Christian Schlein

The paper identifies norepinephrine as a trigger of macrophage efferocytosis in brown adipose tissue, linking sympathetic signaling to metabolic adaptation through β2-adrenergic and Axl/Mertk pathways.

This study compares trio, singleton, and standard genome sequencing in rare disease diagnosis, finding trio sequencing has the highest diagnostic yield.

The paper introduces a cost-effective in vitro assay to assess the functional impact of single and multi-gene variants in obesity, identifying putatively pathogenic variants and digenic combinations.

This study identifies the Nfe2l1-Atf3 pathway as a regulator of cholesterol-induced adipocyte inflammation and insulin resistance in both human and mouse models.

The paper evaluates a structured diagnostic framework for ultra-rare diseases, showing improved genetic diagnoses and novel gene-disease associations using exome sequencing and AI tools.