Combining targeted panel-based resequencing and copy-number variation analysis for the diagnosis of inherited syndromic retinopathies and associated ciliopathies-Reference-Cited by-同舟云学术

Combining targeted panel-based resequencing and copy-number variation analysis for the diagnosis of inherited syndromic retinopathies and associated ciliopathies

Published:2018-03-27 Issue:1 Volume:8 Page:
ISSN:2045-2322
Container-title:Scientific Reports
language:en
Short-container-title:Sci Rep

Author:

Sanchez-Navarro Iker,R. J. da Silva Luciana,Blanco-Kelly Fiona,Zurita Olga,Sanchez-Bolivar Noelia,Villaverde Cristina,Lopez-Molina Maria Isabel,Garcia-Sandoval Blanca,Tahsin-Swafiri Saoud,Minguez Pablo,Riveiro-Alvarez Rosa,Lorda Isabel,Sanchez-Alcudia Rocío,Perez-Carro Raquel,Valverde Diana,Liu Yichuan,Tian Lifeng,Hakonarson Hakon,Avila-Fernandez Almudena,Corton Marta,Ayuso Carmen

Publisher

Springer Science and Business Media LLC

Subject

Multidisciplinary

Link

http://www.nature.com/articles/s41598-018-23520-1.pdf

Reference62 articles.

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3. Gazzo, A. M. et al. DIDA: A curated and annotated digenic diseases database. Nucleic Acids Res 44(D1), D900 (2015).

4. May-Simera, H., Nagel-Wolfrum, K. & Wolfrum, U. Cilia - The sensory antennae in the eye. Prog Retin Eye Res (2017).

5. Marshall, J. D., Maffei, P., Collin, G. B. & Naggert, J. K. Alstrom syndrome: genetics and clinical overview. Curr Genomics 12(3), 225 (2011).

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