C. Sánchez-Jimeno

Statistics

Publications

Citations

354

H-Index

Active since

2010

Affiliations

Centre for Biomedical Network Research on Rare Diseases(Current)

Hospital Universitario Fundación Jiménez Díaz

Centro de Investigaciones Energéticas, Medioambientales y Tecnológicas

Instituto de Salud Carlos III

Hospital Infantil Universitario Niño Jesús

C. Sánchez-Jimeno is an author at Centre for Biomedical Network Research on Rare Diseases specializing in medical genetics, genetic disorders, and genetics.

Publications per year

2010–2021

Publications

Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications

Irene Perea‐Romero, Gema Gordo, Ionut-Florin Iancu et al. · Scientific Reports · 2021 · 160 citations · Full text

Life Sciences, Genetics, Ophthalmology +16

The first <i>COL7A1</i> mutation survey in a large Spanish dystrophic epidermolysis bullosa cohort: c.6527insC disclosed as an unusually recurrent mutation

M.J. Escámez, Marta García, Natividad Cuadrado‐Corrales et al. · British Journal of Dermatology · 2010 · 61 citations

Medicine, Genetics, Molecular Genetics +16

Comparison of the diagnostic yield of aCGH and genome-wide sequencing across different neurodevelopmental disorders

Francisco Martínez‐Granero, Fiona Blanco‐Kelly, C. Sánchez-Jimeno et al. · npj Genomic Medicine · 2021 · 58 citations · Full text

Medicine, Molecular Genetics, Pediatrics +17

Two novel recessive mutations in KRT14 identified in a cohort of 21 Spanish families with epidermolysis bullosa simplex

Marta García, J.L. Santiago, Anna Terrón et al. · British Journal of Dermatology · 2011 · 29 citations

Medicine, Dermatology, Genetics +13

A prevalent mutation with founder effect in Spanish Recessive Dystrophic Epidermolysis Bullosa families

Natividad Cuadrado‐Corrales, C. Sánchez-Jimeno, Marta García et al. · BMC Medical Genetics · 2010 · 23 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

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