Michael Ronemus

TL;DR: The number of genetic loci that underlie ASDs and the relative contributions from different mutational classes are considered, and possible mechanisms by which these mutations might lead to dysfunction are discussed.

TL;DR: In this paper, the contribution of de novo copy number variants (CNVs) in the pathogenesis of sporadic Congenital Heart Disease (CHD) was investigated using genome-wide dense single nucleotide polymorphism arrays and whole exome sequencing.

TL;DR: This work characterized whole genome sequencing, whole exome sequencing, and PCR-free sequencing data from the same samples to investigate the sources of INDEL errors and developed a classification scheme based on the coverage and composition to rank high and low quality INDEL calls.

TL;DR: Results indicate that a subset of endogenous mRNA targets of RNA interference may be regulated through a mechanism of second-strand RNA synthesis and degradation initiated by or in addition to miRNA-mediated cleavage.

TL;DR: Gene targets of de novo mutation in autistic children have a lighter load of rare disruptive variation than typical human genes, which suggests such mutations are under negative selection and autism genes are highly vulnerable to mutation.