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A clinically driven variant prioritization framework outperforms purely computational approaches for the diagnostic analysis of singleton WES data.

artículo científico publicado en 2017

A head-to-head evaluation of the diagnostic efficacy and costs of trio versus singleton exome sequencing analysis

scientific article published on 18 July 2019

A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders

artículo científico publicado en 2016

Diagnostic Impact and Cost-effectiveness of Whole-Exome Sequencing for Ambulant Children With Suspected Monogenic Conditions.

artículo científico publicado en 2017

Exome sequencing has higher diagnostic yield compared to simulated disease-specific panels in children with suspected monogenic disorders.

artículo científico publicado en 2018

From Expectations to Experiences: Consumer Autonomy and Choice in Personal Genomic Testing

artículo científico publicado en 2019

Offering and Returning Secondary Findings in the Context of Exome Sequencing for Hearing Loss: Clinicians’ Views and Experiences

scientific article published in 2023

Readiness of clinical genetic healthcare professionals to provide genomic medicine: An Australian census

scientific article published on 19 February 2019

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