| Derechos | Preview | Fecha Public. | Título | Autor(es) | Tipo |
| openAccess |  | 4-mar-2022 | A comprehensive WGS-based pipeline for the identification of new candidate genes in inherited retinal dystrophies | González del Pozo, María CSIC ORCID; Fernández-Suárez, Elena CSIC ORCID; Bravo-Gil, Nereida CSIC; Méndez-Vidal, Cristina CSIC ORCID; Martín-Sánchez, Marta CSIC ORCID; Rodríguez-de-la-Rúa-Franch, Enrique; Ramos-Jiménez, Manuel; Morillo-Sánchez, María José; Borrego, Salud CSIC ORCID; Antiñolo, Guillermo CSIC ORCID | artículo |
| openAccess |  | 8-dic-2020 | A Multi-Strategy Sequencing Workflow in Inherited Retinal Dystrophies: Routine Diagnosis, Addressing Unsolved Cases and Candidate Genes Identification | Martín-Sánchez, Marta CSIC ORCID; Bravo-Gil, Nereida CSIC; González del Pozo, María CSIC ORCID; Méndez-Vidal, Cristina CSIC ORCID; Fernández-Suárez, Elena CSIC ORCID; Rodríguez-de-la-Rúa-Franch, Enrique; Borrego, Salud CSIC ORCID; Antiñolo, Guillermo CSIC ORCID | artículo |
| openAccess |  | may-2022 | CIBERER: Spanish national network for research on rare diseases: A highly productive collaborative initiative | Luque, Juan M. CSIC; Mendes, Ingrid; Gómez, Beatriz; Morte, Beatriz CSIC ORCID; Heredia, Miguel CSIC; Lopez Herreras, Enrique; Corrochano, Virginia; Bueren, Juan; Gallano, Pia; Artuch, Rafael; Fillat, Cristina CSIC; Pérez-Jurado, Luis Alberto; Montoliu, Lluís CSIC ORCID ; Carracedo, Ángel; Millán, José María; Webb, Susan M.; Palau, Francesc; CIBERER Network; Lapunzina, Pablo; Albiñana, Virginia CSIC; Arjona, Emilia CSIC ORCID ; Bernabéu, Carmelo CSIC ORCID ; Botella, Luisa María CSIC ORCID ; Pinto, Sheila CSIC; Rodríguez de Córdoba, Santiago ; Ruiz, Ángela; Antiñolo, Guillermo CSIC ORCID; Borrego, Salud CSIC ORCID; Bravo-Gil, Nereida CSIC; González-del Pozo, María; Méndez-Vidal, Cristina CSIC ORCID; Arbones, Maria L. CSIC ORCID ; Caparrós-Martín, José A. CSIC; Cediel, Rafael CSIC; Contreras, Julio CSIC; Estañ, María Cristina CSIC; Guerrero-López, Rosa CSIC; Jiménez-Estrada, Juan Andrés CSIC; Manguan-García, Cristina CSIC ORCID; Murillo-Cuesta, Silvia CSIC ORCID; Palencia-Campos, Adrián CSIC; Perona Abellón, Rosario CSIC ORCID; Rivera-Barahona, Ana CSIC; Rodriguez-de la Rosa, Lourdes CSIC ORCID; Ruiz-Pérez, Victor L. CSIC ORCID; Sastre, Leandro CSIC ORCID; Valencia, María CSIC; Varela-Nieto, Isabel CSIC ORCID ; Cervera, Javier; Cima, Sergio de CSIC ORCID; Gougeard, Nadine CSIC ORCID; Heredia, Miguel CSIC; Llácer, José Luis CSIC ORCID ; Marco-Marín, Clara CSIC ORCID; Marina, Alberto CSIC ORCID ; Mollá, Belén CSIC ORCID; Moreno-Estellés, Mireia CSIC ORCID; Pérez-Jiménez, Eva CSIC ORCID; Rubio, Vicente CSIC ORCID ; Sanz, Pascual CSIC ORCID ; Cortés-Rodríguez, Ana; Navas, Plácido CSIC ORCID; Sánchez Cuesta, Ana María; Santos-Ocaña, Carlos CSIC ORCID ; Fraga, Mario F. CSIC ORCID; Nieto, M. Ángela CSIC ORCID | artículo de revisión |
| openAccess |  | mar-2019 | Expanding the clinical and mutational spectrum of germline ABL1 mutations-associated syndrome. A case report | Bravo-Gil, Nereida CSIC; Marcos Luque, Irene CSIC; González-Meneses, Antonio; Antiñolo, Guillermo CSIC ORCID; Borrego, Salud CSIC ORCID | artículo |
| closedAccess |  | jun-2023 | Genetic profile in patients with complicated acute aortic syndrome: the GEN-AOR study | Puppo-Moreno, Antonio; Bravo-Gil, Nereida CSIC; Méndez-Vidal, Cristina CSIC ORCID; Adsuar-Gómez, Alejandro; Gómez Ruiz, Tadeo F.; Jiménez De Juan, Carlos; Fernández García, Raquel M.; Martín-Bermúdez, Rafael; López Sánchez, José María CSIC ORCID; Martín Sastre, Sara; Fernández Caro, Manuel; Gallego, Pastora; Borrego, Salud CSIC ORCID | artículo |
| openAccess | | 1-may-2023 | Identification of Novel Candidate Genes for Familial Thyroid Cancer by Whole Exome Sequencing | Tous, Cristina CSIC ORCID; Muñoz-Redondo, Carmen; Bravo-Gil, Nereida CSIC; Gavilán, Ángela; Fernández, Raquel M. CSIC ORCID; Antiñolo, Juan; Navarro González, Elena CSIC ORCID; Antiñolo, Guillermo CSIC ORCID; Borrego, Salud CSIC ORCID | artículo |
| openAccess |  | 1-abr-2016 | Improving the management of Inherited Retinal Dystrophies by targeted sequencing of a population-specific gene panel | Bravo-Gil, Nereida CSIC; Méndez-Vidal, Cristina CSIC ORCID; Romero-Pérez, Laura CSIC ORCID; González del Pozo, María CSIC ORCID; Rodríguez-de-la-Rúa-Franch, Enrique; Dopazo, Joaquín CSIC ORCID; Borrego, Salud CSIC ORCID; Antiñolo, Guillermo CSIC ORCID | artículo |
| openAccess |  | 6-sep-2018 | Searching the second hit in patients with inherited retinal dystrophies and monoallelic variants in ABCA4, USH2A and CEP290 by whole-gene targeted sequencing | González del Pozo, María CSIC ORCID; Martín-Sánchez, Marta CSIC ORCID; Bravo-Gil, Nereida CSIC; Méndez-Vidal, Cristina CSIC ORCID; Chimenea, Ángel CSIC ORCID; Rodríguez-de-la-Rúa-Franch, Enrique; Borrego, Salud CSIC ORCID; Antiñolo, Guillermo CSIC ORCID | artículo |
| openAccess |  | 12-feb-2020 | Unmasking Retinitis Pigmentosa complex cases by a whole genome sequencing algorithm based on open-access tools: hidden recessive inheritance and potential oligogenic variants | González del Pozo, María CSIC ORCID; Fernández-Suárez, Elena CSIC ORCID; Martín-Sánchez, Marta CSIC ORCID; Bravo-Gil, Nereida CSIC; Méndez-Vidal, Cristina CSIC ORCID; Rodríguez-de-la-Rúa-Franch, Enrique; Borrego, Salud CSIC ORCID; Antiñolo, Guillermo CSIC ORCID | artículo |
| openAccess |  | 3-feb-2017 | Unravelling the genetic basis of simplex Retinitis Pigmentosa cases | Bravo-Gil, Nereida CSIC; González del Pozo, María CSIC ORCID; Martín-Sánchez, Marta CSIC ORCID; Méndez-Vidal, Cristina CSIC ORCID; Rodríguez-de-la-Rúa-Franch, Enrique; Borrego, Salud CSIC ORCID; Antiñolo, Guillermo CSIC ORCID | artículo |
