Mathilde Geysens

A nationwide prospective randomized trial for diagnosing developmental disorders demonstrates genome sequencing outperforms standard of care.

A randomized trial compares genome sequencing to standard of care in diagnosing developmental disorders, finding higher diagnostic yield with genome sequencing.

Long-read whole-genome sequencing-based concurrent haplotyping and aneuploidy profiling of single cells

This study demonstrates that long-read whole-genome sequencing can accurately haplotype and detect aneuploidies in single cells, offering an alternative to current preimplantation genetic testing methods.

Nanopore sequencing-based episignature detection

This study demonstrates that nanopore sequencing can detect episignatures in developmental disorders, matching microarray results and identifying pathogenic variants.