Investigación

Genética Molecular Humana I

Buscador de publicaciones

Publicaciones

  • Strom NI, Gerring ZF, Galimberti M, Yu D, Halvorsen MW, Abdellaoui A, Rodriguez-Fontenla C, Sealock JM, Bigdeli T, Coleman JR, Mahjani B, Thorp JG, Bey K, Burton CL, Luykx JJ, Zai G, Alemany S, Andre C, Askland KD, Bäckman J, Banaj N, Barlassina C, Nissen JB, Bienvenu OJ, Black D, Bloch MH, Børte S, Rosa Bosch Munsó, Breen M, Brennan BP, Brentani H, Buxbaum JD, Bybjerg-Grauholm J, Byrne EM, Cabana-Domínguez J, Camarena B, Camarena A, Cappi C, Carracedo A, Miguel Casas Brugué, Cavallini MC, Ciullo V, Cook EH, Crosby J, Cullen BA, De Schipper EJ, Delorme R, Djurovic S, Elias JA, Estivill X, Falkenstein MJ, Fundin BT, Garner L, Gironda C, Goes FS, Grados MA, Grove J, Guo W, Haavik J, Hagen K, Harrington K, Havdahl A, Höffler KD, Hounie AG, Hucks D, Hultman C, Janecka M, Jenike E, Karlsson EK, Kelley K, Klawohn J, Krasnow JE, Krebs K, Lange C, Lanzagorta N, Levey D, Lindblad-Toh K, Macciardi F, Maher B, Mathes B, McArthur E, McGregor N, McLaughlin NC, Meier S, Miguel EC, Mulhern M, Nestadt PS, Nurmi EL, O'Connell KS, Osiecki L, Ousdal OT, Palviainen T, Pedersen NL, Piras F, Piras F, Potluri S, Rabionet-Janssen R, Ramirez A, Rauch S, Reichenberg A, Riddle MA, Ripke S, Rosário MC, Sampaio AS, Schiele MA, Skogholt AH, Sloofman LG, Smit J, Artigas MS, Thomas LF, Tifft E, Vallada H, van Kirk N, Veenstra-VanderWeele J, Vulink NN, Walker CP, Wang Y, Wendland JR, Winsvold BS, Yao Y, Zhou H, Agrawal A, Alonso P, Berberich G, Bucholz KK, Bulik CM, Cath D, Denys D, Eapen V, Edenberg H, Falkai P, Fernandez TV, Fyer AJ, Gaziano JM, Geller DA, Grabe HJ, Greenberg BD, Hanna GL, Hickie IB, Hougaard DM, Kathmann N, Kennedy J, Lai D, Landén M, Hellard SL, Leboyer M, Lochner C, McCracken JT, Medland SE, Mortensen PB, Neale BM, Nicolini H, Nordentoft M, Pato M, Pato C, Pauls DL, Piacentini J, Pittenger C, Posthuma D, Ramos-Quiroga JA, Rasmussen SA, Richter MA, Rosenberg DR, Ruhrmann S, Samuels JF, Sandin S, Sandor P, Spalletta G, Stein DJ, Stewart SE, Storch EA, Stranger BE, Turiel M, Werge T, Andreassen OA, Børglum AD, Walitza S, Hveem K, Hansen BK, Rück C, Martin NG, Milani L, Mors O, Reichborn-Kjennerud T, Ribasés M, Kvale G, Mataix-Cols D, Domschke K, Grünblatt E, Wagner M, Zwart JA, Breen G, Nestadt G, Kaprio J, Arnold PD, Grice DE, Knowles JA, Ask H, Verweij KJ, Davis LK, Smit DJ, Crowley JJ, Scharf JM, Stein MB, Gelernter J, Mathews CA, Derks EM and Mattheisen M.

    Genome-wide analyses identify 30 loci associated with obsessive-compulsive disorder.

    NATURE GENETICS . 57(6): .

    [doi:10.1038/s41588-025-02189-z]

  • Urreizti R, Vissicchio J, Idries M, Cozar M, Rabionet-Janssen R, Donald T, Bhoj EJ, Nomakuchi TT, Shipley SC, Timms AE, Mirzaa GM, Serrano M and Sobering AK.

    Two New Cases Expand the Phenotypic Spectrum of TUBG1 Missense Variants

    AMERICAN JOURNAL OF MEDICAL GENETICS PART A . : .

    [doi:10.1002/ajmg.a.64095]

  • Martinez-Gil N, Herrera-Ubeda C, Gritti N, Roca N, Ugartondo N, Garcia-Giralt N, Ovejero D, Nogués X, Garcia-Fernàndez J, Grinberg-Vaisman DR and Balcells S.

    Regulation of WNT16 in bone may involve upstream enhancers within CPED1

    SCIENTIFIC REPORTS . 15(1): 9607-9607.

    [doi:10.1038/s41598-025-93259-z]

  • Patiño-Salazar JD, Ovejero D, Gabernet M, Martinez-Gil N, Alcaide E, Mellibovsky L, Nogués X, Grinberg-Vaisman DR, Balcells S, Rabionet-Janssen R and Garcia-Giralt N.

    Identifying rare variants in genes related to bone phenotypes in a cohort of postmenopausal women

    OSTEOPOROSIS INTERNATIONAL . 36(4): 637-644.

    [doi:10.1007/s00198-025-07413-4]

  • Ovejero D, Garcia-Giralt N, Patiño-Salazar JD, Rabionet-Janssen R and Nogués X.

    Focal dermal hypoplasia: a probable underrecognized low bone mass disorder secondary to aberrant Wnt signaling

    OSTEOPOROSIS INTERNATIONAL . : 555-559.

    [doi:10.1007/s00198-024-07382-0]

  • Samulenaite S, García-Blanco A, Mayneris-Perxachs J, Domingo-Rodríguez L, Cabana-Domínguez J, Fernandez-Castillo N, Gago-García E, Pineda L, Burokas A, Espinosa-Carrasco J, Arboleya S, Latorre J, Stanton C, Hosomi K, Kunisawa J, Cormand B, Fernández-Real JM, Maldonado R and Martín-García E.

    Gut microbiota signatures of vulnerability to food addiction in mice and humans

    Gut . 73(11): 1799-1815. Nº de citas: 12

    [doi:10.1136/gutjnl-2023-331445]

  • Leggieri A, García-González J, Hosseinian S, Ashdown P, Anagianni S, Wang X, Havelange W, Fernandez-Castillo N, Cormand B and Brennan CH.

    rbfox1 loss of function in zebrafish leads to dysregulation in bdnf/trkb2 and pac1a expression resulting in HPI axis hyperactivation, altered stress response and allostatic overload.

    Biorxiv . : .

    [doi:10.1101/2024.10.09.616976]

  • Zillich E, Belschner H, Avetyan D, Andrade-Brito D, Martínez-Magaña JJ, Frank J, Mechawar N, Turecki G, Cabana-Domínguez J, Fernandez-Castillo N, Cormand B, Montalvo-Ortiz JL, Nöthen MM, Hansson AC, Rietschel M, Spanagel R, Witt SH and Zillich L.

    Multi-omics profiling of DNA methylation and gene expression alterations in human cocaine use disorder

    TRANSLATIONAL PSYCHIATRY . 14(1): 428-428. Nº de citas: 1

    [doi:10.1038/s41398-024-03139-9]

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

    Assessing the contribution of genes involved in monogenic bone disorders to the etiology of atypical femoral fractures

    HUMAN GENOMICS . 18(1): 87-87.

    [doi:10.1186/s40246-024-00652-2]

  • Centeno-Pla M, Alcaide-Consuegra E, Gibson S, Prat-Planas A, Gutiérrez-Ávila JD, Grinberg-Vaisman DR, Urreizti R, Rabionet-Janssen R and Balcells S.

    Subcellular localisation of truncated MAGEL2 proteins: insight into the molecular pathology of Schaaf-Yang syndrome

    JOURNAL OF MEDICAL GENETICS . 61(8): 780-782. Nº de citas: 3

    [doi:10.1136/jmg-2024-109898]