Research

Human Molecular Genetics I

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Publications

  • 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. Number of citations: 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. Number of citations: 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. Number of citations: 42

    [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. Number of citations: 30

    [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. Number of citations: 17

    [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. Number of citations: 43

    [doi:10.1093/brain/awz248]

  • Steyn A, Crowther NJ, Norris SA, Rabionet-Janssen R, Estivill X and Ramsay M.

    Epigenetic modification of the pentose phosphate pathway and the IGF-axis in women with gestational diabetes mellitus.

    EPIGENOMICS . 11(12): 1371-1385. Number of citations: 10

    [doi:10.2217/epi-2018-0206]

  • Torrico B, Shaw AD, Mosca R, Vivó-Luque N, Hervás A, Fernandez-Castillo N, Aloy P, Bayés M, Fullerton JM, Cormand B and Toma C.

    Truncating variant burden in high-functioning autism and pleiotropic effects of LRP1 across psychiatric phenotypes.

    JOURNAL OF PSYCHIATRY & NEUROSCIENCE . 44(5): 350-359. Number of citations: 15

    [doi:10.1503/jpn.180184]

  • Cabana-Domínguez J, Shivalikanjli A, Fernandez-Castillo N and Cormand B.

    Genome-wide association meta-analysis of cocaine dependence: Shared genetics with comorbid conditions

    PROGRESS IN NEURO-PSYCHOPHARMACOLOGY & BIOLOGICAL PSYCHIATRY . 94: 109667-109667. Number of citations: 32

    [doi:10.1016/j.pnpbp.2019.109667]

  • Chelban V, Wilson MP, Warman Chardon J, Vandrovcova J, Zanetti MN, Zamba-Papanicolaou E, Efthymiou S, Pope S, Conte MR, Abis G, Liu YT, Tribollet E, Haridy NA, Botía JA, Ryten M, Nicolaou P, Minaidou A, Christodoulou K, Kernohan KD, Eaton A, Osmond M, Ito Y, Bourque P, Jepson JEC, Bello O, Bremner F, Cordivari C, Reilly MM, Foiani M, Heslegrave A, Zetterberg H, Heales SJR, Wood NW, Rothman JE, Boycott KM, Mills PB, Clayton PT, Houlden H and Care4Rare Canada Consortium and the SYNaPS Study Group.

    PDXK mutations cause polyneuropathy responsive to pyridoxal 5'-phosphate supplementation.

    ANNALS OF NEUROLOGY . 86(2): 225-240. Number of citations: 63

    [doi:10.1002/ana.25524]