Friedreich ataxia, an autosomal recessive neurodegenerative disease, is the most common
of the inherited ataxias. The recent discovery of the gene that is mutated in this condition …

Abstract β-thalassaemia is one of the most common single-gene inherited conditions in the
world, and thalassaemia carrier screening is the most widely performed genetic screening …

Friedreich ataxia, the most common hereditary ataxia, affects approximately 1 per 29,000
white individuals. In about 98% of these individuals, it is due to homozygosity for a GAA …

Background Most persons who are homozygous for C282Y, the HFE allele most commonly
asssociated with hereditary hemochromatosis, have elevated levels of serum ferritin and …

Gene-disruptive mutations contribute to the biology of neurodevelopmental disorders
(NDDs), but most of the related pathogenic genes are not known. We sequenced 208 …

Autosomal dominant retinal vasculopathy with cerebral leukodystrophy is a microvascular
endotheliopathy with middle-age onset. In nine families, we identified heterozygous C …

Adult-onset cerebellar ataxias are a group of neurodegenerative conditions that challenge
both genetic discovery and molecular diagnosis. In this study, we identified an intronic (GAA) …

Importance Widespread adoption of rapid genomic testing in pediatric critical care requires
robust clinical and laboratory pathways that provide equitable and consistent service across …

Börjeson–Forssman–Lehmann syndrome (BFLS; OMIM 301900) is characterized by
moderate to severe mental retardation, epilepsy, hypogonadism, hypometabolism, obesity …

Objective Friedreich ataxia (FA) is a progressive genetic neurodegenerative disorder with no
approved treatment. Omaveloxolone, an Nrf2 activator, improves mitochondrial function …