Background Mammalian X and Y chromosomes share a common evolutionary origin and
retain regions of high sequence similarity. Similar sequence content can confound the …

… To determine if KDM5A mutations cause ASD in humans, we screened whole exome
sequencing and microarray data from a clinical cohort. We identified pathogenic KDM5A variants in …

Foxp3 + regulatory T cells (Treg) are essential modulators of immune responses, but the
molecular mechanisms underlying their function are not fully understood. Here we show that the …

Genome-wide sequencing (GWS) is a standard of care for diagnosis of suspected genetic
disorders, but the proportion of patients found to have pathogenic or likely pathogenic variants …

Background NGLY1-CDDG is a congenital disorder of deglycosylation caused by a defective
peptide:N-glycanase (PNG). To date, all but one of the reported patients have been …

… The observation that Blimp-1–deficient CD4+ T cells are more prone to differentiate into IL-17+/IFN-γ+
cells and cause severe colitis when transferred to Rag1-deficient mice provides …

… of the housekeeping gene (β2 M) and the other genes investigated. The relative expression
of each target gene was then normalized to the relative expression of β2 M in each sample. …

We examined the utility of clinical and research processes in the reanalysis of publicly‐funded
clinical exome sequencing data in Ontario, Canada. In partnership with eight sites, we …

Partial duplications of genes can be challenging to detect and interpret and, therefore, likely
represent an underreported cause of human disease. X-linked dominant variants in ATRX …

Background Intellectual Disability (ID) is among the most common global disorders, yet etiology
is unknown in ~30% of patients despite clinical assessment. Whole genome sequencing …