de novo variant risk_factor_for autism spectrum disorder
Evidence from:
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Evidence (10 sources)
De Novo Damaging DNA Coding Mutations Are Associated With Obsessive-Compulsive Disorder and Overlap With Tourette's Disorder and Autism.
(2020)
PMID:31771860
cited
identification of multiple de novo LGD variants ... association with autism spectrum disorder
confidence: 0.90
6.9% ... of ASD cases have a de novo LGD variant mediating ASD risk
confidence: 0.94
estimate for de novo LGD variants in TD is similar to that for ASD (45.9%, 95% CI 31.8%–55.5%)
confidence: 0.92
role of large-effect de novo (arising in gametes) mutations in ASD
confidence: 0.90
CNV burden analysis included both rare transmitted and de novo CNVs; enrichment observed in ASD cases
confidence: 0.85
high (5–10%) rate of de novo CNVs in ASD
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
large de novo CNVs confer substantial risk for ASD in the SSC
confidence: 0.90
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.
(2011)
PMID:21658581
cited
enrich for rare de novo risk variants... to identify novel ASD risk loci
confidence: 0.92
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.
(2011)
PMID:21658581
cited
The over-representation of large de novo CNVs in ASD has been replicated...
confidence: 0.96
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.
(2011)
PMID:21658581
cited
75% of de novo CNVs in probands confer risk
confidence: 0.92