Publications in collaboration with researchers from University of Michigan–Ann Arbor (3)

2015

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

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

2014

  1. The alu-rich genomic architecture of SPAST predisposes to diverse and functionally distinct disease-associated CNV alleles

    American Journal of Human Genetics, Vol. 95, Núm. 2, pp. 143-161

2013

  1. Mutations in SLC20A2 are a major cause of familial idiopathic basal ganglia calcification

    Neurogenetics, Vol. 14, Núm. 1, pp. 11-22