Recerca

Genètica Molecular Humana I

Buscador de publicacions

Publicacions

  • Castellanos E, Rosas I, Negro A, Gel B, Alibés A, Baena N, Pineda M, Pi G, Pintos G, Salvador-Hernandez H, Lazaro C, Blanco I, Vilageliu L, Brems H, Grinberg-Vaisman DR, Legius E and Serra E.

    Mutational spectrum by phenotype: panel-based NGS testing of patients with clinical suspicion of RASopathy and children with multiple café-au-lait macules.

    CLINICAL GENETICS . 97(2): 264-275. Nº de cites: 14

    [doi:10.1111/cge.13649]

  • Beneto N, Cozar M, Gort L, Pacheco L, Vilageliu L, Grinberg-Vaisman DR and Canals I.

    Generation of two NAGLU-mutated homozygous cell lines from healthy induced pluripotent stem cells using CRISPR/Cas9 to model Sanfilippo B syndrome.

    STEM CELL RESEARCH . 42: 101668-101668. Nº de cites: 4

    [doi:10.1016/j.scr.2019.101668]

  • Leon E, Diaz J, Castilla-Vallmanya L, Grinberg-Vaisman DR, Balcells S and Urreizti R.

    Extending the phenotypic spectrum of Bohring-Opitz syndrome: Mild case confirmed by functional studies.

    AMERICAN JOURNAL OF MEDICAL GENETICS PART A . 182(1): 201-204. Nº de cites: 5

    [doi:10.1002/ajmg.a.61397]

  • 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 cites: 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 cites: 10

    [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 cites: 25

    [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 cites: 660

    [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 cites: 7

    [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 cites: 37

    [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 cites: 42

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