Erika L. Souche

Population differences of chromosome 22q11.2 duplication structure predispose differentially to microdeletion and inversion.

The paper analyzes chromosome 22q11.2 haplotypes to show how structural variations in specific regions correlate with microdeletion and inversion risks across populations.

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.

The N-glycosylation defect in Lec5 and Lec9 CHO cells is caused by absence of the DHRSX gene

This study identifies DHRSX gene absence as the cause of dolichol synthesis defect in Lec5 and Lec9 CHO cells, correcting N-glycosylation defects through DHRSX complementation.

Nanopore sequencing-based episignature detection

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

Multiple paralogues and recombination mechanisms drive the high incidence of 22q11.2 Deletion Syndrome

The paper investigates the mechanisms behind the high incidence of 22q11.2 deletion syndrome by analyzing recombination events and paralogous structures in LCR22 regions.