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Diagnostic and service impact of genomic testing technologies in a neonatal intensive care unit

scientific article published on 12 February 2019

Evaluating systematic reanalysis of clinical genomic data in rare disease from single center experience and literature review

scientific article published on 23 September 2020

Lessons learnt from multifaceted diagnostic approaches to the first 150 families in Victoria’s Undiagnosed Diseases Program

artículo científico publicado en 2021

Recurrent <i>de novo</i> missense variants in <i>GNB2</i> can cause syndromic intellectual disability

artículo científico publicado en 2021

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