(FM) Unidad de Medicina Traslacional
Departamento académico
University of Chicago
Chicago, Estados UnidosPublicaciones en colaboración con investigadores/as de University of Chicago (26)
2018
-
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
-
Reprogramming human T cell function and specificity with non-viral genome targeting
Nature, Vol. 559, Núm. 7714, pp. 405-409
2017
2016
-
Estimating the ages of selection signals from different epochs in human history
Molecular Biology and Evolution, Vol. 33, Núm. 3, pp. 657-669
-
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
-
Olfactory dysfunction in older adults is associated with feelings of depression and loneliness
Chemical Senses, Vol. 41, Núm. 4, pp. 293-299
2015
-
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
-
Exploring genetic factors involved in huntington disease age of onset: E2F2 as a new potential modifier gene
PLoS ONE, Vol. 10, Núm. 7
-
Genome-wide meta-analysis on the sense of smell among US older adults
Medicine (United States), Vol. 94, Núm. 47, pp. e1892
-
PRIMAL: Fast and Accurate Pedigree-based Imputation from Sequence Data in a Founder Population
PLoS Computational Biology, Vol. 11, Núm. 3
-
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
-
Admixture facilitates genetic adaptations to high altitude in Tibet
Nature Communications, Vol. 5
-
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
2012
-
Reconstructing Native American population history
Nature, Vol. 488, Núm. 7411, pp. 370-374
-
The Genetic Architecture of Adaptations to High Altitude in Ethiopia
PLoS Genetics, Vol. 8, Núm. 12
2011
-
Adaptations to climate-mediated selective pressures in humans
PLoS Genetics, Vol. 7, Núm. 4
2010
-
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
-
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
-
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