Research

Human Molecular Genetics I

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Publications

  • 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]

  • Bosio M, Drechsel O, Rahman R, Muyas F, Rabionet-Janssen R, Bezdan D, Domenech Salgado L, Hor H, Schott JJ, Munell F, Colobran R, Macaya A, Estivill X and Ossowski S.

    eDiVA-Classification and prioritization of pathogenic variants for clinical diagnostics

    HUMAN MUTATION . 40(7): 865-878. Number of citations: 11

    [doi:10.1002/humu.23772]

  • Roca N, Martinez-Gil N, Cozar M, Gerousi M, Garcia-Giralt N, Ovejero D, Mellibovsky L, Nogués X, Díez-Pérez A, Grinberg-Vaisman DR and Balcells S.

    Functional characterization of the C7ORF76 genomic region, a prominent GWAS signal for osteoporosis in 7q21.3.

    Bone . 123: 39-47. Number of citations: 9

    [doi:10.1016/j.bone.2019.03.014]

  • Madrigal I, Rabionet-Janssen R, Alvarez-Mora MI, Sanchez A, Rodríguez-Revenga L, Estivill X and Mila M.

    Spectrum of clinical heterogeneity of beta-tubulin TUBB5 gene mutations

    Gene . 695: 12-17. Number of citations: 10

    [doi:10.1016/j.gene.2019.02.002]

  • Salpietro V, Malintan NT, Llano-Rivas I, Spaeth CG, Efthymiou S, Striano P, Vandrovcova J, Cutrupi MC, Chimenz R, David E, Di Rosa G, Marce-Grau A, Raspall-Chaure M, Martin-Hernandez E, Zara F, Minetti C, Deciphering Developmental Disorders Study, SYNAPS Study Group, Bello OD, De Zorzi R, Fortuna S, Dauber A, Alkhawaja M, Sultan T, Mankad K, Vitobello A, Thomas Q, Mau-Them FT, Faivre L, Martinez-Azorin F, Prada CE, Macaya A, Kullmann DM, Rothman JE, Krishnakumar SS and Houlden H.

    Mutations in the Neuronal Vesicular SNARE VAMP2 Affect Synaptic Membrane Fusion and Impair Human Neurodevelopment.

    AMERICAN JOURNAL OF HUMAN GENETICS . 104(4): 721-730. Number of citations: 72

    [doi:10.1016/j.ajhg.2019.02.016]

  • Rabionet-Janssen R, Remesal A, Mensa-Vilaró A, Murías S, Alcobendas R, González-Roca E, Ruiz-Ortiz E, Anton-Lopez J, Iglesias-Jimenez E, Modesto C, Comas D, Puig A, Drechsel O, Ossowski S, Yagüe-Ribes J, Merino R, Estivill X and Arostegui-Gorospe JI.

    Biallelic loss-of-function LACC1/FAMIN Mutations Presenting as Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis

    SCIENTIFIC REPORTS . 9: 4579-4579. Number of citations: 20

    [doi:10.1038/s41598-019-40874-2]

  • Larsson SC, Traylor M, Burgess S, Boncoraglio GB, Jern C, Michaëlsson K, Markus HS and MEGASTROKE project of the International Stroke Genetics Consortium.

    Serum magnesium and calcium levels in relation to ischemic stroke: Mendelian randomization study.

    Neurology . 92(9): 944-950. Number of citations: 34

    [doi:10.1212/WNL.0000000000007001]

  • Alemany-Navarro M, Costas J, Real E, Segalàs C, Bertolín S, Domènech L, Rabionet-Janssen R, Carracedo Á, Menchón JM and Alonso P.

    Do polygenic risk and stressful life events predict pharmacological treatment response in obsessive compulsive disorder? A gene-environment interaction approach.

    TRANSLATIONAL PSYCHIATRY . 9(1): 70-70. Number of citations: 16

    [doi:10.1038/s41398-019-0410-0]

  • Mason S, Castilla-Vallmanya L, James C, Andrews PI, Balcells S, Grinberg-Vaisman DR, Kirk EP and Urreizti R.

    Case report of a child bearing a novel deleterious splicing variant in PIGT

    Medicine . 98(8): . Number of citations: 5

    [doi:10.1097/MD.0000000000014524]

  • Arcos-Burgos M, Vélez JI, Martinez AF, Ribasés M, Ramos-Quiroga JA, Sánchez-Mora C, Richarte V, Roncero C, Cormand B, Fernandez-Castillo N, Casas M, Lopera F, Pineda DA, Palacio JD, Acosta-López JE, Cervantes-Henriquez ML, Sánchez-Rojas MG, Puentes-Rozo PJ, Molina BSG, MTA Cooperative Group, Boden MT, Wallis D, Lidbury B, Newman S, Easteal S, Swanson J, Patel H, Volkow N, Acosta MT, Castellanos FX, de Leon J, Mastronardi CA and Muenke M.

    ADGRL3 (LPHN3) variants predict substance use disorder

    TRANSLATIONAL PSYCHIATRY . 9(1): 42-42. Number of citations: 26

    [doi:10.1038/s41398-019-0396-7]