1. Genetic and metabolic profiling of individuals with Phelan‐McDermid syndrome presenting with seizures. Issue 1 (27th October 2021) Authors: Jain, Lavanya; Oberman, Lindsay M.; Beamer, Laura; Cascio, Lauren; May, Melanie; Srikanth, Sujata; Skinner, Cindy; Jones, Kelly; Allen, Bridgette; Rogers, Curtis; Phelan, Katy; Kaufmann, Walter E.; DuPont, Barbara; Sarasua, Sara M.; Boccuto, Luigi Journal: Clinical genetics Issue: Volume 101:Issue 1(2022) Page Start: 87 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗