Concepedia

Elena Vallespín

EV

41

Publications

2K

Citations

25

H-Index

2007

Active since

Affiliations

Centre for Biomedical Network Research on Rare Diseases(Current)

Hospital Universitario La Paz

Universidad Autónoma de Madrid

Instituto de Salud Carlos III

Hospital Universitario Fundación Jiménez Díaz

Elena Vallespín is an author at Centre for Biomedical Network Research on Rare Diseases specializing in medicine, genetics, and molecular genetics.

ORCID

Top concepts

Publications per year

2007–2022

41

Publications

41

PROREPAIR-B: A Prospective Cohort Study of the Impact of Germline DNA Repair Mutations on the Outcomes of Patients With Metastatic Castration-Resistant Prostate Cancer

Elena Castro, Nuria Romero-Laorden, Ángela del Pozo et al. · Journal of Clinical Oncology · 2019 · 366 citations · Full text

AHI1 is required for photoreceptor outer segment development and is a modifier for retinal degeneration in nephronophthisis

Carrie M Louie, Gianluca Caridi, Vanda S. Lopes et al. · Nature Genetics · 2010 · 188 citations · Full text

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Somatic activating mutations in <i>PIK3CA</i> cause generalized lymphatic anomaly

Lara Rodríguez‐Laguna, Noelia Agrá, Kristina Ibáñez et al. · The Journal of Experimental Medicine · 2018 · 140 citations · Full text

Mutation analysis of 272 Spanish families affected by autosomal recessive retinitis pigmentosa using a genotyping microarray.

Almudena Ávila‐Fernández, Diego Cantalapiedra, Elena Aller et al. · PubMed · 2010 · 105 citations · Full text

Mutation Screening of 299 Spanish Families with Retinal Dystrophies by Leber Congenital Amaurosis Genotyping Microarray

Elena Vallespín, Diego Cantalapiedra, Rosa Riveiro-Álvarez et al. · Investigative Ophthalmology & Visual Science · 2007 · 85 citations

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