María José Gamundi

Clinical pharmacogenomic testing of KRAS, BRAF and EGFRmutations by high resolution melting analysis and ultra-deep pyrosequencing

Emma Borràs, Ismael Jurado, Imma Hernán et al. · BMC Cancer · 2011 · 92 citations · Full text

Medicine, Molecular Genetics, Oncology +17

Detection of Genomic Variations in BRCA1 and BRCA2 Genes by Long-Range PCR and Next-Generation Sequencing

Imma Hernán, Emma Borràs, Miguel Dias et al. · Journal of Molecular Diagnostics · 2012 · 49 citations · Full text

Life Sciences, Genetics, Molecular Genetics +12

Delineation of the Clinical, Molecular and Cellular Aspects of Novel <i>JAM</i> <i>3</i> Mutations Underlying the Autosomal Recessive Hemorrhagic Destruction of the Brain, Subependymal Calcification, and Congenital Cataracts

Nadia Akawi, Fuat Emre Canpolat, Susan M. White et al. · Human Mutation · 2012 · 45 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

<i>De novo</i> germline mutation in the serine–threonine kinase <i>STK11/LKB1</i> gene associated with Peutz–Jeghers syndrome

Imma Hernán, Ignasi Roig, Betty K. Martin et al. · Clinical Genetics · 2004 · 41 citations

Life Sciences, Genetics, Molecular Genetics +10

Transcriptional expression of<i>cis</i>-acting and<i>trans</i>-acting splicing mutations cause autosomal dominant retinitis pigmentosa

María José Gamundi, Imma Hernán, Marta Muntanyola et al. · Human Mutation · 2008 · 39 citations

Life Sciences, Genetics, Molecular Genetics +14