Large deletions perturb peripheral transcriptomic and metabolomic profiles in Phelan-McDermid syndrome
Michael S. Breen, Xuanjia Fan, Tess Levy, Rebecca M. Pollak, Brett L. Collins, Aya Osman, Anna S. Tocheva, Mustafa Şahin, Elizabeth Berry‐Kravis, Latha Valluripalli Soorya, Audrey E. Thurm, Craig M. Powell, Jonathan Adam Bernstein, Alexander Kolevzon, Joseph D. Buxbaum, , Jennifer M. Phillips
This study identifies molecular differences between PMS patients with small and large deletions, showing reduced cytotoxic cell signatures and sphingolipid metabolism in large deletions.
Human Genetics and Genomics Advances · Sep 26, 2022Peer-reviewedGenetic & Genomic Medicine