A polygenic burden of rare disruptive mutations in schizophrenia
Original research article by S.M. Purcell et al. (2014).
Read the article here.
This study screened over 5,000 individuals from a population in Sweden for about 2,500 genes that are candidates for autism and intellectual disability. One patient diagnosed with autism was found to have a mutation in SYNGAP1 that was not present in either parent (de novo).