Jean-Pierre Fryns

TL;DR: A large French family including members affected by nonspecific X-linked mental retardation, with or without autism or pervasive developmental disorder in affected male patients, has been found to have a 2-base-pair deletion in the Neuroligin 4 gene (NLGN4) located at Xp22.33.

TL;DR: In this article, a new array-based method allowed screening of genome-wide copy number and loss of heterozygosity in single cells, which revealed not only mosaicism for whole-chromosome aneuploidies and uniparental disomies in most cleavage-stage embryos but also frequent segmental deletions, duplications and amplifications that were reciprocal in sister blastomeres, implying the occurrence of breakage-fusion-bridge cycles.

TL;DR: It is demonstrated that, in humans, not only impaired or abolished gene function but also increased MeCP2 dosage causes a distinct phenotype, which justifies quantitative screening of MECP2 in this group of patients.

TL;DR: This study establishes that chromosome instability is also common during early human embryogenesis and identifies post-zygotic chromosome instability as a leading cause of constitutional chromosomal disorders.

TL;DR: The results demonstrate an association between cognitive impairment and a defect in a signalling pathway that depends on a Ras-like GTPase, which is known to affect cell migration and outgrowth of axons and dendrites in vivo.