Aziza Lebbar

TL;DR: In this article, the ability of optical genome mapping (OGM) to detect known constitutional chromosomal aberrations was investigated, including seven aneuploidies, 19 deletions, 20 duplications, 34 translocations, six inversions, two insertions, six isochromosomes, one ring chromosome, and four complex rearrangements.

TL;DR: Next-generation sequencing used to characterise breakpoints of balanced chromosomal rearrangements at the molecular level in patients with intellectual disability and/or congenital anomalies suggested that DNA breaks arose randomly and that there was no major influence of repeated elements.

TL;DR: This study shows that 16p13.11 microduplications are likely pathogenic when detected in the context of DD/ID/ASD and supports an essential role of NDE1 and miR-484 in the neurocognitive phenotype and suggests the need for cardiac evaluation and follow-up and a large study to evaluate the aortic disease risk.

TL;DR: Gene expression analyses lending evidence to the hypothesis that HDAC4 modulates severity of this disorder in a dosage‐dependent manner and a parent with mild symptoms of the disorder and a child exhibiting a more severe phenotype.

TL;DR: This prospective and multi-centric study confirms the accuracy and the limitations of interphase FISH and shows that any cytogenetics laboratory can perform this technique and thinks that an aberrant FISH result can be used for a clinical decision when it is associated with a corresponding abnormal ultrasound scan.