Research

Human Molecular Genetics I

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Publications

  • Cornet-Bartolomé D, Barragán M, Zambelli F, Ferrer-Vaquer A, Tiscornia G, Balcells S, Rodriguez A, Grinberg-Vaisman DR and Vassena R.

    Human oocyte meiotic maturation is associated with a specific profile of alternatively spliced transcript isoforms.

    MOLECULAR REPRODUCTION AND DEVELOPMENT . 88(9): 605-617. Number of citations: 4

    [doi:10.1002/mrd.23526]

  • Formosa MM, Bergen DJM, Gregson CL, Maurizi A, Kämpe A, Garcia-Giralt N, Zhou W, Grinberg-Vaisman DR, Ovejero Crespo D, Zillikens MC, Williams GR, Bassett JHD, Brandi ML, Sangiorgi L, Balcells S, Högler W, Van Hul W and Mäkitie O.

    A Roadmap to Gene Discoveries and Novel Therapies in Monogenic Low and High Bone Mass Disorders.

    Frontiers in Endocrinology . 12: 709711-709711. Number of citations: 5

    [doi:10.3389/fendo.2021.709711]

  • Mohr S, Fritz N, Hammer C, Martínez C, Berens S, Schmitteckert S, Wahl V, Schmidt M, Houghton LA, Goebel-Stengel M, Kabisch M, Götze D, Milovac I, D'Amato M, Zheng T, Röth R, Mönnikes H, Engel F, Gauss A, Tesarz J, Raithel M, Andresen V, Frieling T, Keller J, Pehl C, Stein-Thöringer C, Clarke G, Kennedy PJ, Cryan JF, Dinan TG, Quigley EMM, Spiller R, Beltrán C, Madrid AM, Torres V, Pérez de Arce E, Herzog W, Mayer EA, Sayuk G, Gazouli M, Karamanolis G, Kapur-Pojskic L, Bustamante M, Rabionet-Janssen R, Estivil X, Franke A, Lieb W, Boeckxstaens G, Wouters MM, Simrén M, Rappold GA, Vicario M, Santos J, Schaefert R, Lorenzo-Bermejo J and Niesler B.

    The alternative serotonin transporter promoter P2 impacts gene function in females with irritable bowel syndrome

    Journal Of Cellular And Molecular Medicine . 25(16): 8047-8061. Number of citations: 4

    [doi:10.1111/jcmm.16736]

  • Ugartondo N, Martinez-Gil N, Esteve M, Garcia-Giralt N, Roca N, Ovejero D, Nogués X, Díez-Pérez A, Rabionet-Janssen R, Grinberg-Vaisman DR and Balcells S.

    Functional Analyses of Four CYP1A1 Missense Mutations Present in Patients with Atypical Femoral Fractures

    INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES . 22(14): 7395. Number of citations: 3

    [doi:10.3390/ijms22147395]

  • Griñán-Ferré C, Companys-Alemany J, Jarné-Ferrer J, Codony S, González-Castillo C, Ortuño-Sahagún D, Vilageliu L, Grinberg-Vaisman DR, Vázquez S and Pallàs M.

    Inhibition of Soluble Epoxide Hydrolase Ameliorates Phenotype and Cognitive Abilities in a Murine Model of Niemann Pick Type C Disease

    INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES . 22(7): 3409. Number of citations: 2

    [doi:10.3390/ijms22073409]

  • Pineda L, Cabana-Domínguez J, Grau-López L, Daigre C, Sánchez-Mora C, Palma-Álvarez RF, Ramos-Quiroga JA, Ribasés M, Cormand B and Fernandez-Castillo N.

    Exploring allele specific methylation in drug dependence susceptibility.

    JOURNAL OF PSYCHIATRIC RESEARCH . 136: 474-482. Number of citations: 1

    [doi:10.1016/j.jpsychires.2020.07.044]

  • Susak H, Serra-Saurina L, Demidov G, Rabionet-Janssen R, Domènech L, Bosio M, Muyas F, Estivill X, Escaramís G and Ossowski S.

    Efficient and flexible Integration of variant characteristics in rare variant association studies using integrated nested Laplace approximation

    PLOS COMPUTATIONAL BIOLOGY . 17(2): . Number of citations: 4

    [doi:10.1371/journal.pcbi.1007784]

  • Demontis, Ditte, Walters, Raymond K, Rajagopal, Veera M, Waldman, Irwin D, Grove, Jakob, Als, Thomas D, Dalsgaard, Soren, Ribasas, Marta, Bybjerg-Grauholm, Jonas, Bakvad-Hansen, Maria, Werge, Thomas, Nordentoft, Merete, Mors, Ole, Mortensen, Preben Bo, Cormand B, Hougaard, David M, Neale, Benjamin M, Franke, Barbara, Faraone, Stephen V and Borglum, Anders D.

    Risk variants and polygenic architecture of disruptive behavior disorders in the context of attention-deficit/hyperactivity disorder

    NATURE COMMUNICATIONS . 12(1): 576-576. Number of citations: 11

    [doi:10.1038/s41467-020-20443-2]

  • Peña-Chilet M, Roldán G, Perez-Florido J, Ortuño FM, Carmona R, Aquino V, Lopez-Lopez D, Loucera C, Fernandez-Rueda JL, Gallego A, García-Garcia F, González-Neira A, Pita G, Núñez-Torres R, Santoyo-López J, Ayuso C, Minguez P, Avila-Fernandez A, Corton M, Moreno-Pelayo MÁ, Morin M, Gallego-Martinez A, Lopez-Escamez JA, Borrego S, Antiñolo G, Amigo J, Salgado-Garrido J, Pasalodos-Sanchez S, Morte B, Spanish Exome Crowdsourcing Consortium, Carracedo Á, Alonso Á and Dopazo J.

    CSVS, a crowdsourcing database of the Spanish population genetic variability.

    NUCLEIC ACIDS RESEARCH . 49(D1): 1130-1137. Number of citations: 28

    [doi:10.1093/nar/gkaa794]

  • Martinez-Gil N, Roca N, Cozar M, Garcia-Giralt N, Ovejero D, Nogués X, Grinberg-Vaisman DR and Balcells S.

    Genetics and Genomics of SOST: Functional Analysis of Variants and Genomic Regulation in Osteoblasts.

    INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES . 22(2): 489. Number of citations: 6

    [doi:10.3390/ijms22020489]