Author

S. Lunke

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Open access Sep 2026

The Australian PreGen Study: Results From Prospective Prenatal Exome Sequencing in 275 Pregnancies.

OBJECTIVE Prenatal exome sequencing (pES) is increasingly to standard care for diagnosing the etiology of fetal structural anomalies (FSA). We evaluated trio pES outcomes in the national multicentre, prospectively recruited Australian Government-funded cohort, including diagnostic yield, frequency of variants of uncert...

C. Rowntree, Gemma Fernihough, Sarah Long et al. · Prenatal Diagnosis · 0 citations

Review Open access Sep 2026

International experiences of genomic newborn screening: Lessons from over 10,800 newborns.

Genomic sequencing has the potential to transform newborn screening (NBS) for rare diseases but raises significant pragmatic, clinical, psychosocial, ethical, and policy issues. Evidence is urgently needed to guide policy as healthcare systems around the world contemplate implementation. In 2025, four major genomic NBS...

Zornitza Stark, S. Lunke, François Boemer et al. · American Journal of Human Ge... · 0 citations