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Genètica Molecular Humana I

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Publicacions

  • 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: 19

    [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]

  • Pineda L, Cabana-Domínguez J, Beneto N, Diez H, Arenas C, Cormand B and Fernandez-Castillo N.

    DDC expression is not regulated by NFAT5 (TonEBP) in dopaminergic neural cell lines.

    Gene . 742: 144569-144569. Nº de cites: 1

    [doi:10.1016/j.gene.2020.144569]

  • Roth Mota N, Poelmans G, Klein M, Torrico B, Fernandez-Castillo N, Cormand B, Reif A, Franke B and Arias Vásquez A.

    Cross-disorder genetic analyses implicate dopaminergic signaling as a biological link between Attention-Deficit/Hyperactivity Disorder and obesity measures.

    NEUROPSYCHOPHARMACOLOGY . 45(7): 1188-1195. Nº de cites: 24

    [doi:10.1038/s41386-019-0592-4]

  • Esteller-Cucala P, Maceda I, Børglum AD, Demontis D, Faraone SV, Cormand B and Lao O.

    Genomic analysis of the natural history of attention-deficit/hyperactivity disorder using Neanderthal and ancient Homo sapiens samples.

    SCIENTIFIC REPORTS . 10(1): 8622-8622. Nº de cites: 10

    [doi:10.1038/s41598-020-65322-4]

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

    Looking into the genetic bases of OCD dimensions: a pilot genome-wide association study.

    TRANSLATIONAL PSYCHIATRY . 10(1): 151-151. Nº de cites: 16

    [doi:10.1038/s41398-020-0804-z]

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

    Exploring genetic variants in obsessive compulsive disorder severity: A GWAS approach.

    JOURNAL OF AFFECTIVE DISORDERS . 267: 23-32. Nº de cites: 3

    [doi:10.1016/j.jad.2020.01.161]

  • Malekkou A, Sevastou I, Mavrikiou G, Georgiou T, Vilageliu L, Moraitou M, Michelakakis H, Prokopiou C and Drousiotou A.

    A novel mutation deep within intron 7 of the GBA gene causes Gaucher disease.

    Molecular genetics & genomic medicine . 8(3): . Nº de cites: 11

    [doi:10.1002/mgg3.1090]

  • Beneto N, Cozar M, Castilla-Vallmanya L, Zetterdahl OG, Sacultanu M, Segur-Bailach E, García-Morant M, Ribes A, Ahlenius H, Grinberg-Vaisman DR, Vilageliu L and Canals I.

    Neuronal and Astrocytic Differentiation from Sanfilippo C Syndrome iPSCs for Disease Modeling and Drug Development.

    Journal of Clinical Medicine . 9(3): . Nº de cites: 8

    [doi:10.3390/jcm9030644]