Roger Colobran Oriol

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842 Citations
17 h-Index
45 Article
3 Review article

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 journal › Article › Research › peer-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 journal › Article › Research › peer-review
8 Citations (Scopus)
50 años del Programa de Cribado Neonatal en Cataluña
Translated title of the contribution: 50 years of the Neonatal Screening Program in CataloniaMarín 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 journal › Article › Research › peer-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 journal › Article › Research › peer-review

Open Access
3 Citations (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 journal › Article › Research › peer-review
1 Citation (Scopus)

Roger Colobran Oriol

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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

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

50 años del Programa de Cribado Neonatal en Cataluña

FHLdb: A Comprehensive Database on the Molecular Basis of Familial Hemophagocytic Lymphohistiocytosis

Molecular analysis of the novel L243R mutation in STXBP2 reveals impairment of degranulation activity

Roger Colobran Oriol

Fingerprint

Network

Research output

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

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

50 años del Programa de Cribado Neonatal en Cataluña

FHLdb: A Comprehensive Database on the Molecular Basis of Familial Hemophagocytic Lymphohistiocytosis

Molecular analysis of the novel L243R mutation in STXBP2 reveals impairment of degranulation activity