To determine if a variant identified by diagnostic genetic testing is causal for disease, applied genetics professionals evaluate all available evidence to assign a clinical classification. Experimental assay data can provide strong functional evidence for or against pathogenicity in variant classification, but appears to be underutilised. We surveyed genetic diagnostic professionals in Australasia to assess their application of functional evidence in clinical practice.
View Article and Find Full Text PDFJ Interpers Violence
December 2024
This paper examines the meaning of violence in contemporary Western societies. Scholars have argued that in contemporary Western societies, the concept is expanding toward a broader understanding of violence, beyond its "traditional" usage in the context of crime and war. The current paper aims to generate empirical evidence that speaks to this question.
View Article and Find Full Text PDFObjective: To analyze cases of medial migration of vestibular schwannomas to propose an underlying mechanism.
Study Design: Retrospective chart review.
Patients: Ten patients from one institution with sporadic vestibular schwannomas that demonstrated medial migration toward the cerebellopontine angle on serial imaging were reviewed.
Purpose: The purpose is to examine perceptions of pity directed toward people with disabilities to gain a deeper understanding of the effect of these perceptions on the employment success of people with disabilities and to provide direction to disability-related training and strategic planning in the workplace.
Methods: Two studies were developed to explore these relationships. The first measured the characteristics most frequently associated with people with disabilities in the workplace.