A continuación se encuentran algunas de las mejores publicaciones del grupo RARE.EYE-FJD en los últimos años.


2020

1. Lukovic D, Artero Castro A, Kaya KD, Munezero D, Gieser L, Davó-Martínez C, Corton M, Cuenca N, Swaroop A, Ramamurthy V, Ayuso C, Erceg S. Retinal Organoids derived from hiPSCs of an AIPL1-LCA Patient Maintain Cytoarchitecture despite Reduced levels of Mutant AIPL1. Sci Rep. 2020 Mar 25;10(1):5426. doi: 10.1038/s41598-020-62047-2.

PMID: 32214115

IF(2018): 4,011 5-Year Impact Factor (2018): 4,525 Q1 (15:69) Multidisciplinary Sciences.

https://www.ncbi.nlm.nih.gov/pubmed/?term=32214115Este enlace se abrirá en una ventana nueva


2. García-García G, Sanchez-Navarro I, Aller E, Jaijo T, Fuster-Garcia C, Rodríguez-Munoz A, Vallejo E, Tellería JJ, Vázquez S, Beltrán S, Derdak S, Zurita O, Villaverde-Montero C, Avila-Fernández A, Corton M, Blanco-Kelly F, Hakonarson H, Millán JM, Ayuso C. Exome sequencing identifies PEX6 mutations in three cases diagnosed with Retinitis Pigmentosa and hearing impairment. Mol Vis. 2020 Mar 18;26:216-225. eCollection 2020.

PMID:32214787

IF(2018): 2,174 5-Year Impact Factor (2018): 2,257 Q2 (28:60) Ophtalmology.

https://www.ncbi.nlm.nih.gov/pubmed/?term=32214787Este enlace se abrirá en una ventana nueva


2019

3. Martin-Merida I; Avila-Fernandez A, del Pozo-Valero M, Blanco-Kelly F, Zurita O, Perez-Carro R, Aguilera-Garcia D, Riveiro-Alvarez R, Arteche A; Trujillo-Tiebas MJ, Tahsin-Swafiri S, Rodriguez-Pinilla E, Lorda-Sanchez I, Garcia-Sandoval B, Corton M, Ayuso C. Genomic landscape of sporadic retinitis pigmentosa: findings from 877 Spanish cases. Ophthalmology. Epub 19 Mar 2019. pii: S0161-6420(18)33392-X. doi: 10.1016/j.ophtha.2019.03.018.

PMID: 30902645

IF(2018): 7,732 5-Year Impact Factor (2018): 7,840 Q1 D1 (3:59) Ophtalmology

https://doi.org/10.1016/j.ophtha.2019.03.018Este enlace se abrirá en una ventana nueva


4. del Pozo-Valero M; Martin-Merida I; Jiménez Rolando B; Blanco-Kelly F; Arteche A; Avila-Fernandez A; Riveiro-Alvárez R; de-Baere E; Rivolta C; Garcia-Sandoval B; Corton M*; Ayuso C*. Expanded phenotypic spectrum of retinopathies associated with autosomal recessive and dominant mutations in PROM1. Am J Ophthalmol. 2019 May 23. pii: S0002-9394(19)30244-2. doi: 10.1016/j.ajo.2019.05.014.

PMID: 31129250 ISSN: 2090-004X

IF(2018): 4,483 5-Year Impact Factor (2018): 4,602 Q1 D1 (6:59) Ophtalmology

https://www.ncbi.nlm.nih.gov/pubmed/?term=31129250Este enlace se abrirá en una ventana nueva


5. Dal-Ré, R. et Ayuso, C. Reasons for and time to retraction of genetics articles published between 1970 and 2018. J Med Genet. 2019. 56:734–740. doi:10.1136/jmedgenet-2019-106137

PMID: 31300549

IF(2018): 5,899 5-Year Impact Factor (2018): 5,928 Q (2017) Q1 (18:171) Genetics & Heredity

https://jmg.bmj.com/content/56/11/734Este enlace se abrirá en una ventana nueva


2018

6. Sánchez Navarro I, et al. Combining targeret 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

https://www.ncbi.nlm.nih.gov/pubmed/29588463Este enlace se abrirá en una ventana nueva


7. Martin-Mérida I, et al. Towards 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. ISSN: 0146-0404

PMID:29847639

https://www.ncbi.nlm.nih.gov/pubmed/29847639Este enlace se abrirá en una ventana nueva


8. Pérez-Carro R, et al. Unravelling the pathogenic role and genotype-phenotype correlation of the USH2A p.(Cys759Phe) variant among Spanish families. PLOS ONE. 2018 Jun 18;13(6):e0199048. doi: 10.1371/journal.pone.0199048. eCollection 2018

PMID:29912909

https://www.ncbi.nlm.nih.gov/pubmed/29912909Este enlace se abrirá en una ventana nueva