Karol Estrada

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

Quantifying prion disease penetrance using large population control cohorts

Large genomic reference data sets reveal a spectrum of pathogenicity in the prion protein gene and provide genetic validation for a therapeutic strategy in prion disease.

Hundreds of variants clustered in genomic loci and biological pathways affect human height

Defining the role of common variation in the genomic and biological architecture of adult human height

Genomic inflation factors under polygenic inheritance

Population structure, including population stratification and cryptic relatedness, can cause spurious associations in genome-wide association studies (GWAS). Usually, the scaled...

Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index

Obesity is globally prevalent and highly heritable, but its underlying genetic factors remain largely elusive. To identify genetic loci for obesity susceptibility, we examined a...

Six new loci associated with body mass index highlight a neuronal influence on body weight regulation