Publications by authors named "Melissa Ellul"
Sharing genomic variant interpretations across laboratories promotes consistency in variant assertions. A landscape analysis of Australian clinical genetic-testing laboratories in 2017 identified that, despite the national-accreditation-body recommendations encouraging laboratories to submit genotypic data to clinical databases, fewer than 300 variants had been shared to the ClinVar public database. Consultations with Australian laboratories identified resource constraints limiting routine application of manual processes, consent issues, and differences in interpretation systems as barriers to sharing.
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- - The Tenascin-XB gene (TNXB) is often associated with classical-like Ehlers-Danlos syndrome (clEDS) due to mutations that affect its function, leading to collagen issues.
- - A unique case is presented involving a patient with clEDS who also experienced spontaneous pneumothorax, a condition not previously linked to this syndrome, indicating a possible connection.
- - The study identifies two harmful genetic variants and suggests that the deficiency of tenascin-X may play a role in increasing the risk for pneumothorax, thereby broadening the understanding of clEDS symptoms and diagnostic challenges.