De novo variants in EBF3 are associated with hypotonia, developmental delay, intellectual disability and autism.
Genetics
A genotype-first approach identifies an intellectual disability-overweight syndrome caused by PHIP haploinsufficiency.
NetSig: Network-based discovery from cancer genomes.
Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands.
Indexcov: fast coverage quality control for whole-genome sequencing.
Robust identification of deletions in exome and genome sequence data based on clustering of Mendelian errors.
Genomic patterns of de novo mutation in simplex autism.
Delineating neurodevelopmental causal paths to autism symptoms in infancy
Meaburn and Jones will test causal paths between ASD genetic risk and disruptions in the brain systems underpinning social attention, and examine how candidate protective environmental factors might moderate genetic risk.
TiSAn: Estimating tissue specific effects of coding and non-coding variants.
Exonic mosaic mutations contribute risk for autism spectrum disorder.
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