Eirik Bratland

Systematic and proactive evaluation of AIRE missense variant effects

This study proactively evaluates the functional effects of 9790 AIRE missense variants using a reporter assay, providing evidence for 70% of previously classified variants of uncertain significance.

The Genetic and Proteomic Determinants of Pediatric Stature Development and their link to adult height and Type 2 Diabetes

This study identifies genetic and proteomic factors influencing pediatric stature across life stages and links them to adult height and type 2 diabetes risk.

High-Resolution Transcriptional Impact of AIRE: Effects of Pathogenic Variants p.Arg257Ter, p.Cys311Tyr, and Polygenic Risk Variant p.Arg471Cys

The paper evaluates the transcriptional impact of three AIRE variants using a cell system, showing different functional effects on gene expression.

Contribution of Rare Large High-Penetrance CNVs to Pediatric and MODY Diabetes in Norway

The paper identifies rare, large, high-penetrance CNVs in Norwegian pediatric diabetes and MODY patients, finding 0.63% and 0.09% of cases attributable to pathogenic deletions, with some undetected by standard methods.

Understanding the genetic complexity of puberty timing across the allele frequency spectrum

This study identifies genetic signals associated with age at menarche, highlights genes involved in pubertal development, and links reproductive timing to later life disease risk.