Publications

Please find summaries of written reports of studies our researchers have contributed to. To view the entire scientific paper, please follow the links provided or email us for a copy of the research article of interest. 

Brief Report: Evaluating the Diagnostic Yield of Commercial Gene Panels in Autism

 Effective clinical diagnostics for neurodevelopmental conditions could have beneficial psychiatric and medical implications for autistic individual’s and their families. Candidate genetic variations suggested to increase one’s likelihood of autism does not apply to all autism cases. This results in the prospect of efficient diagnostics for autism being limited due to the extensive degree of both genotypic and phenotypic heterogeneity. Ní Ghrálaigh et al evaluate how marketed applications for autism diagnostics are limited due to the lack of standardized curation of gene-condition relationships in findings from research groups. To read more about their conclusions about the clinical utility of these gene panels, please read this research article. 

How does genetic variation modify ND-CNV phenotypes?

This opinion article explores the current outstanding questions surrounding the clinical genomics of variants called copy number variants (CNVs) in those that carrier genetic variants that are related to neurodevelopment. Dinneen et al., discuss how common and rare types of risk variants may contribute to the varied traits and clinical outcomes associated with neurodevelopmental conditions. For more about integrated genetic variant approaches, the clinical interpretation of genetic variants and challenges in relation to future clinical translation, please follow the link below to read this recently published article.

Autism spectrum disorder genomics:
The progress and potential of genomic
technologies

As researchers are now capable of recording genomic information in the form of data, there is evidence that there is a genetic basis for neurodevelopmental conditions such as autism. This scientific paper discusses the genetic basis of autism, the progress of autism studies using genomic technologies and why these technologies are important for clinical and healthcare research.

Please contact us if you would like access to the entire paper.