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Roger Colobran Oriol

 https://orcid.org/0000-0002-5964-536X
    Calculated based on number of publications stored in Pure and citations from Scopus
    20022023

    Research activity per year

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    Expertise related to UN Sustainable Development Goals

    In 2015, UN member states agreed to 17 global Sustainable Development Goals (SDGs) to end poverty, protect the planet and ensure prosperity for all. This person’s work contributes towards the following SDG(s):

    • SDG 3 - Good Health and Well-being
    • SDG 10 - Reduced Inequalities

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    • Inborn errors of OAS-RNase L in SARS-CoV-2-related multisystem inflammatory syndrome in children

      Peel, J., Chan, Y.-H., Morin, M.-P., Pino-Ramirez, R. M., Belkaya, S., Lorenzo, L., Anton, J., Delafontaine, S., Toubiana, J., Bajolle, F., Fumadó, V., DeDiego, M. L., Fidouh, N., Rozenberg, F., Pérez-Tur, J., hen, S., Evans, T. & Geissmann, F. & 38 others, Lebon, P., Weiss, S. R., Bonnet, D., Duval, X., Pan-Hammarström, Q., Planas, A. M., Meyts, I., Haerynck, F., Pujol, A., Sancho-Shimizu, V., Dalgard, C. L., Bustamante, J., Puel, A., Boisson-Dupuis, S., Boisson, B., Maniatis, T., Zhang, Q., Bastard, P., Notarangelo, L., Béziat, V., Perez de Diego, R., Rodriguez-Gallego, C., Su, H. C., Lifton, R. P., Jouanguy, E., Cobat, A., Alsina, L., Keles, S., Haddad, E., Abel, L., Belot, A., Quintana-Murci, L., Rice, C. M., Silverman, R. H., Zhang, S.-Y., Casanova, J.-L., Colobran Oriol, R. & Rodriguez Palmero Seuma, A., 10 Feb 2023, In: Science. 379, 6632, 21 p., eabo3627.

      Research output: Contribution to journal › Article › Research › peer-review

      Open Access
      75 Citations (Scopus)

    • Rare predicted loss-of-function variants of type I IFN immunity genes are associated with life-threatening COVID-19

      Colobrán Oriol, R., Matuozzo, D., Talouarn, E., Marchal, A., Zhang, P., Manry, J., Seeleuthner, Y., Zhang, Y., Bolze, A., Chaldebas, M., Milisavljevic, B., Gervais, A., Bastard, P., Asano, T., Bizien, L., Barzaghi, F., Abolhassani, H., Abou Tayoun, A., Aiuti, A. & Alavi Darazam, I. & 101 others, Allende, L. M., Alonso-Arias, R., Arias, A. A., Aytekin, G., Bergman, P., Bondesan, S., Bryceson, Y. T., Bustos, I. G., Cabrera-Marante, O., Carcel, S., Carrera, P., Casari, G., Chaïbi, K., Condino-Neto, A., Covill, L. E., Delmonte, O. M., El Zein, L., Flores, C., Gregersen, P. K., Gut, M., Haerynck, F., Halwani, R., Hancerli, S., Hammarström, L., Hatipoğlu, N., Karbuz, A., Keles, S., Kyheng, C., Leon-Lopez, R., Franco, J. L., Mansouri, D., Martínez Picado, F. J., Metin Akcan, O., Migeotte, I., Morange, P.-E., Morelle, G., Martín-Nalda, A., Novelli, G., Novelli, A., Ozcelik, T., Palabiyik, F., Pan-Hammarström, Q., de Diego, R. P., Planas-Serra, L., Pleguezuelo, D. E., Prando, C., Pujol, A., Reyes, L. F., Rivière, J. G., Rodriguez-Gallego, C., Rojas, J., Rovere-Querini, P., Schlüter, A., Shahrooei, M., Sobh, A., Soler-Palacín, P., Tandjaoui-Lambiotte, Y., Tipu, I., Tresoldi, C., Troya, J., van de Beek, D., Zatz, M., Zawadzki, P., Al-Muhsen, S. Z., Alosaimi, M. F., Alsohime, F. M., Baris-Feldman, H., Butte, M. J., Constantinescu, S. N., Cooper, M. A., Dalgard, C. L., Fellay, J., Heath, J. R., Lau, Y.-L., Lifton, R. P., Maniatis, T., Mogensen, T. H., von Bernuth, H., Lermine, A., Vidaud, M., Boland, A., Deleuze, J.-F., Nussbaum, R., Kahn-Kirby, A., Mentre, F., Tubiana, S., Gorochov, G., Tubach, F., Hausfater, P., Meyts, I., Zhang, S.-Y., Puel, A., Notarangelo, L. D., Boisson-Dupuis, S., Su, H. C., Boisson, B., Jouanguy, E., Casanova, J.-L., Zhang, Q., Abel, L. & Cobat, A., 2023, In: Genome Medicine. 15, 25 p., 22.

      Research output: Contribution to journal › Article › Research › peer-review

      Open Access
      31 Citations (Scopus)

    • Case Report : X-Linked SASH3 Deficiency Presenting as a Common Variable Immunodeficiency

      Labrador Horrillo, M., Franco-Jarava, C., Garcia-Prat, M., Parra-Martínez, A., Antolín Mate, M., Salgado-Perandrés, S., Aguiló-Cucurull, A., Martinez-Gallo, M. & Colobrán Oriol, R., 2022, In: Frontiers in Immunology. 13

      Research output: Contribution to journal › Article › Research › peer-review

      Open Access
      8 Citations (Scopus)

    • Common Variable Immunodeficiency and Neurodevelopmental Delay Due to a 13Mb Deletion on Chromosome 4 Including the NFKB1 Gene : A Case Report

      Franco-Jarava, C., Valenzuela, I., Riviere, J. G., Garcia-Prat, M., Martínez Gallo, M., Dieli-Crimi, R., Castells Sarret, N., Batlle-Masó, L., Soler-Palacín, P. & Colobrán Oriol, R., 2022, In: Frontiers in Immunology. 13

      Research output: Contribution to journal › Article › Research › peer-review

      Open Access
      3 Citations (Scopus)

    • Detection and evolutionary dynamics of somatic FAS variants in autoimmune lymphoproliferative syndrome : Diagnostic implications

      Batlle-Masó, L., Garcia-Prat, M., Parra-Martínez, A., Franco-Jarava, C., Aguiló-Cucurull, A., Velasco, P., Antolín, M., Rivière, J. G., Martín-Nalda, A., Soler-Palacín, P., Martínez Gallo, M. & Colobrán Oriol, R., 2022, In: Frontiers in Immunology. 13

      Research output: Contribution to journal › Article › Research › peer-review

      Open Access
      1 Citation (Scopus)
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