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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 cost-effectiveness analysis of genomic sequencing in a prospective versus historical cohort of complex pediatric patients

artículo científico publicado en 2020

A craniosynostosis massively parallel sequencing panel study in 309 Australian and New Zealand patients: findings and recommendations.

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

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