Patients 7, 8 and 9 were discovered from a MIP based screen of 2743 probands with intellectual disability and/or ASD). Patient 10 was included from a MIP based screen of 2446 autism patients from the Simon Simplex Collection (SSC)16. The MIP screening and analysis was performed as previously described, and MIP probe sequences for ADNP are available in O’Roak et al, 201216. Inheritance determination and validation were performed by Sanger sequencing.
