Investigación

Genética Molecular Humana I

Buscador de publicaciones

Publicaciones

  • Weiner DJ, Ling E, Erdin S, Tai DJC, Yadav R, Grove J, Fu JM, Nadig A, Carey CE, Baya N, Bybjerg-Grauholm J, Berretta S, Macosko EZ, Sebat J, O'Connor LJ, Hougaard DM, Børglum AD, Talkowski ME, McCarroll SA and Robinson EB.

    Statistical and functional convergence of common and rare genetic influences on autism at chromosome 16p.

    NATURE GENETICS . 54(11): 1630-1639. Nº de citas: 19

    [doi:10.1038/s41588-022-01203-y]

  • O'Leary, A, Fernandez-Castillo N, Gan, G, Yang, YB, Yotova, AY, Kranz, TM, Grunewald, L, Freudenberg, F, Anton-Galindo, E, Cabana-Domínguez J, Harneit, A, Schweiger, JI, Schwarz, K, Ma, R, Chen, JF, Schwarz, E, Rietschel, M, Tost, H, Meyer-Lindenberg, A, Pane-Farre, CA, Kircher, T, Hamm, AO, Burguera, D, Mota, NR, Franke, B, Schweiger, S, Winter, J, Heinz, A, Erk, S, Romanczuk-Seiferth, N, Walter, H, Ströhle A, Fehm, L, Fydrich, T, Lueken, U, Weber, H, Lang, T, Gerlach, AL, Nöthen MM, Alpers, GW, Arolt, V, Witt, S, Richter, J, Straube, B, Cormand B, Slattery, DA and Reif, A.

    Behavioural and functional evidence revealing the role of RBFOX1 variation in multiple psychiatric disorders and traits

    MOLECULAR PSYCHIATRY . 27(11): 4464-4473. Nº de citas: 25

    [doi:10.1038/s41380-022-01722-4]

  • Jaworek, T, Xu, HC, Gaynor, BJ, Cole, JW, Rannikmae, K, Stanne, TM, Tomppo, L, Abedi, V, Amouyel, P, Armstrong, ND, Attia, J, Bell, S, Benavente, OR, Boncoraglio, GB, Butterworth, A, Carcel-Marquez, J, Chen, ZM, Chong, M, Cruchaga, C, Cushman, M, Danesh, J, Debette, S, Duggan, DJ, Durda, JP, Engstrom, G, Enzinger, C, Faul, JD, Fecteau, NS, Fernandez-Cadenas, I, Gieger, C, Giese, AK, Grewal, RP, Grittner, U, Havulinna, AS, Heitsch, L, Hochberg, MC, Holliday, E, Hu, J, Ilinca, A, Irvin, MR, Jackson, RD, Jacob, MA, Rabionet-Janssen R, Jimenez-Conde, J, Johnson, JA, Kamatani, Y, Kardia, SLR, Koido, M, Kubo, M, Lange, L, Lee, JM, Lemmens, R, Levi, CR, Li, J, Li, LM, Lin, K, Lopez, H, Luke, S, Maguire, J, McArdle, PF, McDonough, CW, Meschia, JF, Metso, T, Muller-Nurasyid, M, O'Connor, TD, O'Donnell, M, Peddareddygari, LR, Pera, J, Perry, JA, Peters, A, Putaala, J, Ray, D, Rexrode, K, Ribases, M, Rosand, J, Rothwell, PM, Rundek, T, Ryan, KA, Sacco, RL, Salomaa, V, Sanchez-Mora, C, Schmidt, R, Sharma, P, Slowik, A, Smith, JA, Smith, NL, Wassertheil-Smoller, S, Soderholm, M, Stine, OC, Strbian, D, Sudlow, CLM, Tatlisumak, T, Terao, C, Thijs, V, Torres-Aguila, NP, Tregouet, DA, Tuladhar, AM, Veldink, JH, Walters, RG, Weir, DR, Woo, D, Worrall, BB, Hong, CC, Ross, OA, Zand, R, de Leeuw, FE, Lindgren, AG, Pare, G, Anderson, CD, Markus, HS, Jern, C, Malik, R, Dichgans, M, Mitchell, BD and Kittner, SJ.

    Contribution of Common Genetic Variants to Risk of Early-Onset Ischemic Stroke

    Neurology . 99(16): 1738-1754. Nº de citas: 16

    [doi:10.1212/WNL.0000000000201006]

  • Mattheisen, M, Grove, J, Als, TD, Martin, J, Voloudakis, G, Meier, S, Demontis, D, Bendl, J, Walters, R, Carey, CE, Rosengren, A, Strom, NI, Hauberg, ME, Zeng, B, Hoffman, G, Zhang, W, Bybjerg-Grauholm, J, Bækvad-Hansen M, Agerbo, E, Cormand B, Nordentoft, M, Werge, T, Mors, O, Hougaard, DM, Buxbaum, JD, Faraone, SV, Franke, B, Dalsgaard, S, Mortensen, PB, Robinson, EB, Roussos, P, Neale, BM, Daly, MJ and Børglum AD.

    Identification of shared and differentiating genetic architecture for autism spectrum disorder, attention-deficit hyperactivity disorder and case subgroups

    NATURE GENETICS . 54(10): 1470-1478. Nº de citas: 38

    [doi:10.1038/s41588-022-01171-3]

  • 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. Nº de citas: 8

    [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. Nº de citas: 20

    [doi:10.1093/brain/awac105]

  • 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): . Nº de citas: 8

    [doi:10.1111/adb.13201]

  • 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. Nº de citas: 11

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

  • 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. Nº de citas: 3

    [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. Nº de citas: 5

    [doi:10.1016/j.bonr.2022.101181]