Beatriz Paumard‐Hernández

A mutation in the POT1 gene is responsible for cardiac angiosarcoma in TP53-negative Li–Fraumeni-like families

Oriol Calvete, Paula Martínez, Pablo García‐Pavía et al. · Nature Communications · 2015 · 165 citations · Full text

Medicine, Genetics, Molecular Genetics +17

Exome sequencing identifies ATP4A gene as responsible of an atypical familial type I gastric neuroendocrine tumour

Oriol Calvete, José Reyes, S. Zúñiga et al. · Human Molecular Genetics · 2015 · 77 citations · Full text

Medicine, Genetics, Oncology +17

Identification of the first recurrent PAR1 deletion in Léri-Weill dyschondrosteosis and idiopathic short stature reveals the presence of a novel <i>SHOX</i> enhancer

Sara Benito‐Sanz, José Luís Royo, Eva Barroso et al. · Journal of Medical Genetics · 2012 · 68 citations

Life Sciences, Cell Biology, Immunology +17

Expanding the mutation spectrum in 182 Spanish probands with craniosynostosis: identification and characterization of novel TCF12 variants

Beatriz Paumard‐Hernández, Julia Berges‐Soria, Eva Barroso et al. · European Journal of Human Genetics · 2014 · 66 citations · Full text

Medicine, Genetics, Molecular Genetics +16

Whole exome sequencing identifies <i>PLEC</i>, <i>EXO5</i> and <i>DNAH7</i> as novel susceptibility genes in testicular cancer

Beatriz Paumard‐Hernández, Oriol Calvete, Lucía Inglada‐Pérez et al. · International Journal of Cancer · 2018 · 35 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17