Genetics

An epigenetically distinct subset of children with autism spectrum disorder resulting from differences in blood cell composition.

Truncating SRCAP variants outside the Floating-Harbor syndrome locus cause a distinct neurodevelopmental disorder with a specific DNA methylation signature.

Gene-environment correlations and causal effects of childhood maltreatment on physical and mental health: A genetically informed approach.

16p11.2 deletion syndrome.

Analysis of common genetic variation and rare CNVs in the Australian Autism Biobank.

MVP predicts the pathogenicity of missense variants by deep learning.

‘There and back again’-forward genetics and reverse phenotyping in pulmonary arterial hypertension.

Homozygous deletions implicate non-coding epigenetic marks in autism spectrum disorder.

Cross-species regulatory sequence activity prediction.

Accuracy of short tandem repeats genotyping tools in whole exome sequencing data.

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