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Publicacions

  • Vaht M, Laas K, Fernandez-Castillo N, Kurrikoff T, Kanarik M, Faraone SV, Tooding LM, Veidebaum T, Franke B, Reif A, Cormand B and Harro J.

    Variants of the Aggression-Related RBFOX1 Gene in a Population Representative Birth Cohort Study: Aggressiveness, Personality, and Alcohol Use Disorder.

    Frontiers in Psychiatry . 11: 501847-501847. Nº de cites: 2

    [doi:10.3389/fpsyt.2020.501847]

  • Navas-Pérez E, Vicente-García C, Mirra S, Burguera D, Fernandez-Castillo N, Ferrán JL, López-Mayorga M, Alaiz-Noya M, Suárez-Pereira I, Antón-Galindo E, Ulloa F, Herrera-Úbeda C, Cuscó P, Falcón-Moya R, Rodríguez-Moreno A, D'Aniello S, Cormand B, Marfany G, Soriano E, Carrión ÁM, Carvajal JJ and Garcia-Fernàndez J.

    Characterization of an eutherian gene cluster generated after transposon domestication identifies Bex3 as relevant for advanced neurological functions.

    Genome Biology . 21(1): 267-267. Nº de cites: 10

    [doi:10.1186/s13059-020-02172-3]

  • Beneto N, Vilageliu L, Grinberg-Vaisman DR and Canals I.

    Sanfilippo Syndrome: Molecular Basis, Disease Models and Therapeutic Approaches.

    INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES . 21(21): . Nº de cites: 18

    [doi:10.3390/ijms21217819]

  • Matalonga L, Laurie S, Papakonstantinou A, Piscia D, Mereu E, Bullich G, Thompson R, Horvath R, Pérez-Jurado L, Riess O, Gut I, van Ommen GJ, Lochmüller H, Beltran S and RD–Connect Genome-Phenome Analysis Platform and URD-Cat Data Contributors.

    Improved Diagnosis of Rare Disease Patients through Systematic Detection of Runs of Homozygosity.

    JOURNAL OF MOLECULAR DIAGNOSTICS . 22(9): 1205-1215. Nº de cites: 12

    [doi:10.1016/j.jmoldx.2020.06.008]

  • Dimitriou E, Moraitou M, Cozar M, Serra-Vinardell J, Vilageliu L, Grinberg-Vaisman DR, Mavridou I and Michelakakis H.

    Gaucher disease: Biochemical and molecular findings in 141 patients diagnosed in Greece.

    Molecular genetics and metabolism reports . 24: 100614-100614. Nº de cites: 8

    [doi:10.1016/j.ymgmr.2020.100614]

  • Rovira P, Demontis D, Sánchez-Mora C, Zayats T, Klein M, Mota NR, Weber H, Garcia-Martínez I, Pagerols M, Vilar L, Arribas L, Richarte V, Corrales M, Fadeuilhe C, Bosch R, Martin GE, Almos P, Doyle AE, Grevet EH, Grimm O, Halmøy A, Hoogman M, Hutz M, Jacob CP, Kittel-Schneider S, Knappskog PM, Lundervold AJ, Rivero O, Rovaris DL, Salatino-Oliveira A, da Silva BS, Svirin E, Sprooten E, Strekalova T, ADHD Working Group of the Psychiatric Genomics Consortium, 23andMe Research team, Arias-Vasquez A, Sonuga-Barke EJS, Asherson P, Bau CHD, Buitelaar JK, Cormand B, Faraone SV, Haavik J, Johansson SE, Kuntsi J, Larsson H, Lesch KP, Reif A, Rohde LA, Casas M, Børglum AD, Franke B, Ramos-Quiroga JA, Artigas MS and Ribasés M.

    Shared genetic background between children and adults with attention deficit/hyperactivity disorder.

    NEUROPSYCHOPHARMACOLOGY . 45(10): 1617-1626. Nº de cites: 59

    [doi:10.1038/s41386-020-0664-5]

  • Corominas J, Klein M, Zayats T, Rivero O, Ziegler GC, Pauper M, Neveling K, Poelmans G, Jansch C, Svirin E, Geissler J, Weber H, Reif A, Arias Vasquez A, Galesloot TE, Kiemeney LALM, Buitelaar JK, Ramos-Quiroga JA, Cormand B, Ribasés M, Hveem K, Gabrielsen ME, Hoffmann P, Cichon S, Haavik J, Johansson S, Jacob CP, Romanos M, Franke B and Lesch KP.

    Identification of ADHD risk genes in extended pedigrees by combining linkage analysis and whole-exome sequencing.

    MOLECULAR PSYCHIATRY . 25(9): 2047-2057. Nº de cites: 16

    [doi:10.1038/s41380-018-0210-6]

  • Martín-Nalda A, Fortuny-Guasch C, Rey L, Bunney TD, Alsina L, Esteve-Solé A, Bull D, Anton MC, Basagaña M, Casals F, Deyá A, García-Prat M, Gimeno R, Juan-Otero M, Martinez-Banaclocha H, Martinez-Garcia JJ, Mensa-Vilaró A, Rabionet-Janssen R, Martin-Begue N, Rudilla F, Yagüe-Ribes J, Estivill X, García-Patos V, Pujol RM, Soler-Palacín P, Katan M, Pelegrín P, Colobran R, Vicente-Villa MA and Arostegui-Gorospe JI.

    Severe Autoinflammatory Manifestations and Antibody Deficiency Due to Novel Hypermorphic PLCG2 Mutations

    JOURNAL OF CLINICAL IMMUNOLOGY . 40(7): 987-1000. Nº de cites: 33

    [doi:10.1007/s10875-020-00794-7]

  • Castilla-Vallmanya L, Selmer KK, Dimartino C, Rabionet-Janssen R, Blanco-Sánchez B, Yang S, Reijnders MRF, van Essen AJ, Oufadem M, Vigeland MD, Stadheim B, Houge G, Cox H, Kingston H, Clayton-Smith J, Innis JW, Iascone M, Cereda A, Gabbiadini S, Chung WK, Sanders V, Charrow J, Bryant E, Millichap J, Vitobello A, Thauvin C, Mau-Them FT, Faivre L, Lesca G, Labalme A, Rougeot C, Chatron N, Sanlaville D, Christensen KM, Kirby A, Lewandowski R, Gannaway R, Aly M, Lehman A, Clarke L, Graul-Neumann L, Zweier C, Lessel D, Lozic B, Aukrust I, Peretz R, Stratton R, Smol T, Dieux-Coëslier A, Meira J, Wohler E, Sobreira N, Beaver EM, Heeley J, Briere LC, High FA, Sweetser DA, Walker MA, Keegan CE, Jayakar P, Shinawi M, Kerstjens-Frederikse WS, Earl DL, Siu VM, Reesor E, Yao T, Hegele RA, Vaske OM, Rego S, Undiagnosed Diseases Network, Care4Rare Canada Consortium, Shapiro KA, Wong B, Gambello MJ, McDonald M, Karlowicz D, Colombo R, Serretti A, Pais L, O'Donnell-Luria A, Wray A, Sadedin S, Chong B, Tan TY, Christodoulou J, White SM, Slavotinek A, Barbouth D, Morel Swols D, Parisot M, Bole-Feysot C, Nitschké P, Pingault V, Munnich A, Cho MT, Cormier-Daire V, Balcells S, Lyonnet S, Grinberg-Vaisman DR, Amiel J, Urreizti R and Gordon CT.

    Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7.

    GENETICS IN MEDICINE . 22(7): 1215-1226. Nº de cites: 15

    [doi:10.1038/s41436-020-0792-7]

  • Torrico B, Antón-Galindo E, Fernandez-Castillo N, Rojo-Francàs E, Ghorbani S, Pineda L, Hervás A, Rueda I, Moreno E, Fullerton JM, Casadó V, Buitelaar JK, Rommelse N, Franke B, Reif A, Chiocchetti AG, Freitag C, Kleppe R, Haavik J, Toma C and Cormand B.

    Involvement of the 14-3-3 Gene Family in Autism Spectrum Disorder and Schizophrenia: Genetics, Transcriptomics and Functional Analyses.

    Journal of Clinical Medicine . 9(6): . Nº de cites: 11

    [doi:10.3390/jcm9061851]