Rare exonic deletions implicate the synaptic organizer Gephyrin (GPHN) in risk for autism, schizophrenia and seizures.
Anath C Lionel, Andrea K Vaags, Daisuke Sato, Matthew J Gazzellone, Elyse B Mitchell, Hong Yang Chen, Gregory Costain, Susan Walker, Gerald Egger, Bhooma Thiruvahindrapuram, Daniele Merico, Aparna Prasad, Evdokia Anagnostou, Eric Fombonne, Lonnie Zwaigenbaum, Wendy Roberts, Peter Szatmari, Bridget A Fernandez, Lyudmila Georgieva, Linda M Brzustowicz, Katharina Roetzer, Wolfgang Kaschnitz, John B Vincent, Christian Windpassinger, Christian R Marshall, Rosario R Trifiletti, Salman Kirmani, George Kirov, Erwin Petek, Jennelle C Hodge, Anne S Bassett, Stephen W Scherer
Human molecular genetics 2013;22(10):2055-66