Investigación

Genética Molecular Humana I

Buscador de publicaciones

Publicaciones

  • Serra-Vinardell J, Roca N, De-Ugarte L, Vilageliu L, Balcells S and Grinberg-Vaisman DR.

    Bone development and remodeling in metabolic disorders.

    JOURNAL OF INHERITED METABOLIC DISEASE . 43(1): 133-144. Nº de citas: 10

    [doi:10.1002/jimd.12097]

  • Urreizti R, Mayer K, Evrony GD, Said E, Castilla-Vallmanya L, Cody NAL, Plasencia G, Gelb BD, Grinberg-Vaisman DR, Brinkmann U, Webb BD and Balcells S.

    DPH1 syndrome: two novel variants and structural and functional analyses of seven missense variants identified in syndromic patients.

    EUROPEAN JOURNAL OF HUMAN GENETICS . 28(1): 64-75. Nº de citas: 14

    [doi:10.1038/s41431-019-0374-9]

  • Fernandez-Castillo N, Gan G, van Donkelaar MMJ, Vaht M, Weber H, Retz W, Meyer-Lindenberg A, Franke B, Harro J, Reif A, Faraone SV and Cormand B.

    RBFOX1, encoding a splicing regulator, is a candidate gene for aggressive behavior.

    EUROPEAN NEUROPSYCHOPHARMACOLOGY . 30: 44-55. Nº de citas: 36

    [doi:10.1016/j.euroneuro.2017.11.012]

  • .

    Genomic Relationships, Novel Loci, and Pleiotropic Mechanisms across Eight Psychiatric Disorders.

    Cell . 179(7): 1469. Nº de citas: 735

    [doi:10.1016/j.cell.2019.11.020]

  • Beneto N, Cozar M, García-Morant M, Creus-Bachiller E, Vilageliu L, Grinberg-Vaisman DR and Canals I.

    Generation of two compound heterozygous HGSNAT-mutated lines from healthy induced pluripotent stem cells using CRISPR/Cas9 to model Sanfilippo C syndrome.

    STEM CELL RESEARCH . 41: 101616-101616. Nº de citas: 8

    [doi:10.1016/j.scr.2019.101616]

  • Krzyzewska IM, Maas SM, Henneman P, Lip KVD, Venema A, Baranano K, Chassevent A, Aref-Eshghi E, van Essen AJ, Fukuda T, Ikeda H, Jacquemont M, Kim HG, Labalme A, Lewis SME, Lesca G, Madrigal I, Mahida S, Matsumoto N, Rabionet-Janssen R, Rajcan-Separovic E, Qiao Y, Sadikovic B, Saitsu H, Sweetser DA, Alders M and Mannens MMAM.

    A genome-wide DNA methylation signature for SETD1B-related syndrome.

    CLINICAL EPIGENETICS . 11(1): 156-156. Nº de citas: 45

    [doi:10.1186/s13148-019-0749-3]

  • Zhang-James Y, Fernandez-Castillo N, Hess JL, Malki K, Glatt SJ, Cormand B and Faraone SV.

    An integrated analysis of genes and functional pathways for aggression in human and rodent models.

    MOLECULAR PSYCHIATRY . 24(11): 1655-1667. Nº de citas: 55

    [doi:10.1038/s41380-018-0068-7]

  • Yao S, Kuja-Halkola R, Martin J, Lu Y, Lichtenstein P, Norring C, Birgegård A, Yilmaz Z, Hübel C, Watson H, Baker J, Almqvist C, Eating Disorders Working Group of the Psychiatric Genomics Consortium, Thornton LM, Magnusson PK, Bulik CM and Larsson H.

    Associations Between Attention-Deficit/Hyperactivity Disorder and Various Eating Disorders: A Swedish Nationwide Population Study Using Multiple Genetically Informative Approaches.

    BIOLOGICAL PSYCHIATRY . 86(8): 577-586. Nº de citas: 35

    [doi:10.1016/j.biopsych.2019.04.036]

  • Pineda L, Shivalikanjli A, Cabana-Domínguez J, Demontis D, Rajagopal VM, Børglum AD, Faraone SV, Cormand B and Fernandez-Castillo N.

    Exploring genetic variation that influences brain methylation in attention-deficit/hyperactivity disorder

    TRANSLATIONAL PSYCHIATRY . 9(1): 242-242. Nº de citas: 20

    [doi:10.1038/s41398-019-0574-7]

  • Efthymiou S, Salpietro V, Malintan N, Poncelet M, Kriouile Y, Fortuna S, De Zorzi R, Payne K, Henderson LB, Cortese A, Maddirevula S, Alhashmi N, Wiethoff S, Ryten M, Botia JA, Provitera V, Schuelke M, Vandrovcova J, SYNAPS Study Group, Walsh L, Torti E, Iodice V, Najafi M, Karimiani EG, Maroofian R, Siquier-Pernet K, Boddaert N, De Lonlay P, Cantagrel V, Aguennouz M, El Khorassani M, Schmidts M, Alkuraya FS, Edvardson S, Nolano M, Devaux J and Houlden H.

    Biallelic mutations in neurofascin cause neurodevelopmental impairment and peripheral demyelination.

    BRAIN . 142(10): 2948-2964. Nº de citas: 57

    [doi:10.1093/brain/awz248]