Author

K. Devriendt

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Aug 2026

Cell-free DNA fragmentome analysis informs pregnancy outcome in patients with immune-mediated disease.

Pregnancy complications contribute substantially to maternal and fetal morbidity and mortality. If complications are suspected early in pregnancy, individuals could be triaged to escalate care and ideally reduce adverse outcomes. However, clinical risk factors are poor predictors early in gestation. Cell-free DNA (cfDN...

Kate E. Stanley, L. Lannoo, E. Souche et al. · Science Translational Medici... · 1 citation

Open access Aug 2026

An episignature informed systematic analysis to ascertain the clinical significance and consequences of CHD8 missense variants.

It is shown that determining the clinical significance of CHD8 MVs is challenging, even with detailed clinical information, but that incorporating episignature analysis increases diagnostic yield and will improve the diagnosis and understanding of CHD8-related disorders.

Molly Godfrey, Michael A. Levy, Christopher Campbell et al. · European Journal of Human Ge... · 0 citations

Open access Jul 2026

Copy number variant analysis by exome sequencing is an effective approach to optimize diagnostic yield for developmental disorders-the DDD-Africa study.

The addition of CNV analysis to the ES analysis pipeline resulted in an 8.1% increase in diagnostic yield in the DDD-Africa cohort without additional laboratory cost, which is likely to reduce analytical cost and is suitable for low- and middle-income countries where funding and resources for genomic medicine initiativ...

Nadja Louw, Prince Makay, P. Mpangase et al. · European Journal of Human Ge... · 0 citations