Investigación

Genética Molecular Humana I

Buscador de publicaciones

Publicaciones

  • 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. Nº de citas: 11

    [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. Nº de citas: 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. Nº de citas: 84

    [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. Nº de citas: 22

    [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. Nº de citas: 44

    [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. Nº de citas: 19

    [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): . Nº de citas: 7

    [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. Nº de citas: 32

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

  • Mola-Caminal M, Carrera C, Soriano-Tárraga C, Giralt-Steinhauer E, Díaz-Navarro RM, Tur S, Jiménez C, Medina-Dols A, Cullell N, Torres-Aguila NP, Muiño E, Rodríguez-Campello A, Ois A, Cuadrado-Godia E, Vivanco-Hidalgo RM, Hernandez-Guillamon M, Solé M, Delgado P, Bustamante A, García-Berrocoso T, Mendióroz M, Castellanos M, Serena J, Martí-Fàbregas J, Segura T, Serrano-Heras G, Obach V, Ribó M, Molina CA, Alvarez-Sabín J, Palomeras E, Freijo M, Font MA, Rosand J, Rost NS, Gallego-Fabrega C, Lee JM, Heitsch L, Ibanez L, Cruchaga C, Phuah CL, Lemmens R, Thijs V, Lindgren A, Maguire J, Rannikmae K, Sudlow CL, Jern C, Stanne TM, Lorentzen E, Muñoz-Narbona L, Dávalos A, López-Cancio E, Worrall BB, Woo D, Kittner SJ, Mitchell BD, Montaner J, Roquer J, Krupinski J, Estivill X, Rabionet-Janssen R, Vives-Bauzá C, Fernández-Cadenas I and Jiménez-Conde J.

    PATJ Low Frequency Variants Are Associated With Worse Ischemic Stroke Functional Outcome A Genome-Wide Meta-Analysis

    CIRCULATION RESEARCH . 124(1): 114-120. Nº de citas: 49

    [doi:10.1161/CIRCRESAHA.118.313533]

  • Muyas F, Bosio M, Puig A, Susak H, Domènech L, Escaramis G, Zapata L, Demidov G, Estivill X, Rabionet-Janssen R and Ossowski S.

    Allele balance bias identifies systematic genotyping errors and false disease associations.

    HUMAN MUTATION . 40(1): 115-126. Nº de citas: 21

    [doi:10.1002/humu.23674]