| Derechos | Preview | Fecha Public. | Título | Autor(es) | Tipo |
| closedAccess |  | 2020 | A six-attribute classification of genetic mosaicism | Martinez-Glez, Víctor; Tenorio, Jair; Nevado, Julian; Gordo, Gema; Rodriguez-Laguna, Lara; Feito, Marta; Lucas, Raúl de; Pérez-Jurado, Luis Alberto; Ruiz-Pérez, Victor L. CSIC ORCID; Torrelo, Antonio; Spinner, Nancy B.; Happle, Rudolf; Biesecker, Leslie G.; Lapunzina, Pablo | 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 |  | 26-ago-2020 | Circular DNA intermediates in the generation of large human segmental duplications | Chicote, Javier U.; López Sánchez, Marcos; Marqués-Bonet, Tomàs CSIC ORCID ; Callizo, José; Pérez-Jurado, Luis Alberto; García-España, Antonio | artículo |
| openAccess |  | 18-feb-2022 | Clonal chromosomal mosaicism and loss of chromosome Y in men are risk factors for SARS-CoV-2 vulnerability in the elderly | Pérez-Jurado, Luis Alberto; Cáceres, Alejandro; Esko, Tõnu; López de Heredia, Miguel; Quintela, Inés; Cruz, Raquel; Lapunzina, Pablo; Carracedo, Ángel; SCOURGE Cohort Group; González, Juan R.; Almeida, Julia CSIC ORCID CVN; Orfao, Alberto CSIC ORCID ; Bustos, Matilde CSIC ORCID | preprint |
| closedAccess |  | 2009 | Extending the phenotype of recurrent rearrangements of 16p11.2: Deletions in mentally retarded patients without autism and in normal individuals | Pérez-Jurado, Luis Alberto | artículo |
| closedAccess |  | dic-2022 | FOSL2 truncating variants in the last exon cause a neurodevelopmental disorder with scalp and enamel defects | Cospain, Auriane; Rivera-Barahona, Ana CSIC; Dumontet, Erwan; Gener, Blanca; Bailleul-Forestier, Isabelle; Meyts, Isabelle; Jouret, Guillaume; Isidor, Bertrand; Brewer, Carole; Wuyts, Wim; Moens, Leen; Delafontaine, Selket; Wing Keung Lam, Wayne; Van Den Bogaert, Kris; Boogaerts, Anneleen; Scalais, Emmanuel; Besnard, Thomas; Cogne, Benjamin; Guissard, Christophe; Rollier, Paul; Carre, Wilfrid; Bouvet, Regis; Tarte, Karin; Gómez Carmona, Ricardo CSIC; Lapunzina, Pablo; Odent, Sylvie; Faoucher, Marie; Dubourg, Christele; Ruiz-Pérez, Victor L. CSIC ORCID; Devriendt, Koen; Pasquier, Laurent; Pérez-Jurado, Luis Alberto | artículo |
| openAccess |  | 2019 | Genetic or other causation should not change the clinical diagnosis of cerebral palsy | MacLennan, Alastair H.; Lewis, Sara; Moreno-De-Luca, Andres; Fahey, Michael; Leventer, Richard J.; McIntyre, Sarah; Ben-Pazi, Hilla; Corbett, Mark; Wang, Xiaoyang; Baynam, Gareth; Fehlings, Darcy; Kurian, Manju A.; Zhu, Changlian; Himmelmann, Kate; Smithers-Sheedy, Hayley; Wilson, Yana; Santos-Ocaña, Carlos CSIC ORCID ; Eyk, Clare van; Badawi, Nadia; Wintle, Richard F.; Jacobsson, Bo; Amor, David J.; Mallard, Carina; Pérez-Jurado, Luis Alberto; Hallman, Mikko; Rosenbaum, Peter J.; Kruer, Michael C.; Gecz, Jozef | artículo |
| closedAccess |  | ago-2011 | Intermediate FMR1 alleles and cognitive and/or behavioural phenotypes | Madrigal, Irene; Xunclà, Mar; Tejada, María Isabel; Martínez, Francisco; Fernández Carvajal, M. Isabel CSIC; Pérez-Jurado, Luis Alberto; Rodríguez-Revenga, Laia; Milà, Montserrat | artículo |
| closedAccess |  | 2010 | Mosaic uniparental disomies and aneuploidies as large structural variants of the human genome | Rodríguez-Santiago, Benjamín; Malats, Núria; Rothman, Nathaniel; Armengol, Lluís; García-Closas, Montserrat; Kogevinas, Manolis; Villa, Olaya; Hutchinson, Amy; Earl, Julie; Marenne, Gaëlle; Jacobs, Kelly; Rico, Daniel CSIC ORCID; Tardón, Adonina; Carrato, Alfredo; Thomas, Gilles; Valencia, Alfonso; Silverman, Debra; Real, Francisco X.; Chanock, Stephen J.; Pérez-Jurado, Luis Alberto | artículo |
| closedAccess |  | 2016 | Next generation sequencing as second-tier test in newborn screening programs | Rodríguez, Jairo; Fernández Carvajal, M. Isabel CSIC; Alonso, Maria Jesús CSIC; Pérez-Jurado, Luis Alberto | póster de congreso |
| closedAccess |  | 4-jun-2020 | Polymorphic Inversions Underlie the Shared Genetic Susceptibility of Obesity-Related Diseases | González, Juan R.; Ruiz-Arenas, Carlos; Cáceres, Alejandro; Morán, Ignasi; López Sánchez, Marcos; Alonso, Lorena; Tolosana, Ignacio; Guindo-Martínez, M.; Mercader, Josep M.; Esko, Tonu; Torrents, David; González Pérez, Josefa CSIC ORCID ; Pérez-Jurado, Luis Alberto | artículo |
| openAccess |  | 2012 | Reduction of NADPH-oxidase activity ameliorates the cardiovascular phenotype in a mouse model of Williams-Beuren Syndrome | Campuzano, Victoria; Menacho-Márquez, Mauricio CSIC ORCID; Bustelo, Xosé R. CSIC ORCID ; Pérez-Jurado, Luis Alberto | artículo |
| closedAccess |  | 2017 | Secuenciación masiva como prueba de segundo nivel en programas de cribado neonatal | Segura‐Puimedon, María; Rodríguez, Jairo; Alonso, Maria Jesús CSIC; Fernández Carvajal, M. Isabel CSIC; Pérez-Jurado, Luis Alberto | comunicación de congreso |
| openAccess |  | 29-nov-2007 | X-chromosome tiling path array detection of copy number variants in patients with chromosome X-linked mental retardation | Madrigal, Irene; Rodríguez-Revenga, Laia; Sánchez, Ana; Martínez, Francisco; Fernández Carvajal, M. Isabel CSIC; Arranz, J. A.; Tejada, María Isabel; Pérez-Jurado, Luis Alberto; Estivill, Xavier CSIC; Milà, Montserrat | artículo |
