Marguerite Miguet

TL;DR: De novo missense variants explained a larger proportion of individuals in the series than in other series that were primarily ascertained because of ID, indicating that the genetic landscape of DEE might be different from that of ID without epilepsy.

TL;DR: MTM1 mutations in carrier females define a specific myopathy, which may be independent of the presence of an XLMTM male in the family, as well as illustrating the spectrum of possible evolution of the disease in patients surviving long term.

TL;DR: Findings show that biallelic variants in the master transcription factor PAX7 cause a new type of myopathy that specifically affects satellite cell survival.

TL;DR: Findings strongly suggest that telomere dysfunction plays a central role in the formation of this specific unbalanced chromosome rearrangement via chromosome end-to-end fusion and breakage–fusion–bridge cycles.

TL;DR: It is indicated that defective WNT7B function underlies a form of lung hypoplasia that is associated with the PDAC syndrome, and evidence for involvement of the WNT–β-catenin pathway in human lung, tracheal, ocular, cardiac, and renal development is provided.