It is shown that G9a is required in insulin-producing cells (IPCs) and the fat body, in the latter during development, to ensure adult sleep integrity, and that a Drosophila sleep-restriction paradigm based on human sleep-restriction therapy can override the developmental defects and restore sleep continuity in adultho...
Mireia Coll-Tané, Lara V. van Renssen, Nicholas Raun et al.· bioRxiv· 0 citations
The MetaDome 2027 update is presented, featuring a comprehensively updated dataset and GRCh38 support and showing how MetaDome helped reclassify a de novo missense VUS in RALA and identify 52,463 ClinVar missense VUS for which meta-domains supply otherwise unavailable pathogenic evidence.
Laurens Wiel, F. Ferraro, Jay Yu et al.· bioRxiv· 0 citations
This represents the most comprehensive characterization to date of TRND, a novel neurodevelopmental disorder, defining its genotypic and phenotypic spectrum.
Sally Nijim, Mimi Kim, Melissa Denish et al.· Genetics in Medicine· 1 citation
A high prevalence of rare (mainly de novo) genetic variants in individuals with severe and sporadic DLD is revealed, and extensive molecular overlap with other neurodevelopmental disorders is demonstrated.
Milou G. P. Kennis, Leenke van Haaften, K. van Hulst et al.· European Journal of Human Ge...· 0 citations
