Identification of ultra-rare genetic variants in Pediatric Acute Onset Neuropsychiatric Syndrome (PANS) by exome and whole genome sequencing
Rosario Rich Trifiletti, Herbert M. Lachman, Olivia R. Manusama, Deyou Zheng, Alberto Spalice, Pietro Chiurazzi, Allan Schornagel, Andreea M. Serban, Rogier van Wijck, Janet L. Cunningham, Sigrid M. A. Swagemakers, Peter J. van der Spek
This study identifies ultra-rare genetic variants in PANS patients through exome and whole genome sequencing, revealing candidate genes involved in both immune and neuronal pathways.
Scientific Reports · Jun 30, 2022Peer-reviewedGenetic & Genomic Medicine