Gene Regulatory Sequences and Human Disease

Gene regulatory elements.- The Hemoglobin regulatory regions.- Regulatory polymorphisms and osteoporosis.- Gene regulation in Van Buchem disease.- Cis-regulatory enhancer mutations are a cause of human limb malformations.- Regulatory mutations leading to cleft lip and palate.- Cis-regulatory disruption at the SOX9 locus as a cause of Pierre Robin Sequence.- Regulatory mutations in human hereditary deafness.- The contributions of RET non-coding variation to Hirschprung disease.- Cis-regulatory variation and cancer.- Cohesin and human diseases.- Epigenetics and human disease.- Index.