Natasha J Brown

TL;DR: This study suggests feasibility of ultra-rapid genomic testing in critically ill pediatric patients with suspected monogenic conditions in the Australian public health care system, however, further research is needed to understand the clinical value of such testing, and the generalizability of the findings to other health care settings.

TL;DR: The phenotype of 50 affected children are characterised, revealing callosal agenesis, cataracts, hypopigmentation, cardiomyopathy, immune dysfunction, developmental delay and microcephaly.

TL;DR: A de novo PCDH19 mutation in a sporadic female highlights that mutational analysis should be considered in isolated instances of girls with infantile onset seizures and developmental delay, in addition to those with the characteristic family history of EFMR.

TL;DR: Due to the overlapping clinical spectrum of both HPMRS and MCAHS in the majority of affected individuals, the elevation of AP and the reduced surface levels of GPI-linked markers in both groups, a common classification as GPIBDs is recommended.

TL;DR: Six novel KMT2A mutations are identified in six WSS patients, with four mutations occurring de novo, and some of the patients were initially diagnosed with atypical Kabuki syndrome, which is caused by mutations in KDM6A, genes also involved in histone methylation.