic Data Improves Diagnostic Yield in Neurologic Rare Diseases.

    JOURNAL OF MOLECULAR DIAGNOSTICS . 24(5): 529-542. Nº de citas: 12

    [doi:10.1016/j.jmoldx.2022.02.003]

  • Luque J, Mendes I, Gómez B, Morte B, de Heredia ML, Herreras E, Corrochano V, Bueren J, Gallano P, Artuch-Iriberri R, Fillat C, Pérez-Jurado LA, Montoliu L, Carracedo Á, Millán JM, Webb SM, Palau F, CIBERER Network and Lapunzina P.

    CIBERER: Spanish national network for research on rare diseases: A highly productive collaborative initiative.

    CLINICAL GENETICS . 101(5-6): 481-493. Nº de citas: 9

    [doi:10.1111/cge.14113]

  • 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 citas: 12

    [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 citas: 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. Nº de citas: 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. Nº de citas: 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. Nº de citas: 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): . Nº de citas: 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): . Nº de citas: 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. Nº de citas: 30

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