Jonathan Rodgers

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: In this article, the variant spectrum and the phenotype of X-linked Kabuki syndrome type 2 (KS2) are poorly understood and the variability of the KS2 phenotypic depends on sex and the variant type.

TL;DR: In this paper, the authors devise standardized practices for polymerase chain reaction (PCR)-based RNA diagnostics using clinically accessible specimens (blood, fibroblasts, urothelia, biopsy).

TL;DR: In this article , the authors assessed "genomic autopsy" as an adjunct to standard autopsy for 200 families who had experienced fetal or newborn death, providing a definitive or candidate genetic diagnosis in 105 families.

TL;DR: The utility of CMA was demonstrated in epilepsy patients seen by adult neurologists as was the importance of considering mosaicism for previously undiagnosed patients and the impact on management in a cohort with drug-resistant epilepsy.