Paul S. Kruszka

The paper estimates the contribution of de novo coding mutations to autism using data from 38,680 trios, finding they explain 3.4% of autism variance.

The paper identifies 253 autism-associated genes using rare variation from 62,429 individuals and finds pleiotropy across physiological systems and developmental disorders.

The paper examines motivations and outcomes of elective genomic sequencing across research, clinical, and commercial contexts, finding most participants found results medically important but few shared them with healthcare providers.

The paper develops Paraphase, a HiFi-based method to resolve highly similar paralogous genes, revealing genetic diversity and de novo events in segmental duplications.

SeqFirst-neo uses a genotype-driven workflow with broad exclusion criteria to increase access to rapid whole genome sequencing in critically ill newborns, significantly improving the rate and equity of precise genetic diagnoses.

The paper identifies sex-chromosomal and autosomal gene responses to Xi and Y dosage in four human cell types, showing robustness in sex-chromosomal effects and cell-type-specific autosomal responses.

The paper shows that the inactive X and Y chromosomes similarly affect autosomal gene expression in human cells through shared transcription factors.

The paper analyzes VUS rates in genetic testing and finds lower rates in exome/genome sequencing compared to multi-gene panels, suggesting improvements in variant reporting practices.

This study identifies SMARCC1 mutations as a cause of congenital hydrocephalus, showing they lead to neural progenitor dysfunction and a new syndrome called SaDDS.

The paper shows that the inactive X chromosome modulates the expression of the active X chromosome in humans, affecting 38% of X-linked genes and contributing to sex differences in disease.