Concepedia

Esther Martín-Garrido

EM

Statistics

Publications

4

Citations

166

H-Index

4

Active since

2013

Affiliations

Centre for Biomedical Network Research on Rare Diseases(Current)

Hospital Universitario Fundación Jiménez Díaz

Radboud University Medical Center

Radboud University Nijmegen

Universidade de Mogi das Cruzes

Esther Martín-Garrido is an author at Centre for Biomedical Network Research on Rare Diseases specializing in genetics, molecular genetics, and ocular genetics.

Publications per year

2013–2016

4

Publications

4

Exome Sequencing Extends the Phenotypic Spectrum for ABHD12 Mutations

Koji M. Nishiguchi, Almudena Ávila‐Fernández, Ramon A. C. van Huet et al. · Ophthalmology · 2014 · 55 citations

, , +14

Whole-exome sequencing reveals ZNF408 as a new gene associated with autosomal recessive retinitis pigmentosa with vitreal alterations

Almudena Ávila‐Fernández, Raquel Pérez-Carro, Marta Cortón et al. · Human Molecular Genetics · 2015 · 51 citations · Full text

, , +17

Identification of the Photoreceptor Transcriptional Co-Repressor SAMD11 as Novel Cause of Autosomal Recessive Retinitis Pigmentosa

Marta Cortón, Laura Campello, Mayka Sánchez et al. · Scientific Reports · 2016 · 35 citations · Full text

, , +17

Involvement of LCA5 in Leber Congenital Amaurosis and Retinitis Pigmentosa in the Spanish Population

Marta Cortón, Almudena Ávila‐Fernández, Elena Vallespín et al. · Ophthalmology · 2013 · 25 citations · Full text

, , +9

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