José C. Florez

Research interests

Publications

• Author Correction: A genomic mutational constraint map using variation in 76,156 human genomes

  Nature · 2024 · https://doi.org/10.1038/s41586-024-07050-7

• A genomic mutational constraint map using variation in 76,156 human genomes

  Nature · 2023 · https://doi.org/10.1038/s41586-023-06045-0

• Transcript expression-aware annotation improves rare variant interpretation

  Nature · 2020 · https://doi.org/10.1038/s41586-020-2329-2

• Precision Medicine in Diabetes: A Consensus Report From the American Diabetes Association (ADA) and the European Association for the Study of Diabetes (EASD)

  Diabetes Care · 2020 · https://doi.org/10.2337/dci20-0022

• Landscape of multi-nucleotide variants in 125,748 human exomes and 15,708 genomes

  Nature Communications · 2020 · https://doi.org/10.1038/s41467-019-12438-5

• Precision medicine in diabetes: a Consensus Report from the American Diabetes Association (ADA) and the European Association for the Study of Diabetes (EASD)

  Diabetologia · 2020 · https://doi.org/10.1007/s00125-020-05181-w

• The mutational constraint spectrum quantified from variation in 141,456 humans

  Nature · 2020 · https://doi.org/10.1038/s41586-020-2308-7

• A Genome-Wide Association Study of Diabetic Kidney Disease in Subjects With Type 2 Diabetes

  Diabetes · 2018 · https://doi.org/10.2337/db17-0914

• Fine-mapping type 2 diabetes loci to single-variant resolution using high-density imputation and islet-specific epigenome maps

  Nature Genetics · 2018 · https://doi.org/10.1038/s41588-018-0241-6

• Analysis of protein-coding genetic variation in 60,706 humans

  Nature · 2016 · https://doi.org/10.1038/nature19057

• Genome-wide trans-ancestry meta-analysis provides insight into the genetic architecture of type 2 diabetes susceptibility

  Nature Genetics · 2014 · https://doi.org/10.1038/ng.2897

• Association of a Low-Frequency Variant in HNF1A With Type 2 Diabetes in a Latino Population

  JAMA · 2014 · https://doi.org/10.1001/jama.2014.6511

• Impact of Type 2 Diabetes Susceptibility Variants on Quantitative Glycemic Traits Reveals Mechanistic Heterogeneity

  Diabetes · 2013 · https://doi.org/10.2337/db13-0949

• Large-scale association analysis provides insights into the genetic architecture and pathophysiology of type 2 diabetes

  Nature Genetics · 2012 · 10.1038/ng.2383

• Physical Activity Attenuates the Influence of FTO Variants on Obesity Risk: A Meta-Analysis of 218,166 Adults and 19,268 Children

  PLoS Medicine · 2011 · https://doi.org/10.1371/journal.pmed.1001116

• Common genetic determinants of vitamin D insufficiency: a genome-wide association study

  The Lancet · 2010 · 10.1016/s0140-6736(10)60588-0

• Variants in MTNR1B influence fasting glucose levels

  Nature Genetics · 2008 · 10.1038/ng.290

Current projects

No projects listed.