Publications in collaboration with researchers from University of Melbourne (6)

2012

  1. Mutations in the RNA exosome component gene EXOSC3 cause pontocerebellar hypoplasia and spinal motor neuron degeneration

    Nature Genetics, Vol. 44, Núm. 6, pp. 704-708

2011

  1. Call for participation in the neurogenetics consortium within the Human Variome Project

    Neurogenetics, Vol. 12, Núm. 3, pp. 169-173

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

  2. Practical guidelines addressing ethical issues pertaining to the curation of human locus-specific variation databases (LSDBs)

    Human Mutation, Vol. 31, Núm. 11, pp. 1179-1184

2009

  1. Planning the human variome project: The Spain report

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

2008

  1. Genetics: The human variome project

    Science