Marta Santamariña

Combined genetic and splicing analysis of BRCA1 c.[594-2A>C; 641A>G] highlights the relevance of naturally occurring in-frame transcripts for developing disease gene variant classification algorithms

Miguel de la Hoya, Omar Soukarieh, Irene López‐Perolio et al. · Human Molecular Genetics · 2016 · 89 citations · Full text

Comprehensive annotation of splice junctions supports pervasive alternative splicing at the BRCA1 locus: a report from the ENIGMA consortium

Mara Colombo, Marinus J. Blok, Phillip J Whiley et al. · Human Molecular Genetics · 2014 · 87 citations · Full text

Cancer Pathology, Genetics, Rna Splicing +20

Antigenic cross-reactivity in mice between third-stage larvae of Anisakis simplex and other nematodes

R. Iglesias, J. Leiro, Florencio M. Ubeira et al. · Parasitology Research · 1996 · 69 citations

Biology, Parasitic Disease, Other Nematodes +9

Comparison of mRNA Splicing Assay Protocols across Multiple Laboratories: Recommendations for Best Practice in Standardized Clinical Testing

Phillip J Whiley, Miguel de la Hoya, Mads Thomassen et al. · Clinical Chemistry · 2013 · 69 citations · Full text

Characterization of BRCA1 and BRCA2 splicing variants: a collaborative report by ENIGMA consortium members

Mads Thomassen, Ana Blanco, Marco Montagna et al. · Breast Cancer Research and Treatment · 2011 · 64 citations · Full text

Collaborative Report, Medicine, Genetics +10