SELECCIÓN DE LAS 10 MEJORES PUBLICACIONES EN LOS ÚLTIMOS 5 AÑOS:

2014

1: Dal-Ré R et al. Managing incidental genomic findings in clinical trials: fulfillment of the principle of justice in human subjects research. PLoS Medicine. 2014 Jan 11;1: e1001584.

PMID: 24453945

IF(2014): 14,429 Q(2014) Q1 D1 (7:154) Medicine, general & internal

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3891615/Este enlace se abrirá en una ventana nueva

2015

2: Blanco-Kelly F, et al. Clinical aspects of Usher Syndrome and USH2A gene: in a cohort of 433 patients. JAMA Ophthalmol. 2015 Feb; 133(2): 157-64. doi: 10.1001/jamaophthalmol.2014.4498.

PMID: 25375654

IF(2015): 4,340 Q(2015) Q1 D1 (4:56) Ophthalmology

https://www.ncbi.nlm.nih.gov/pubmed/25375654Este enlace se abrirá en una ventana nueva


3: Riveiro-Álvarez R, et al. New mutations in the RAB28 Gene in 2 Spanish families with cone-rod dystrophy. JAMA Ophthalmol. 2015 Feb;133(2):133-9. doi: 10.1001/jamaophthalmol.2014.4266.

PMID: 25356532

IF(2015): 4,340 Q(2015) Q1 D1 (4:56) Ophthalmology

https://www.ncbi.nlm.nih.gov/pubmed/25356532Este enlace se abrirá en una ventana nueva


4: Ávila-Fernández A, et al. Whole-exome sequencing reveals ZNF408 as a new gene associated with autosomal recessive retinitis pigmentosa with vitreal alterations. Hum Mol Gen 2015 Jul 15;24(14):4037-48 doi: 10.1093/hmg/ddv140.

PMID: 25882705

IF(2015): 5,985 Q(2015) Q1 D1 (16:165) Genetics and heredity

https://www.ncbi.nlm.nih.gov/pubmed/25882705Este enlace se abrirá en una ventana nueva


5: Almoguera B, et al. Application of whole exome sequencing in six families with an initial diagnosis of autosomal dominant retinitis pigmentosa: lessons learned. PLoS One. 2015 Jul 21;10(7):e0133624. doi: 10.1371/journal.pone.0133624. eCollection 2015

PMID: 26197217

IF(2015): 3,057 Q(2015) Q1 (11:63) Multidisciplinary Sciences

https://www.ncbi.nlm.nih.gov/pubmed/26197217Este enlace se abrirá en una ventana nueva


6: Perez-Carro R, et al. Panel-based NGS Reveals Novel Pathogenic Mutations in Autosomal Recessive Retinitis Pigmentosa. Sci Rep. 2016 Jan 25;6: 19531. doi: 10.1038/srep19531

PMID: 27102970

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4840370/Este enlace se abrirá en una ventana nueva


7: Corton M, et al. Identification of the Photoreceptor Transcriptional Co-Repressor SAMD11 as Novel Cause of Autosomal Recessive Retinitis Pigmentosa. Sci Rep. 2016 Oct 13; 6:35370. doi: 10.1038/srep35370.

PMID: 27734943

https://www.ncbi.nlm.nih.gov/pubmed/27734943Este enlace se abrirá en una ventana nueva

2018

8: 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


9: 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


10: 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