for Applied Genomics (TCAG) and The Centre for Addiction and Mental Health (CAMH). Details of all samples included in the study are summarized in table S5. Institutional ethical review board approval (CAMH, HSC, CHOP and all other collaborating institutions) was obtained for the study, and informed written consent was obtained for each family. Details of the clinical findings in families with PTCHD1 mutations or CNVs are summarized in table S1.
