Ester Castellsagué

Germline and somatic SMARCA4 mutations characterize small cell carcinoma of the ovary, hypercalcemic type

Leora Witkowski, Jian Carrot‐Zhang, Steffen Albrecht et al. · Nature Genetics · 2014 · 489 citations

Somatic Smarca4 Mutations, Somatic Variant, Hypercalcemic Type +8

Next-generation sequencing meets genetic diagnostics: development of a comprehensive workflow for the analysis of BRCA1 and BRCA2 genes

Lídia Feliubadaló, Adriana López‐Doriga, Ester Castellsagué et al. · European Journal of Human Genetics · 2012 · 113 citations · Full text

Allele-Specific Expression of APC in Adenomatous Polyposis Families

Ester Castellsagué, Sara González, Elisabet Guinó et al. · Gastroenterology · 2010 · 39 citations · Full text

Allelic Variant, Adenomatous Polyposis Families, Genetics +6

Detection of APC Gene Deletions Using Quantitative Multiplex PCR of Short Fluorescent Fragments

Ester Castellsagué, Sara González, Marga Nadal et al. · Clinical Chemistry · 2008 · 27 citations · Full text

Novel<i>POLE</i>pathogenic germline variant in a family with multiple primary tumors results in distinct mutational signatures

Ester Castellsagué, Rui Li, Rosa Aligué et al. · Human Mutation · 2018 · 27 citations