Juliana C.N. Chan

A variant in CDKAL1 influences insulin response and risk of type 2 diabetes

A structural variation reference for medical and population genetics

Transcript expression-aware annotation improves rare variant interpretation

Characterising the loss-of-function impact of 5’ untranslated region variants in 15,708 individuals

Abstract Upstream open reading frames (uORFs) are tissue-specific cis -regulators of protein translation. Isolated reports have shown that variants that create or disrupt uORFs ...

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

The effect of LRRK2 loss-of-function variants in humans

Abstract Human genetic variants predicted to cause loss-of-function of protein-coding genes (pLoF variants) provide natural in vivo models of human gene inactivation and can be ...

Trends in the incidence of diagnosed diabetes: a multicountry analysis of aggregate data from 22 million diagnoses in high-income and middle-income settings

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

IDF Diabetes Atlas: Global, regional and country-level diabetes prevalence estimates for 2021 and projections for 2045