Roger H. Reeves

Overexpression screen of chromosome 21 genes reveals modulators of Sonic hedgehog signaling relevant to Down syndrome

The paper identifies multiple chromosome 21 genes that modulate Sonic hedgehog signaling, which is dysregulated in Down syndrome.

A Mouse Model with Complete Penetrance for Atrioventricular Septal Defect/Complete AV Canal

This paper describes a mouse model with 100% penetrance of AVSD by introducing conditional SHH pathway mutations in a trisomic DS model.

The first transchromosomic rat model with human chromosome 21 shows robust Down syndrome features

The paper develops a transchromosomic rat model with human chromosome 21 that exhibits key Down syndrome features and provides a tool for DS research and drug development.

Forebrain Shh overexpression improves cognitive function in a Down syndrome mouse model and euploid littermates

This study shows that overexpressing Shh in the forebrain of Down syndrome mice improves cognitive function, while cerebellar Shh overexpression does not.

A non-mosaic humanized mouse model of Down syndrome, trisomy of the long arm of human chromosome 21 in mouse chromosome background

This paper describes a new non-mosaic humanized mouse model of Down syndrome with a nearly complete copy of the long arm of human chromosome 21.

Survey of human chromosome 21 gene expression effects on early development in Danio rerio

The paper screens Hsa21 gene overexpression in zebrafish to study dosage-sensitive effects on early development and identify potential contributors to Down syndrome pathology.

Analysis of copy number variants on chromosome 21 in Down syndrome-associated congenital heart defects

This study investigates the association between copy number variants on chromosome 21 and congenital heart defects in Down syndrome, finding no direct link but suggesting ethnic differences in CNV patterns.