Recurrent homozygous damaging mutation in TMX2, encoding a protein disulfide isomerase, in four families with microlissencephaly.
Genetics
In vivo functional study of disease-associated rare human variants using Drosophila.
De novo damaging DNA coding mutations are associated with obsessive-compulsive disorder and overlap with Tourette’s disorder and autism.
Nucleosome turnover regulates histone methylation patterns over the genome.
Integrating germline and mosaic mutations to uncover novel autism risk genes and biological mechanisms
Neurodevelopmental disorders, at-large, are genetically complex with hundreds of independent risk loci. Disruption of this diverse set of factors ultimately leads to the behaviorally defined clinical phenotypes that we have today, such as autism spectrum disorder (ASD). We still have little understanding of: (1) the core biology (pathophysiology) behind these conditions; (2) whether our clinically defined groups are single conditions or collections of hundreds of similar phenotypic presentations; and (3) how many roads may lead to the same underlying condition.
Optical pooled screens in human cells.
Disruptive mutations in TANC2 define a neurodevelopmental syndrome associated with psychiatric disorders
Biallelic variants in AGMO with diminished enzyme activity are associated with a neurodevelopmental disorder.
Disruptive variants of CSDE1 associate with autism and interfere with neuronal development and synaptic transmission.
Systematic phenomics analysis of ASD-associated genes reveals shared functions and parallel networks underlying reversible impairments in habituation learning.
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