Publicaciones en colaboración con investigadores/as de University of Chicago (26)

2018

  1. Pancreatic histopathology of human monogenic diabetes due to causal variants in KCNJ11, HNF1A, GATA6, and LMNA

    Journal of Clinical Endocrinology and Metabolism, Vol. 103, Núm. 1, pp. 35-45

  2. Reprogramming human T cell function and specificity with non-viral genome targeting

    Nature, Vol. 559, Núm. 7714, pp. 405-409

2017

  1. Clinical utility of gene panel-based testing for hereditary myelodysplastic syndrome/acute leukemia predisposition syndromes

    Leukemia

2016

  1. Estimating the ages of selection signals from different epochs in human history

    Molecular Biology and Evolution, Vol. 33, Núm. 3, pp. 657-669

  2. Improved molecular diagnosis of patients with neonatal diabetes using a combined next-generation sequencing and MS-MLPA approach

    Journal of Pediatric Endocrinology and Metabolism, Vol. 29, Núm. 5, pp. 523-531

  3. Olfactory dysfunction in older adults is associated with feelings of depression and loneliness

    Chemical Senses, Vol. 41, Núm. 4, pp. 293-299

2015

  1. Continued lessons from the INS gene: An intronic mutation causing diabetes through a novel mechanism

    Journal of Medical Genetics, Vol. 52, Núm. 9, pp. 612-616

  2. Exploring genetic factors involved in huntington disease age of onset: E2F2 as a new potential modifier gene

    PLoS ONE, Vol. 10, Núm. 7

  3. Genome-wide meta-analysis on the sense of smell among US older adults

    Medicine (United States), Vol. 94, Núm. 47, pp. e1892

  4. PRIMAL: Fast and Accurate Pedigree-based Imputation from Sequence Data in a Founder Population

    PLoS Computational Biology, Vol. 11, Núm. 3

  5. Strong artificial selection in domestic mammals did not result in an increased recombination rate

    Molecular Biology and Evolution, Vol. 32, Núm. 2, pp. 510-523

2014

  1. Admixture facilitates genetic adaptations to high altitude in Tibet

    Nature Communications, Vol. 5

  2. Phenotypic heterogeneity in monogenic diabetes: The clinical and diagnostic utility of a gene panel-based next-generation sequencing approach

    Molecular Genetics and Metabolism, Vol. 113, Núm. 4, pp. 315-320

2013

  1. Plasma hepcidin of Ethiopian highlanders with steady-state hypoxia

    Blood

2012

  1. Reconstructing Native American population history

    Nature, Vol. 488, Núm. 7411, pp. 370-374

  2. The Genetic Architecture of Adaptations to High Altitude in Ethiopia

    PLoS Genetics, Vol. 8, Núm. 12

2011

  1. Adaptations to climate-mediated selective pressures in humans

    PLoS Genetics, Vol. 7, Núm. 4

2010

  1. Adaptations to new environments in humans: The role of subtle allele frequency shifts

    Philosophical Transactions of the Royal Society B: Biological Sciences, Vol. 365, Núm. 1552, pp. 2459-2468

  2. Human adaptations to diet, subsistence, and ecoregion are due to subtle shifts in allele frequency

    In the Light of Evolution (National Academies Press), pp. 63-79

  3. Human adaptations to diet, subsistence, and ecoregion are due to subtle shifts in allele frequency

    Proceedings of the National Academy of Sciences of the United States of America, Vol. 107, Núm. SUPPL. 2, pp. 8924-8930