Publicacións en colaboración con investigadores/as de University of Michigan–Ann Arbor (6)

2020

  1. Cumulative Burden of Colorectal Cancer–Associated Genetic Variants Is More Strongly Associated With Early-Onset vs Late-Onset Cancer

    Gastroenterology, Vol. 158, Núm. 5, pp. 1274-1286.e12

2019

  1. Novel common genetic susceptibility loci for colorectal cancer

    Journal of the National Cancer Institute, Vol. 111, Núm. 2, pp. 146-157

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

2011

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

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