Monthly Archives: March 2011

Novel de novo SHANK3 Mutation Found

A study headed by Jacques Michaud from the University of Montreal identified a de novo splice site mutation in the SHANK3 gene in a boy with mild intellectual disability. This mutation changes the assembly of the protein during its synthesis and … Continue reading

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NYC Triathlon Team to Raise Money for Autism

Dr. Buxbaum and the Seaver Autism Center are proud to join the Singer family, and Team Drive4Rebecca in the New York City Triathlon on August 7, 2011. The Drive4Rebecca is a proud supporter of the groundbreaking research underway at the Seaver … Continue reading

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Seaver Autism Center Advances in Autism Conference

The  Seaver Autism Center Advances in Autism Conference will be held on Sunday, April 3, 2011. Chaired by Dr. Joseph Buxbaum, Director of the Seaver Autism Center, the conference is designed for healthcare professionals, educators, social workers and family members, … Continue reading

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New Study Supports SHANK3 Finding

A new study with a woman with Phelan-McDermid Syndrome (PMS) identifies the smallest published SHANK3 deletion to date. The fact that this small deletion results in the full manifestations of PMS reinforces the finding that disruption of the SHANK3 gene … Continue reading

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