A. Segarra-Casas

Enhancers with tissue-specific activity are enriched in intronic regions

R. Guigó, J. Bertranpetit, Sílvia Pérez-Lluch, 2021, Genome research.

Intronic enhancers regulate the expression of genes involved in tissue-specific functions and homeostasis

R. Guigó, J. Bertranpetit, H. Laayouni, 2020, bioRxiv.

Genetic diagnosis of Duchenne and Becker muscular dystrophy through mRNA analysis: new splicing events

C. Ortez, E. Rivas, A. Hernández-Laín, 2022, Journal of Medical Genetics.

A new homozygous missense variant in LMOD3 gene causing mild nemaline myopathy with prominent facial weakness

E. Gallardo, J. Díaz-Manera, M. Olivé, 2023, Neuromuscular Disorders.

Distal myopathy due to digenic inheritance of TIA1 and SQSTM1 variants in two unrelated Spanish patients

A. Hernández-Laín, C. Domínguez-González, L. Gonzalez-Quereda, 2023, Neuromuscular Disorders.

An Integrated Transcriptomics and Genomics Approach Detects an X/Autosome Translocation in a Female with Duchenne Muscular Dystrophy

Vicente A. Yépez, G. Demidov, A. Töpf, 2024, International journal of molecular sciences.