Erwin P. Böttinger

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

Konrad J. Karczewski, Laurent C. Francioli, Grace Tiao et al. · Nature · 2020 · 9.6K citations · Full text

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

Anubha Mahajan, Daniel Taliun, Matthias Thurner et al. · Nature Genetics · 2018 · 1.9K citations · Full text

Genome-wide Association Study, Allelic Variant, Genetic Determinant +11

Defective fatty acid oxidation in renal tubular epithelial cells has a key role in kidney fibrosis development

Hyun Mi Kang, Seon Ho Ahn, Peter S. Choi et al. · Nature Medicine · 2014 · 1.4K citations · Full text

Kidney Fibrosis Development, Fibrosis, Key Role +13

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

Siwei Chen, Laurent C. Francioli, Julia K. Goodrich et al. · Nature · 2023 · 1.1K citations · Full text

Medicine, Genetics, Evolutionary Biology +8

The genetic architecture of type 2 diabetes

Christian Fuchsberger, Jason Flannick, Tanya M. Teslovich et al. · Nature · 2016 · 1.1K citations · Full text

Genetic Determinant, Genetics, Diabetes +6