Publications (5) Publications in which a researcher has participated

filter_list Genetics, Medical

2021

  1. Co-occurrence of germline pathogenic variants for different hereditary cancer syndromes in patients with Lynch syndrome

    Cancer Communications, Vol. 41, Núm. 3, pp. 218-228

2020

  1. SEOM clinical guideline on hereditary colorectal cancer (2019)

    Clinical and Translational Oncology, Vol. 22, Núm. 2, pp. 201-212

2018

  1. Primary constitutional MLH1 epimutations: a focal epigenetic event

    British Journal of Cancer, Vol. 119, Núm. 8, pp. 978-987

2014

  1. Mutations in EMP2 cause childhood-onset Nephrotic syndrome

    American Journal of Human Genetics, Vol. 94, Núm. 6, pp. 884-890

2013

  1. ZMYND10 is mutated in primary ciliary dyskinesia and interacts with LRRC6

    American Journal of Human Genetics, Vol. 93, Núm. 2, pp. 336-345