Publications by authors named "J Liebelt"
Background: Genomic sequencing technology allows for identification of reproductive couples with an increased chance, as compared with that in the general population, of having a child with an autosomal recessive or X-linked genetic condition.
Methods: We investigated the feasibility, acceptability, and outcomes of a nationwide, couple-based genetic carrier screening program in Australia as part of the Mackenzie's Mission project. Health care providers offered screening to persons before pregnancy or early in pregnancy.
Article Synopsis
- * The study identifies RNU4-2, a non-coding RNA gene, as a significant contributor to syndromic NDD, revealing a specific 18-base pair region with low variation that includes variants found in 115 individuals with NDD.
- * RNU4-2 is highly expressed in the developing brain, and its variants disrupt splicing processes, indicating that non-coding genes play a crucial role in rare disorders, potentially aiding in the diagnosis of thousands with NDD worldwide.
Around 60% of individuals with neurodevelopmental disorders (NDD) remain undiagnosed after comprehensive genetic testing, primarily of protein-coding genes. Increasingly, large genome-sequenced cohorts are improving our ability to discover new diagnoses in the non-coding genome. Here, we identify the non-coding RNA as a novel syndromic NDD gene.
View Article and Find Full Text PDFBackground: Trio exome sequencing can be used to investigate congenital abnormalities identified on pregnancy ultrasound, but its use in an Australian context has not been assessed.
Aims: Assess clinical outcomes and changes in management after expedited genomic testing in the prenatal period to guide the development of a model for widespread implementation.
Materials And Methods: Forty-three prospective referrals for whole exome sequencing, including 40 trios (parents and pregnancy), two singletons and one duo were assessed in a tertiary hospital setting with access to a state-wide pathology laboratory.