Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands.
Simons Simplex Collection
Associations between family member BMI and obesity status of children with autism spectrum disorder.
Prediction and interpretation of deleterious coding variants in terms of protein structural stability.
Robust identification of deletions in exome and genome sequence data based on clustering of Mendelian errors.
Adaptive behavior in autism: Minimal clinically important differences on the Vineland-II
Clinical phenotype of ASD-associated DYRK1A haploinsufficiency.
TiSAn: Estimating tissue specific effects of coding and non-coding variants.
Children with autism spectrum disorder who improve with fever: Insights from the Simons Simplex Collection.
Functional significance of rare neuroligin 1 variants found in autism.
Exonic mosaic mutations contribute risk for autism spectrum disorder.
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