The NeuroDev study: Phenotypic and genetic characterization of neurodevelopmental disorders in Kenya and South Africa.
Genetics
Neurodevelopmental disease genes implicated by de novo mutation and copy number variation morbidity.
Inherited and multiple de novo mutations in autism/developmental delay risk genes suggest a multifactorial model.
Genome sequencing identifies multiple deleterious variants in autism patients with more severe phenotypes.
Integrative functional genomic analysis of human brain development and neuropsychiatric risks.
Genome-wide de novo risk score implicates promoter variation in autism spectrum disorder.
A machine-learning approach for accurate detection of copy-number variants from exome sequencing.
Calculating the effects of autism risk gene variants on dysfunction of biological processes identifies clinically-useful information.
Lost in translation: Traversing the complex path from genomics to therapeutics in autism spectrum disorder.
Disentangling autism heterogeneity through multivariate genetic analyses
Autism spectrum disorders (ASDs) are highly heterogeneous neurodevelopmental conditions. Beate St Pourcain aims to disentangle autism heterogeneity by identifying shared and unique genetic factors among co-occurring ASD symptoms.
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