• Source: Scopus
  • Calculated based on no. of publications stored in Pure and citations from Scopus
20022021

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  • Case Report: Partial Uniparental Disomy Unmasks a Novel Recessive Mutation in the LYST Gene in a Patient With a Severe Phenotype of Chédiak-Higashi Syndrome

    Boluda-Navarro, M., Ibáñez, M., Liquori, A., Franco-Jarava, C., Martínez-Gallo, M., Rodríguez-Vega, H., Teresa, J., Carreras, C., Such, E., Zúñiga, Á., Colobran, R. & Cervera, J. V., 31 Mar 2021, In: Frontiers in immunology. 12, 625591.

    Research output: Contribution to journalArticleResearchpeer-review

    Open Access
  • Inherited GATA2 Deficiency Is Dominant by Haploinsufficiency and Displays Incomplete Clinical Penetrance

    Oleaga-Quintas, C., de Oliveira-Júnior, E. B., Rosain, J., Rapaport, F., Deswarte, C., Guérin, A., Sajjath, S. M., Zhou, Y. J., Marot, S., Lozano, C., Branco, L., Fernández-Hidalgo, N., Lew, D. B., Brunel, A. S., Thomas, C., Launay, E., Arias, A. A., Cuffel, A., Monjo, V. C., Neehus, A. L. & 40 others, Marques, L., Roynard, M., Moncada-Vélez, M., Gerçeker, B., Colobran, R., Vigué, M. G., Lopez-Herrera, G., Berron-Ruiz, L., Méndez, N. H. S., O’Farrill Romanillos, P., Le Voyer, T., Puel, A., Bellanné-Chantelot, C., Ramirez, K. A., Lorenzo-Diaz, L., Alejo, N. R., de Diego, R. P., Condino-Neto, A., Mellouli, F., Rodriguez-Gallego, C., Witte, T., Restrepo, J. F., Jobim, M., Boisson-Dupuis, S., Jeziorski, E., Fieschi, C., Vogt, G., Donadieu, J., Pasquet, M., Vasconcelos, J., Ardeniz, F. O., Martínez-Gallo, M., Campos, R. A., Jobim, L. F., Martínez-Barricarte, R., Liu, K., Cobat, A., Abel, L., Casanova, J. L. & Bustamante, J., Apr 2021, In: Journal of Clinical Immunology. 41, 3, p. 639-657 19 p.

    Research output: Contribution to journalArticleResearchpeer-review

    4 Citations (Scopus)
  • 50 años del Programa de Cribado Neonatal en Cataluña

    Marín Soria, J. L., López Galera, R. M., Argudo Ramírez, A., González de Aledo, J. M., Pajares García, S., Navarro Sastre, A., Hernandez Pérez, J. M., Ribes Rubio, A., Gort Mas, L., García Villoria, J., Gartner Tizano, S., Rovira Amigo, S., Asensio de la Cruz, O., García González, M., Cols Roig, M., Costa Colomer, J., Bádenas Orquin, C., Yeste Fernández, D., Campos Martorell, A., Clemente León, M. & 40 others, Mogas Viñals, E., Ferrer Costa, R., Giralt Arnaiz, M., Campistol Plana, J., García Cazorla, Á., Beneitez Pastor, D., Ortuño Cabrero, A., Blanco Álvarez, A., Tazón Vega, B., Roué, G., Velasco Puyo, P., Murciano Carrillo, T., Murillo Sanjuan, L., Díaz de Heredia Rubio, C., Mañú Pereira, M. D. M., Vives Corrons, J. L., Arranz Amo, J. A., Carnicer Cáceres, C., Del Toro Riera, M., Ormazábal Herrero, A., Artuch Iriberri, R., García-Volpe, C., de Los Santos, M. M., Sierra March, C., Ruiz Hernández, C. J., Meavilla Olivas, S. M., Martín Nalda, A., Rivière, J. G., Parra Martínez, A., Soler Palacín, P., Martínez Gallo, M., Colobran, R., Casals Senent, T., Armelles Sebastia, M., Vidal Benede, M. J., Jané Checa, M., Fernández Bordón, R. M., Asso Ministral, L., Prats Viedma, B. & Cabezas Peña, C., 16 Dec 2020, In: Revista Espanola de Salud Publica. 94

    Research output: Contribution to journalArticleResearchpeer-review

    1 Citation (Scopus)
  • FHLdb: A Comprehensive Database on the Molecular Basis of Familial Hemophagocytic Lymphohistiocytosis

    Viñas-Giménez, L., Padilla, N., Batlle-Masó, L., Casals, F., Rivière, J. G., Martínez-Gallo, M., de la Cruz, X. & Colobran, R., 31 Jan 2020, In: Frontiers in immunology. 11, 107.

    Research output: Contribution to journalArticleResearchpeer-review

    Open Access
    1 Citation (Scopus)
  • Molecular analysis of the novel L243R mutation in STXBP2 reveals impairment of degranulation activity

    Viñas-Giménez, L., Donadeu, L., Alsina, L., Rincón, R., de la Campa, E. Á., Esteve-Sole, A., Català, A., Colobran, R., de la Cruz, X., Sayós, J. & Martínez-Gallo, M., 1 Mar 2020, In: International Journal of Hematology. 111, 3, p. 440-450 11 p.

    Research output: Contribution to journalArticleResearchpeer-review