Neural crest cells differentiated from patient-derived cells with mutations in the chromatin remodeler CHD7 show defective delamination, migration and motility in vitro, and defective migration in chick embryos.

Mutations in CHD7, which cause CHARGE syndrome, cause a reduction in FGF8 signalling and subsequent abnormalities in the cerebellar vermis in both mice and humans.

Chick optic fissure closure is a powerful new model system for epithelial fusion and has revealed Netrin-1 as a conserved and essential mediator of tissue fusion in multiple contexts.

Distinct intrinsic excitability and synaptic dysfunctions in specific cortical inhibitory circuits lead to abnormal network activity in a mouse model of Down syndrome.

Disruption of epoxide hydrolysis inducing oxidative stress and cellular senescence is a novel mechanism responsible for lipoatrophic monogenic diabetes.

Transgenic mice with Rett-causing mutations in MeCP2 reveal that a basic cluster in the C-terminus of the protein binds DNA and that both the methyl-CpG binding domain and the transcriptional repression domain are necessary to elicit toxicity in MECP2 duplication syndrome.

Innovative MRI mapping of the auditory pathway reveals that peripheral auditory structure significantly impacts the development of the central auditory-language network in children with profound sensorineural hearing loss, emphasizing the need for early speech input and tailored interventions.

A novel dynamic charge-charge interaction between B56 and a subset of PP2A-B56 substrates is essential for substrate specificity, dephosphorylation and, for KIF4A, binding condensin I.

Mutation E334Q in cytoskeletal γ-actin leads to impaired interaction of actin filaments with actin-binding proteins belonging to the myosin and ADF/cofilin families.