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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

Attitudes of Australian health professionals towards rapid genomic testing in neonatal and paediatric intensive care

scientific article published on 31 May 2019

Biallelic Variants in PYROXD2 Cause a Severe Infantile Metabolic Disorder Affecting Mitochondrial Function

artículo científico publicado en 2022

Early diagnosis of Pearson syndrome in neonatal intensive care following rapid mitochondrial genome sequencing in tandem with exome sequencing

scientific article published on 29 July 2019

Epigenetic evidence of an Ac/Dc axis by VPA and SAHA

artículo científico publicado en 2021

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

artículo científico publicado en 2018

Exome sequencing in infants with congenital hearing impairment: a population-based cohort study

scientific article published on 12 December 2019

Intratumorous heterogeneity for RAS mutations in a treatment-naïve colorectal tumour.

artículo científico publicado en 2017

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