Estudios de prevalencia de las ER en estudio
"RAREGenomics: Una red para el estudio de enfermedades raras neurológicas en la Comunidad de Madrid"+
Se ha presentado un póster titulado "RAREGenomics: Una red para el estudio de enfermedades raras neurológicas en la Comunidad de Madrid" en el II Congreso Nacional de Genética Humana y en el Congreso Anual del CIBERER.
Para descargar el póster pinchar en el siguiente enlace: Póster resultados RAREGenomics (985.9 KB) (1 página)
Publicaciones+
I Perea-Romero, F Blanco-Kelly, I Sanchez-Navarro, I Lorda-Sanchez, S Tahsin-Swafiri, A Avila-Fernandez, I Martin-Merida, M J Trujillo-Tiebas, R Lopez-Rodriguez, M Rodriguez de Alba, I F Iancu, R Romero, M Quinodoz, H Hakonarson, Blanca Garcia-Sandoval, P Minguez, M Corton, C Rivolta, C Ayuso. NGS and phenotypic ontology-based approaches increase the diagnostic yield in syndromic retinal diseases. Hum Genet. 2021 Aug 26. doi: 10.1007/s00439-021-02343-7. Online ahead of print. PMID: 34448047
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F Blanco-Kelly, M Tarilonte, M Villamar, A Damián, A Tamayo, M A Moreno-Pelayo, C Ayuso, M Cortón. Genetics and epidemiology of aniridia: Updated guidelines for genetic study. Review Arch Soc Esp Oftalmol. 2021 Jul 6;S0365-6691(21)00124-6. doi: 10.1016/j.oftal.2021.02.002. Online ahead of print. PMID: 34243981.
Irene Perea-Romero, Gema Gordo, Ionut F Iancu, Marta Del Pozo-Valero, Berta Almoguera, Fiona Blanco-Kelly, Ester Carreño, Belen Jimenez-Rolando, Rosario Lopez-Rodriguez, Isabel Lorda-Sanchez, Inmaculada Martin-Merida, Lucia Pérez de Ayala, Rosa Riveiro-Alvarez, Elvira Rodriguez-Pinilla, Saoud Tahsin-Swafiri, Maria J Trujillo-Tiebas, ESRETNET Study Group; ERDC Study Group; Associated Clinical Study Group; Blanca Garcia-Sandoval, Pablo Minguez, Almudena Avila-Fernandez, Marta Corton, Carmen Ayuso. Author Correction: Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications. Published Erratum Sci Rep. 2021 May 10;11(1):10340. doi: 10.1038/s41598-021-89275-4. PMID: 33972629 PMCID: PMC8110971.
Maria Tarilonte, Patricia Ramos, Jennifer Moya, Guilermo Fernandez-Sanz, Fiona Blanco-Kelly, Saoud Tahsin Swafiri, Cristina Villaverde, Raquel Romero, Alejandra Tamayo, Blanca Gener, Patrick Calvas, Carmen Ayuso, Marta Corton. Activation of cryptic donor splice sites by non-coding and coding PAX6 variants contributes to congenital aniridia. J Med Genet. 2021 Mar 29;jmedgenet-2020-106932. doi: 10.1136/jmedgenet-2020-106932. Online ahead of print. PMID: 33782094.
Brais Bea-Mascato, Carlos Solarat, Irene Perea-Romero, Teresa Jaijo, Fiona Blanco-Kelly, José M Millán, Carmen Ayuso, Diana Valverde. Prevalent ALMS1 Pathogenic Variants in Spanish Alström Patients. Genes (Basel). 2021 Feb 16;12(2):282. doi: 10.3390/genes12020282. PMID: 33669459 PMCID: PMC7920446.
Lilián Galbis-Martínez, Fiona Blanco-Kelly, Gema García-García, Almudena Ávila-Fernández, Teresa Jaijo, Carla Fuster-García, Irene Perea-Romero, Olga Zurita-Muñoz, Belén Jimenez-Rolando, Ester Carreño, Blanca García-Sandoval, José M Millán, Carmen Ayuso. Genotype-phenotype correlation in patients with Usher syndrome and pathogenic variants in MYO7A: implications for future clinical trials. Acta Ophthalmol. 2021 Feb 11. doi: 10.1111/aos.14795. Online ahead of print. PMID: 33576163.
Neruban Kumaran, Michalis Georgiou, James W B Bainbridge, Mette Bertelsen, Michael Larsen, Fiona Blanco-Kelly, Carmen Ayuso, Hoai Viet Tran, Francis L Munier, Angelos Kalitzeos, Michel Michaelides. Retinal Structure in RPE65-Associated Retinal Dystrophy. Invest Ophthalmol Vis Sci. 2020 Apr 9;61(4):47. doi: 10.1167/iovs.61.4.47. PMID: 32347917 PMCID: PMC7401957.
Mubeen Khan, Stéphanie S Cornelis, Marta Del Pozo-Valero, Laura Whelan, Esmee H Runhart, Ketan Mishra, Femke Bults, Yahya AlSwaiti, Alaa AlTalbishi, Elfride De Baere, Sandro Banfi, Eyal Banin, Miriam Bauwens, Tamar Ben-Yosef, Camiel J F Boon, L Ingeborgh van den Born, Sabine Defoort, Aurore Devos, Adrian Dockery, Lubica Dudakova, Ana Fakin, G Jane Farrar, Juliana Maria Ferraz Sallum, Kaoru Fujinami, Christian Gilissen, Damjan Glavač, Michael B Gorin, Jacquie Greenberg, Takaaki Hayashi, Ymkje M Hettinga, Alexander Hoischen, Carel B Hoyng, Karsten Hufendiek, Herbert Jägle, Smaragda Kamakari, Marianthi Karali, Ulrich Kellner, Caroline C W Klaver, Bohdan Kousal, Tina M Lamey, Ian M MacDonald, Anna Matynia, Terri L McLaren, Marcela D Mena, Isabelle Meunier, Rianne Miller, Hadas Newman, Buhle Ntozini, Monika Oldak, Marc Pieterse, Osvaldo L Podhajcer, Bernard Puech, Raj Ramesar, Klaus Rüther, Manar Salameh, Mariana Vallim Salles, Dror Sharon, Francesca Simonelli, Georg Spital, Marloes Steehouwer, Jacek P Szaflik, Jennifer A Thompson, Caroline Thuillier, Anna M Tracewska, Martine van Zweeden, Andrea L Vincent, Xavier Zanlonghi, Petra Liskova, Heidi Stöhr, John N De Roach, Carmen Ayuso, Lisa Roberts, Bernhard H F Weber, Claire-Marie Dhaenens, Frans P M Cremers. Resolving the dark matter of ABCA4 for 1054 Stargardt disease probands through integrated genomics and transcriptomics. Genet Med. 2020 Jul;22(7):1235-1246. doi: 10.1038/s41436-020-0787-4. Epub 2020 Apr 20. PMID: 32307445.
Marta Del Pozo-Valero, Rosa Riveiro-Alvarez, Fiona Blanco-Kelly, Jana Aguirre-Lamban, Inmaculada Martin-Merida, Ionut-Florin Iancu, Saoud Swafiri, Isabel Lorda-Sanchez, Elvira Rodriguez-Pinilla, Maria José Trujillo-Tiebas, Belen Jimenez-Rolando, Ester Carreño, Ignacio Mahillo-Fernandez, Carlo Rivolta, Marta Corton, Almudena Avila-Fernandez, Blanca Garcia-Sandoval, Carmen Ayuso. Genotype-Phenotype Correlations in a Spanish Cohort of 506 Families With Biallelic ABCA4 Pathogenic Variants. Am J Ophthalmol. 2020 Nov;219:195-204. doi: 10.1016/j.ajo.2020.06.027. Epub 2020 Jun 30. PMID: 32619608.
Inmaculada Martin-Merida, Almudena Avila-Fernandez, Marta Del Pozo-Valero, Fiona Blanco-Kelly, Olga Zurita, Raquel Perez-Carro, Domingo Aguilera-Garcia, Rosa Riveiro-Alvarez, Ana Arteche, Maria Jose Trujillo-Tiebas, Saoud Tahsin-Swafiri, Elvira Rodriguez-Pinilla, Isabel Lorda-Sanchez, Blanca Garcia-Sandoval, Marta Corton, Carmen Ayuso. Genomic Landscape of Sporadic Retinitis Pigmentosa: Findings from 877 Spanish Cases. Ophthalmology. 2019 Aug;126(8):1181-1188. doi: 10.1016/j.ophtha.2019.03.018. Epub 2019 Mar 20. PMID: 30902645.
María Tarilonte, Matías Morín, Patricia Ramos, Marta Galdós, Fiona Blanco-Kelly, Cristina Villaverde, Dolores Rey-Zamora, Gema Rebolleda, Francisco J Muñoz-Negrete, Saoud Tahsin-Swafiri, Blanca Gener, Miguel-Angel Moreno-Pelayo, Carmen Ayuso, Manuela Villamar, Marta Corton. Parental Mosaicism in PAX6 Causes Intra-Familial Variability: Implications for Genetic Counseling of Congenital Aniridia and Microphthalmia. Front Genet. 2018 Oct 17;9:479. doi: 10.3389/fgene.2018.00479. eCollection 2018. PMID: 30386378 PMCID: PMC6199369.
Julie Plaisancié, M Tarilonte, P Ramos, C Jeanton-Scaramouche, V Gaston, H Dollfus, D Aguilera, J Kaplan, L Fares-Taie, F Blanco-Kelly, C Villaverde, C Francannet, A Goldenberg, I Arroyo, J M Rozet, C Ayuso, N Chassaing, P Calvas, M Corton. Implication of non-coding PAX6 mutations in aniridia. Hum Genet. 2018 Oct;137(10):831-846. doi: 10.1007/s00439-018-1940-x. Epub 2018 Oct 5. PMID: 30291432.
Inmaculada Martin-Merida, Domingo Aguilera-Garcia, Jose P Fernandez-San, Fiona Blanco-Kelly, Olga Zurita, Berta Almoguera, Blanca Garcia-Sandoval, Almudena Avila-Fernandez, Ana Arteche, Pablo Minguez, Miguel Carballo, Marta Corton, Carmen Ayuso. Toward the Mutational Landscape of Autosomal Dominant Retinitis Pigmentosa: A Comprehensive Analysis of 258 Spanish Families. Invest Ophthalmol Vis Sci. 2018 May 1;59(6):2345-2354. doi: 10.1167/iovs.18-23854. PMID: 29847639.
Iker Sanchez-Navarro, Luciana R J da Silva, Fiona Blanco-Kelly, Olga Zurita, Noelia Sanchez-Bolivar, Cristina Villaverde, Maria Isabel Lopez-Molina, Blanca Garcia-Sandoval, Saoud Tahsin-Swafiri, Pablo Minguez, Rosa Riveiro-Alvarez, Isabel Lorda, Rocío Sanchez-Alcudia, Raquel Perez-Carro, Diana Valverde, Yichuan Liu, Lifeng Tian, Hakon Hakonarson, Almudena Avila-Fernandez, Marta Corton, Carmen Ayuso. Combining targeted panel-based resequencing and copy-number variation analysis for the diagnosis of inherited syndromic retinopathies and associated ciliopathies. Sci Rep. 2018 Mar 27;8(1):5285. doi: 10.1038/s41598-018-23520-1. PMID: 29588463 PMCID: PMC5869593.
Prevalencia del síndrome de PHELAN-MCDERMID en España. Gómez Taylor B, Moreno Sancho ML, Drehmer Rieger E, Carrera Julia S, Nevado J y Sempere Ferre F. Revista Española de Salud Pública R2.
