Publicacións en colaboración con investigadores/as de University of Michigan–Ann Arbor (10)

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. Electrophysiological abnormalities in induced pluripotent stem cell-derived cardiomyocytes generated from Duchenne muscular dystrophy patients

    Journal of Cellular and Molecular Medicine, Vol. 23, Núm. 3, pp. 2125-2135

2017

  1. The GH/IGF-1 axis in a critical period early in life determines cellular DNA repair capacity by altering transcriptional regulation of DNA repair-related genes: implications for the developmental origins of cancer

    GeroScience, Vol. 39, Núm. 2, pp. 147-160

2016

  1. Genome-wide associations for birth weight and correlations with adult disease

    Nature, Vol. 538, Núm. 7624, pp. 248-252

2015

  1. A new strategy for enhancing imputation quality of rare variants from next-generation sequencing data via combining SNP and exome chip data

    BMC Genomics, Vol. 16, Núm. 1

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

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

2014

  1. Rare variants in PPARG with decreased activity in adipocyte differentiation are associated with increased risk of type 2 diabetes

    Proceedings of the National Academy of Sciences of the United States of America, Vol. 111, Núm. 36, pp. 13127-13132

  2. 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