Research

Human Molecular Genetics I

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Publications

  • 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. Number of citations: 15

    [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. Number of citations: 10

    [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. Number of citations: 64

    [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. Number of citations: 17

    [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. Number of citations: 35

    [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. Number of citations: 21

    [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): . Number of citations: 12

    [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. Number of citations: 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. Number of citations: 26

    [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. Number of citations: 13

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