Concepedia

Berta Luzón‐Toro

BL

11

Publications

342

Citations

10

H-Index

2011

Active since

Affiliations

Instituto de Biomedicina de Sevilla(Current)

Universidad de Sevilla

Centre for Biomedical Network Research on Rare Diseases

Hospital Universitario Virgen del Rocío

Assistance Publique – Hôpitaux de Paris

Berta Luzón‐Toro is an author at Instituto de Biomedicina de Sevilla specializing in genetics, medicine, and gene expression.

Top concepts

GeneticsMedicineCell BiologyGene ExpressionMolecular GeneticsDevelopmental BiologyPathologyPathogenesisFunctional GenomicsGenomics

Publications per year

2011–2020

11

Publications

11

Whole exome sequencing coupled with unbiased functional analysis reveals new Hirschsprung disease genes

Hongsheng Gui, Duco Schriemer, William Cheng et al. · Genome biology · 2017 · 91 citations · Full text

Comprehensive Analysis of NRG1 Common and Rare Variants in Hirschsprung Patients

Berta Luzón‐Toro, Ana Torroglosa, Rocío Núñez‐Torres et al. · PLoS ONE · 2012 · 38 citations · Full text

Genetics, Pathology, Gene Characterization +16

Novel mutations at RET ligand genes preventing receptor activation are associated to Hirschsprung’s disease

Macarena Ruiz‐Ferrer, Ana Torroglosa, Berta Luzón‐Toro et al. · Journal of Molecular Medicine · 2011 · 38 citations

Gene Therapies, Systems Biology, Signal Transduction +10

Mutational Spectrum of Semaphorin 3A and Semaphorin 3D Genes in Spanish Hirschsprung patients

Berta Luzón‐Toro, Raquel M. Fernández, Ana Torroglosa et al. · PLoS ONE · 2013 · 36 citations · Full text

Genetics, Gene Characterization, Molecular Genetics +17

Exome sequencing reveals a high genetic heterogeneity on familial Hirschsprung disease

Berta Luzón‐Toro, Hongsheng Gui, Macarena Ruiz‐Ferrer et al. · Scientific Reports · 2015 · 33 citations · Full text

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