Two protein-based genetic elements (prions) have been identified in yeast. It is not clear
whether other prions exist, nor is it understood how one might find them. We established criteria …

Purpose Genetic testing is an integral diagnostic component of pediatric medicine. Standard
of care is often a time-consuming stepwise approach involving chromosomal microarray …

Expansion of polyglutamine repeats in several unrelated proteins causes neurodegenerative
diseases with distinct but related pathologies. To provide a model system for investigating …

Fully understanding autism spectrum disorder (ASD) genetics requires whole-genome
sequencing (WGS). We present the latest release of the Autism Speaks MSSNG resource, which …

Yeast prions are inherited through proteins that exist in alternate, self-perpetuating
conformational states. The mechanisms by which these states arise and are maintained are still …

Whole-exome sequencing and autozygosity mapping studies, independently performed in
subjects with defective combined mitochondrial OXPHOS-enzyme deficiencies, identified a …

Mitochondrial DNA (mtDNA) variant pathogenicity interpretation has special considerations
given unique features of the mtDNA genome, including maternal inheritance, variant …

Novel or rare variants in mitochondrial tRNA sequences may be observed after mitochondrial
DNA analysis. Determining whether these variants are pathogenic is critical, but …

Whole-genome sequencing (WGS) as a first-tier diagnostic test could transform medical genetic
assessments, but there are limited data regarding its clinical use. We previously showed …

The yeast prion [PSI + ] provides an epigenetic mechanism for the inheritance of new phenotypes
through self-perpetuating changes in protein conformation. [PSI + ] is a nonfunctional, …