de novo variant associated_with simplex families
Evidence from:
primary |
all sources
Evidence (3 sources)
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.
(2011)
PMID:21658581
cited
elevated rates of rare de novo CNVs in simplex families (5.8% of probands versus 1.7% in siblings)
confidence: 0.95
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.
(2011)
PMID:21658581
cited
two of the three studies ... have confirmed a greater abundance in simplex versus multiplex ASD families
confidence: 0.93
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.
(2011)
PMID:21658581
cited
This burden of rare de novo CNVs in simplex families is remarkably similar to previously published results...
confidence: 0.90