Rubén Martín‐Arenas

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

Lara Rodríguez‐Laguna, Noelia Agrá, Gloria Oliva-Molina et al. · The Journal of Experimental Medicine · 2018 · 149 citations · Full text

Medicine, Molecular Genetics, Molecular Medicine +15

CLAPO syndrome: identification of somatic activating PIK3CA mutations and delineation of the natural history and phenotype

Lara Rodríguez‐Laguna, Kristina Ibáñez, Gema Gordo et al. · Genetics in Medicine · 2018 · 80 citations · Full text

Life Sciences, Genetics, Molecular Genetics +6

Improving molecular diagnosis of aniridia and WAGR syndrome using customized targeted array-based CGH

Fiona Blanco‐Kelly, María Palomares‐Bralo, Elena Vallespín et al. · PLoS ONE · 2017 · 42 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Cross-oncopanel study reveals high sensitivity and accuracy with overall analytical performance depending on genomic regions

Binsheng Gong, Dan Li, Rebecca Kusko et al. · Genome biology · 2021 · 39 citations · Full text

Life Sciences, Molecular Genetics, Oncology +17

Customized high resolution CGH‐array for clinical diagnosis reveals additional genomic imbalances in previous well‐defined pathological samples

Elena Vallespín, María Palomares‐Bralo, M. A. Mori et al. · American Journal of Medical Genetics Part A · 2013 · 36 citations

Life Sciences, Genetics, Molecular Genetics +16