Publications in collaboration with researchers from French Institute of Health and Medical Research (9)

2024

  1. Minimal information for studies of extracellular vesicles (MISEV2023): From basic to advanced approaches

    Journal of Extracellular Vesicles, Vol. 13, Núm. 2

2021

  1. Guidelines for the use and interpretation of assays for monitoring autophagy (4th edition)1

    Autophagy, Vol. 17, Núm. 1, pp. 1-382

2019

  1. Hypothalamic miR-30 regulates puberty onset via repression of the puberty-suppressing factor, Mkrn3

    PLoS Biology, Vol. 17, Núm. 11

2015

  1. Atlas of the clinical genetics of human dilated cardiomyopathy

    European Heart Journal, Vol. 36, Núm. 18, pp. 1123-1135

  2. Mutations in XPR1 cause primary familial brain calcification associated with altered phosphate export

    Nature Genetics, Vol. 47, Núm. 6, pp. 579-581

2013

  1. Mutations in the gene encoding PDGF-B cause brain calcifications in humans and mice

    Nature Genetics, Vol. 45, Núm. 9, pp. 1077-1082

2010

  1. How to catch all those mutations-the report of the third human variome project meeting, UNESCO Paris, May 2010

    Human Mutation, Vol. 31, Núm. 12, pp. 1374-1381

2009

  1. Planning the human variome project: The Spain report

    Human Mutation, Vol. 30, Núm. 4, pp. 496-510

2007

  1. Casein kinase 1 is a novel negative regulator of E-cadherin-based cell-cell contacts

    Molecular and Cellular Biology, Vol. 27, Núm. 10, pp. 3804-3816