The clinical understanding of the CDKL5 disorder remains limited, with most information
being derived from small patient groups seen at individual centres. This study uses a large …

Phenylketonuria (PKU) is an inborn error of metabolism of the amino acid phenylalanine. It
is an autosomal recessive disorder with a rate of incidence of 1 in 10,000 in Caucasian …

Despite the increasing diagnostic rate of genomic sequencing, the genetic basis of more
than 50% of heritable kidney disease remains unresolved. Kidney organoids differentiated …

Rett syndrome (RTT) is an X‐linked progressive neurodevelopmental disorder that primarily
affects females. Mutations in the MECP2 gene have been attributed as the major genetic …

Congenital cataracts are a significant cause of lifelong visual loss. They may be isolated or
associated with microcornea, microphthalmia, anterior segment dysgenesis (ASD) and …

Sharing genomic variant interpretations across laboratories promotes consistency in variant
assertions. A landscape analysis of Australian clinical genetic-testing laboratories in 2017 …

Purpose Genetic variants causing aberrant premessenger RNA splicing are increasingly
being recognized as causal variants in genetic disorders. In this study, we devise …

Riboflavin, or vitamin B2, is a precursor to flavin adenine dinucleotide (FAD) and flavin
mononucleotide (FMN) molecules, required in biological oxidation‐reduction reactions. We …

Background In this study, we tested the effects of three different coping strategies (ie
problem‐focused, emotion‐focused and relationship‐focused coping) on both positive and …

Inherited kidney disease encompasses a broad range of disorders, with both multiple genes
contributing to specific phenotypes and single gene defects having multiple clinical …