Coding and noncoding variants in ebf3 are involved in hadds and simplex autism

HIGHLIGHTS

  • who: Evin M. Padhi from the Department of Genetics, Washington University School of Medicine, Clayton Campus Box, StLouis, MO, USA have published the Article: Coding and noncoding variants in EBF3 are involved in HADDS and simplex autism, in the Journal: (JOURNAL)
  • what: The authors assessed whole-genome sequencing data in 2671 families with autism (discovery cohort of 516 families replication cohort of 2155 families). The authors focused on DNVs in enhancers with characterized in vivo activity in the brain and identified an excess of DNVs in an enhancer named hs737. This work provides critical insights . . .

     

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