Author

H. Scott

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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

Open access Oct 2026

Systematic evaluation of incomplete penetrance in 4,325 rare disease families reveals divergent transcriptional networks in CHD8 pathology

Abstract INTRODUCTION Despite major advances in genomic sequencing and analytical pipelines for rare disorders, more than 50% of affected individuals remain without a molecular diagnosis. One challenge is the interpretation of inherited variants exhibiting incomplete penetrance (IP). MATERIALS AND METHODS We developed...

M. Singh, S. Stenton, E. Groopman et al. · medRxiv · 0 citations