Research

Human Molecular Genetics I

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Publications

  • 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: 32

    [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: 15

    [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: 1158

    [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: 21

    [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: 17

    [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: 290

    [doi:10.1016/j.euroneuro.2018.08.001]

  • Cabana-Domínguez J, Arenas C, Cormand B and Fernandez-Castillo N.

    MiR-9, miR-153 and miR-124 are down-regulated by acute exposure to cocaine in a dopaminergic cell model and may contribute to cocaine dependence.

    TRANSLATIONAL PSYCHIATRY . 8(1): 173-173. Number of citations: 18

    [doi:10.1038/s41398-018-0224-5]

  • Trajanoska K, Morris JA, Oei L, Zheng HF, Evans DM, Kiel DP, Ohlsson C, Richards JB, Rivadeneira F and GEFOS/GENOMOS consortium and the 23andMe research team.

    Assessment of the genetic and clinical determinants of fracture risk: genome wide association and mendelian randomisation study.

    BMJ (Clinical research ed.) . 362: . Number of citations: 158

    [doi:10.1136/bmj.k3225]

  • Kumar R, Gardner A, Homan CC, Douglas E, Mefford H, Wieczorek D, Lüdecke HJ, Stark Z, Sadedin S, Broad CMG, Nowak CB, Douglas J, Parsons G, Mark P, Loidi L, Herman GE, Mihalic Mosher T, Gillespie MK, Brady L, Tarnopolsky M, Madrigal I, Eiris J, Domènech Salgado L, Rabionet-Janssen R, Strom TM, Ishihara N, Inagaki H, Kurahashi H, Dudding-Byth T, Palmer EE, Field M and Gecz J.

    Severe neurocognitive and growth disorders due to variation in THOC2, an essential component of nuclear mRNA export machinery

    HUMAN MUTATION . 39(8): 1126-1138. Number of citations: 17

    [doi:10.1002/humu.23557]

  • Urreizti R, Gürsoy S, Castilla-Vallmanya L, Cunill G, Rabionet-Janssen R, Erçal D, Grinberg-Vaisman DR and Balcells S.

    The ASXL1 mutation p.Gly646Trpfs*12 found in a Turkish boy with Bohring-Opitz Syndrome.

    clinical case reports . 6(8): 1452-1456. Number of citations: 4

    [doi:10.1002/ccr3.1603]