Phenotypic and functional analysis of SHANK3 stop mutations identified in individuals with ASD and/or ID

1 Institute for Anatomy and Cell Biology, Ulm University, Albert-Einstein-Allee 11, Ulm, D-89081, Germany

2 Seaver Autism Center for Research and Treatment, Icahn School of Medicine at Mount Sinai, One Gustave L. Levy Place, New York 10029, NY, USA

3 Friedman Brain Institute, Icahn School of Medicine at Mount Sinai, One Gustave L. Levy Place, New York 10029, NY, USA

4 Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai, One Gustave L. Levy Place, New York 10029, NY, USA

5 Department of Psychiatry, Icahn School of Medicine at Mount Sinai, One Gustave L. Levy Place, New York 10029, NY, USA

6 Department of Pediatrics, Icahn School of Medicine at Mount Sinai, One Gustave L. Levy Place, New York 10029, NY, USA

7 Neuroscience Division, Center for Applied Medical Research, CIMA, University of Navarra, Av. Pio XII 55, Pamplona, 31008, Spain

8 Department of Neuroscience, Icahn School of Medicine at Mount Sinai, One Gustave L. Levy Place, New York 10029, NY, USA

9 Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, One Gustave L. Levy Place, New York 10029, NY, USA