Publications in collaboration with researchers from French Institute of Health and Medical Research (4)

2015

  1. 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