Maria Kibaek

TL;DR: Genotype-phenotype analysis confirmed that ZFHX1B deletions and stop mutations result in a recognizable facial dysmorphism with associated severe mental retardation and variable malformations such as Hirschsprung disease and congenital heart defects and indicates that structural eye anomalies such as microphthalmia should be considered as part of the MWS spectrum.

TL;DR: Five individuals with coloboma, microcephaly, developmental delay, short stature, and craniofacial, cardiac, and renal defects who harbor overlapping microdeletions on 8q24.3 are reported on to demonstrate how CNVs can exhibit complex genetic architecture.

TL;DR: The role of SLC2A1 mutations in absence epilepsy with early onset is confirmed and the notion that SLC1A1 aberrations are a cause of MAE without associated features such as movement disorders is failed to support.

TL;DR: It is confirmed that de novo SMC3 mutations account for ∼1%–2% of CdLS‐like phenotypes, and modeling of the mutation effects on protein structure suggests a dominant‐negative effect on the multimeric cohesin complex.

TL;DR: The cause of a neurodegenerative syndrome linked to snRNA maturation is identified and a key factor involved in the processing of snRNA 3′ ends is uncovered.