Joy Samanich

Germline gain-of-function mutations in AFF4 cause a developmental syndrome functionally linking the super elongation complex and cohesin

Case report · Nature Genetics · 2015 · 119 citations

Mutations in GJB2, GJB6, and mitochondrial DNA are rare in African American and Caribbean Hispanic individuals with hearing impairment

American Journal of Medical Genetics Part A · 2007 · First of 7 authors · 48 citations