Unravelling the pathogenic role and genotype-phenotype correlation of the USH2A p.(Cys759Phe) variant among Spanish families

Raquel Pérez-Carro; Fiona Blanco-Kelly; Lilián Galbis-Martínez; Gema García-García; Elena Aller; Blanca García-Sandoval; Pablo Mínguez; Marta Corton; Ignacio Mahíllo-Fernández; Inmaculada Martín-Mérida; Almudena Avila-Fernández; José M. Millán; Carmen Ayuso

doi:10.1371/journal.pone.0199048

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Open Access

Peer-reviewed

Research Article

Unravelling the pathogenic role and genotype-phenotype correlation of the USH2A p.(Cys759Phe) variant among Spanish families

Raquel Pérez-Carro ,

Contributed equally to this work with: Raquel Pérez-Carro, Fiona Blanco-Kelly, Lilián Galbis-Martínez

Roles Conceptualization, Formal analysis, Investigation, Writing – original draft, Writing – review & editing

Affiliation Department of Genetics, Instituto de Investigación Sanitaria–Fundación Jimenez Diaz University Hospital-Universidad Autónoma de Madrid (IIS-FJD, UAM), Madrid, Spain
⨯
Fiona Blanco-Kelly ,

Contributed equally to this work with: Raquel Pérez-Carro, Fiona Blanco-Kelly, Lilián Galbis-Martínez

Roles Conceptualization, Formal analysis, Investigation, Writing – original draft, Writing – review & editing

Affiliations Department of Genetics, Instituto de Investigación Sanitaria–Fundación Jimenez Diaz University Hospital-Universidad Autónoma de Madrid (IIS-FJD, UAM), Madrid, Spain, Center for Biomedical Network Research on Rare Diseases (CIBERER), ISCIII, Madrid, Spain
⨯
Lilián Galbis-Martínez ,

Contributed equally to this work with: Raquel Pérez-Carro, Fiona Blanco-Kelly, Lilián Galbis-Martínez

Roles Conceptualization, Formal analysis, Investigation, Visualization, Writing – review & editing

Affiliation Department of Genetics, Instituto de Investigación Sanitaria–Fundación Jimenez Diaz University Hospital-Universidad Autónoma de Madrid (IIS-FJD, UAM), Madrid, Spain
⨯
Gema García-García,

Roles Formal analysis, Investigation, Writing – review & editing

Affiliations Center for Biomedical Network Research on Rare Diseases (CIBERER), ISCIII, Madrid, Spain, Research group on Molecular, Cellular and Genomic Biomedicine, Health Research Institute La Fe (IIS La Fe), Valencia, Spain
⨯
Elena Aller,

Roles Investigation, Writing – review & editing

Affiliations Center for Biomedical Network Research on Rare Diseases (CIBERER), ISCIII, Madrid, Spain, Research group on Molecular, Cellular and Genomic Biomedicine, Health Research Institute La Fe (IIS La Fe), Valencia, Spain
⨯
Blanca García-Sandoval,

Roles Formal analysis, Investigation

Affiliations Center for Biomedical Network Research on Rare Diseases (CIBERER), ISCIII, Madrid, Spain, Department of Ophthalmology, Instituto de Investigación Sanitaria–Fundación Jimenez Diaz University Hospital–Universidad Autónoma de Madrid (IIS-FJD, UAM), Madrid, Spain
⨯
Pablo Mínguez,

Roles Formal analysis, Software, Writing – review & editing

Affiliation Department of Genetics, Instituto de Investigación Sanitaria–Fundación Jimenez Diaz University Hospital-Universidad Autónoma de Madrid (IIS-FJD, UAM), Madrid, Spain
⨯
Marta Corton,

Roles Writing – review & editing

Affiliations Department of Genetics, Instituto de Investigación Sanitaria–Fundación Jimenez Diaz University Hospital-Universidad Autónoma de Madrid (IIS-FJD, UAM), Madrid, Spain, Center for Biomedical Network Research on Rare Diseases (CIBERER), ISCIII, Madrid, Spain

http://orcid.org/0000-0003-0087-1626

⨯
Ignacio Mahíllo-Fernández,

Roles Writing – review & editing

Affiliation Department of Epidemiology and Biostatistics, Instituto de Investigación Sanitaria-Fundación Jimenez Diaz-Universidad Autónoma de Madrid (IIS-FJD, UAM), Madrid, Spain
⨯
Inmaculada Martín-Mérida,

Roles Writing – review & editing

Affiliations Department of Genetics, Instituto de Investigación Sanitaria–Fundación Jimenez Diaz University Hospital-Universidad Autónoma de Madrid (IIS-FJD, UAM), Madrid, Spain, Center for Biomedical Network Research on Rare Diseases (CIBERER), ISCIII, Madrid, Spain
⨯
Almudena Avila-Fernández,

Roles Formal analysis, Investigation, Writing – review & editing

Affiliations Department of Genetics, Instituto de Investigación Sanitaria–Fundación Jimenez Diaz University Hospital-Universidad Autónoma de Madrid (IIS-FJD, UAM), Madrid, Spain, Center for Biomedical Network Research on Rare Diseases (CIBERER), ISCIII, Madrid, Spain
⨯
José M. Millán,

Roles Investigation, Writing – review & editing

Affiliations Center for Biomedical Network Research on Rare Diseases (CIBERER), ISCIII, Madrid, Spain, Research group on Molecular, Cellular and Genomic Biomedicine, Health Research Institute La Fe (IIS La Fe), Valencia, Spain
⨯
Carmen Ayuso

Roles Conceptualization, Funding acquisition, Investigation, Supervision, Writing – review & editing

* E-mail: cayuso@fjd.es

Affiliations Department of Genetics, Instituto de Investigación Sanitaria–Fundación Jimenez Diaz University Hospital-Universidad Autónoma de Madrid (IIS-FJD, UAM), Madrid, Spain, Center for Biomedical Network Research on Rare Diseases (CIBERER), ISCIII, Madrid, Spain

http://orcid.org/0000-0002-9242-7065

⨯

Unravelling the pathogenic role and genotype-phenotype correlation of the USH2A p.(Cys759Phe) variant among Spanish families

Raquel Pérez-Carro,
Fiona Blanco-Kelly,
Lilián Galbis-Martínez,
Gema García-García,
Elena Aller,
Blanca García-Sandoval,
Pablo Mínguez,
Marta Corton,
Ignacio Mahíllo-Fernández,
Inmaculada Martín-Mérida

Published: June 18, 2018
https://doi.org/10.1371/journal.pone.0199048

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