Stephanie L. Sherman

Complete chromosome 21 centromere sequencing of families with Down syndrome reveals centromere size asymmetry

The paper sequences chromosome 21 centromeres in Down syndrome families, finding extreme size asymmetry in some cases and suggesting it may be a genetic risk factor.

Genome-wide association studies of Down syndrome associated congenital heart defects

This study performs genome-wide association analyses of congenital heart defects in Down syndrome, identifying suggestive loci associated with specific heart defect subtypes.

Latent class analysis identifies distinctive behavioral subtypes in children with fragile X syndrome

The paper uses latent class analysis to identify distinct behavioral subtypes in children with fragile X syndrome, revealing clinically meaningful groups with unique cognitive and behavioral profiles.

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.