Mark D. Gorrell

The paper shows that disease-associated variants in alternative protein isoforms can cause structural mutations, emphasizing the need to consider tissue-specific expression and full-length transcripts in variant interpretation.

This study identifies DPP9 deficiency as a Mendelian disorder causing inflammasome hyperactivity, which can be rescued by reducing NLRP1/IL-1 signaling in mice.

This study shows that FAP deficiency in diet-induced obese mice reduces liver steatosis, insulin resistance, and glucose intolerance while increasing FGF-21 levels.