Dr. Sanders trained as a pediatric physician in the UK before pursuing a research career in genomics and bioinformatics. His work has helped characterize the role of de novo mutation in the etiology of ASD and identified multiple ASD risk loci including de novo duplications of the 7q11.23 William’s Syndrome region (Sanders et al. Neuron 2011) and de novo loss of function mutations in the sodium channel gene SCN2A (Sanders et al. Nature 2012). Working with the Autism Sequencing Consortium (ASC), he helped implement this approach to gene discovery to analyze over 25,000 samples and identify 71 ASD risk loci by integrating CNV and exome data (Sanders et al. Neuron 2015). This approach was since led to gene discovery in a rapidly expanding list of childhood disorders including: congenital heart disease, developmental delay, CNS malformation, and epileptic encephalopathy.
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Papers by Stephan Sanders