Large 22q13.3 deletions perturb peripheral transcriptomic and metabolomic profiles in Phelan-McDermid syndrome

Peripheral blood transcriptomic data were generated across 68 PMS participants, including Class I sequence variants and mutations (n=33) and Class II mutations (n=35), as well as an age and sex matched control group (n=24), which largely consisted of unaffected siblings (~91%). Examination of peripheral blood gene expression profiles between PMS participants with Class I and Class II 22q13.3 mutations.