Research

Human Molecular Genetics I

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Publications

  • Larsson SC, Traylor M, Burgess S, Boncoraglio GB, Jern C, Michaëlsson K, Markus HS and MEGASTROKE project of the International Stroke Genetics Consortium.

    Serum magnesium and calcium levels in relation to ischemic stroke: Mendelian randomization study.

    Neurology . 92(9): 944-950. Number of citations: 44

    [doi:10.1212/WNL.0000000000007001]

  • Alemany-Navarro M, Costas J, Real E, Segalàs C, Bertolín S, Domènech L, Rabionet-Janssen R, Carracedo Á, Menchón JM and Alonso P.

    Do polygenic risk and stressful life events predict pharmacological treatment response in obsessive compulsive disorder? A gene-environment interaction approach.

    TRANSLATIONAL PSYCHIATRY . 9(1): 70-70. Number of citations: 17

    [doi:10.1038/s41398-019-0410-0]

  • Mason S, Castilla-Vallmanya L, James C, Andrews PI, Balcells S, Grinberg-Vaisman DR, Kirk EP and Urreizti R.

    Case report of a child bearing a novel deleterious splicing variant in PIGT

    Medicine . 98(8): . Number of citations: 7

    [doi:10.1097/MD.0000000000014524]

  • Arcos-Burgos M, Vélez JI, Martinez AF, Ribasés M, Ramos-Quiroga JA, Sánchez-Mora C, Richarte V, Roncero C, Cormand B, Fernandez-Castillo N, Casas M, Lopera F, Pineda DA, Palacio JD, Acosta-López JE, Cervantes-Henriquez ML, Sánchez-Rojas MG, Puentes-Rozo PJ, Molina BSG, MTA Cooperative Group, Boden MT, Wallis D, Lidbury B, Newman S, Easteal S, Swanson J, Patel H, Volkow N, Acosta MT, Castellanos FX, de Leon J, Mastronardi CA and Muenke M.

    ADGRL3 (LPHN3) variants predict substance use disorder

    TRANSLATIONAL PSYCHIATRY . 9(1): 42-42. Number of citations: 27

    [doi:10.1038/s41398-019-0396-7]

  • Mola-Caminal M, Carrera C, Soriano-Tárraga C, Giralt-Steinhauer E, Díaz-Navarro RM, Tur S, Jiménez C, Medina-Dols A, Cullell N, Torres-Aguila NP, Muiño E, Rodríguez-Campello A, Ois A, Cuadrado-Godia E, Vivanco-Hidalgo RM, Hernandez-Guillamon M, Solé M, Delgado P, Bustamante A, García-Berrocoso T, Mendióroz M, Castellanos M, Serena J, Martí-Fàbregas J, Segura T, Serrano-Heras G, Obach V, Ribó M, Molina CA, Alvarez-Sabín J, Palomeras E, Freijo M, Font MA, Rosand J, Rost NS, Gallego-Fabrega C, Lee JM, Heitsch L, Ibanez L, Cruchaga C, Phuah CL, Lemmens R, Thijs V, Lindgren A, Maguire J, Rannikmae K, Sudlow CL, Jern C, Stanne TM, Lorentzen E, Muñoz-Narbona L, Dávalos A, López-Cancio E, Worrall BB, Woo D, Kittner SJ, Mitchell BD, Montaner J, Roquer J, Krupinski J, Estivill X, Rabionet-Janssen R, Vives-Bauzá C, Fernández-Cadenas I and Jiménez-Conde J.

    PATJ Low Frequency Variants Are Associated With Worse Ischemic Stroke Functional Outcome A Genome-Wide Meta-Analysis

    CIRCULATION RESEARCH . 124(1): 114-120. Number of citations: 43

    [doi:10.1161/CIRCRESAHA.118.313533]

  • Muyas F, Bosio M, Puig A, Susak H, Domènech L, Escaramis G, Zapata L, Demidov G, Estivill X, Rabionet-Janssen R and Ossowski S.

    Allele balance bias identifies systematic genotyping errors and false disease associations.

    HUMAN MUTATION . 40(1): 115-126. Number of citations: 18

    [doi:10.1002/humu.23674]

  • Demontis D, Walters RK, Martin J, Mattheisen M, Als TD, Agerbo E, Baldursson G, Belliveau R, Bybjerg-Grauholm J, Bækvad-Hansen M, Cerrato F, Chambert K, Churchhouse C, Dumont A, Eriksson N, Gandal M, Goldstein JI, Grasby KL, Grove J, Gudmundsson OO, Hansen CS, Hauberg ME, Hollegaard MV, Howrigan DP, Huang H, Maller JB, Martin AR, Martin NG, Moran J, Pallesen J, Palmer DS, Pedersen CB, Pedersen MG, Poterba T, Poulsen JB, Ripke S, Robinson EB, Satterstrom FK, Stefansson H, Stevens C, Turley P, Walters GB, Won H, Wright MJ, ADHD Working Group of the Psychiatric Genomics Consortium (PGC), Early Lifecourse Genetic Epidemiology (EAGLE) Consortium, 23andMe Research Team, Andreassen OA, Asherson P, Burton CL, Boomsma DI, Cormand B, Dalsgaard S, Franke B, Gelernter J, Geschwind D, Hakonarson H, Haavik J, Kranzler HR, Kuntsi J, Langley K, Lesch KP, Middeldorp C, Reif A, Rohde LA, Roussos P, Schachar R, Sklar P, Sonuga-Barke EJS, Sullivan PF, Thapar A, Tung JY, Waldman ID, Medland SE, Stefansson K, Nordentoft M, Hougaard DM, Werge T, Mors O, Mortensen PB, Daly MJ, Faraone SV, Børglum AD and Neale BM.

    Discovery of the first genome-wide significant risk loci for attention deficit/hyperactivity disorder.

    NATURE GENETICS . 51(1): 63-75. Number of citations: 1241

    [doi:10.1038/s41588-018-0269-7]

  • Roca N, Ng PY, Garcia-Giralt N, Falcó-Mascaró M, Cozar M, Abril JF, Quesada Gómez JM, Prieto-Alhambra D, Nogués X, Dunford JE, Russell RG, Baron R, Grinberg-Vaisman DR, Balcells S and Díez-Pérez A.

    Functional Characterization of a GGPPS Variant Identified in Atypical Femoral Fracture Patients and Delineation of the Role of GGPPS in Bone-Relevant Cell Types.

    JOURNAL OF BONE AND MINERAL RESEARCH . 33(12): 2091-2098. Number of citations: 23

    [doi:10.1002/jbmr.3580]

  • De-Ugarte L, Balcells S, Nogues X, Grinberg-Vaisman DR, Diez-Perez A and Garcia-Giralt N.

    Pro-osteoporotic miR-320a impairs osteoblast function and induces oxidative stress.

    PLoS One . 13(11): . Number of citations: 23

    [doi:10.1371/journal.pone.0208131]

  • Franke B, Michelini G, Asherson P, Banaschewski T, Bilbow A, Buitelaar JK, Cormand B, Faraone SV, Ginsberg Y, Haavik J, Kuntsi J, Larsson H, Lesch KP, Ramos-Quiroga JA, Réthelyi JM, Ribases M and Reif A.

    Live fast, die young? A review on the developmental trajectories of ADHD across the lifespan.

    EUROPEAN NEUROPSYCHOPHARMACOLOGY . 28(10): 1059-1088. Number of citations: 355

    [doi:10.1016/j.euroneuro.2018.08.001]