Sheona Watson-Scales

Hippocampal circuit-specific enhancement of GABA-inhibition caused by discrete gene regions in a Down syndrome model

The paper investigates GABA inhibition in Down syndrome mouse models, finding circuit-specific increases in inhibition in the dentate gyrus due to gene dosage effects.

DYRK1A kinase triplication is the major cause of Otitis Media in Down Syndrome

The paper identifies DYRK1A triplication as the major cause of otitis media in Down syndrome by using mouse models and shows that normalizing its dosage restores the wild-type phenotype.

Congenital heart defects in Down syndrome are caused by increased dosage of DYRK1A

The paper shows increased DYRK1A dosage causes mitochondrial dysfunction and congenital heart defects in Down syndrome, which can be mitigated by a DYRK1A inhibitor.

Craniofacial dysmorphology in Down Syndrome is caused by increased dosage of Dyrk1a and at least three other genes

The paper identifies four Hsa21-orthologous genes, including Dyrk1a, that cause craniofacial dysmorphology in Down syndrome mouse models by reducing neural crest cell proliferation.

Comprehensive phenotypic analysis of the Dp1Tyb mouse strain reveals a broad range of Down Syndrome-related phenotypes

The paper phenotypes Dp1Tyb mice, a Down syndrome model, and identifies multiple DS-like traits including cognitive and physical abnormalities.