Research

Human Molecular Genetics I

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Publications

  • Vainieri I, Martin J, Rommel AS, Asherson P, Banaschewski T, Buitelaar J, Cormand B, Crosbie J, Faraone SV, Franke B, Loo SK, Miranda A, Manor I, Oades RD, Purves KL, Ramos-Quiroga JA, Ribasés M, Roeyers H, Rothenberger A, Schachar R, Sergeant J, Steinhausen HC, Vuijk PJ, Doyle AE and Kuntsi J.

    Polygenic association between attention-deficit/hyperactivity disorder liability and cognitive impairments.

    PSYCHOLOGICAL MEDICINE . 52(14): 3150-3158. Number of citations: 7

    [doi:10.1017/S0033291720005218]

  • Mitchell BL, Diaz-Torres S, Bivol S, Cuellar-Partida G, Gerring ZF, Martin NG, Medland SE, Grasby KL, Nyholt DR and Rentería ME.

    Elucidating the relationship between migraine risk and brain structure using genetic data.

    BRAIN . 145(9): 3214-3224. Number of citations: 16

    [doi:10.1093/brain/awac105]

  • Antón-Galindo E, Dalla Vecchia E, Orlandi JG, Castro G, Gualda EJ, Young AMJ, Guasch-Piqueras M, Arenas C, Herrera-Úbeda C, Garcia-Fernàndez J, Aguado F, Loza-Alvarez P, Cormand B, Norton WHJ and Fernandez-Castillo N.

    Deficiency of the ywhaz gene, involved in neurodevelopmental disorders, alters brain activity and behaviour in zebrafish.

    MOLECULAR PSYCHIATRY . 27(9): 3739-3748. Number of citations: 8

    [doi:10.1038/s41380-022-01577-9]

  • Domingo-Rodriguez, L, Cabana-Domínguez J, Fernandez-Castillo N, Cormand B, Martin-Garcia, E and Maldonado, R.

    Differential expression of miR-1249-3p and miR-34b-5p between vulnerable and resilient phenotypes of cocaine addiction

    ADDICTION BIOLOGY . 27(5): . Number of citations: 8

    [doi:10.1111/adb.13201]

  • Ovejero D, Garcia-Giralt N, Martinez-Gil N, Rabionet-Janssen R, Balcells S, Grinberg-Vaisman DR, Pérez-Jurado L, Nogués X and Foronda IE.

    Clinical description and genetic analysis of a novel familial skeletal dysplasia characterized by high bone mass and lucent bone lesions.

    Bone . 161: 116450-116450. Number of citations: 2

    [doi:10.1016/j.bone.2022.116450]

  • Martinez-Gil N, Mellibovsky L, Manzano-López González D, Patiño JD, Cozar M, Rabionet-Janssen R, Grinberg-Vaisman DR and Balcells S.

    On the association between Chiari malformation type 1, bone mineral density and bone related genes.

    Bone Reports . 16: 101181-101181. Number of citations: 4

    [doi:10.1016/j.bonr.2022.101181]

  • Garcia-Blanco, A, Domingo-Rodriguez, L, Cabana-Domínguez J, Fernandez-Castillo N, Pineda L, Mayneris-Perxachs, J, Burokas, A, Espinosa-Carrasco, J, Arboleya, S, Latorre, J, Stanton, C, Cormand B, Fernandez-Real, JM, Martin-Garcia, E and Maldonado, R.

    miRNA signatures associated with vulnerability to food addiction in mice and humans

    JOURNAL OF CLINICAL INVESTIGATION . 132(10): . Number of citations: 10

    [doi:10.1172/JCI156281]

  • 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. Number of citations: 6

    [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. Number of citations: 8

    [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. Number of citations: 9

    [doi:10.3390/ijms23084410]