Serdar Ceylaner

DAVP uses an agentic-LLM pipeline to prioritize genetic variants for diagnosis, achieving high recall in identifying causal variants across multiple datasets.

The paper identifies biallelic loss-of-function OBSCN variants in six patients with severe, recurrent rhabdomyolysis and shows reduced OBSCN expression and impaired SR Ca2+ handling in patient muscle.

The paper identifies C2orf69 deficiency as a cause of a fatal auto-inflammatory syndrome in humans and zebrafish, affecting mitochondrial function and immune/cNS development.