The discovery of the association between HLA in the major histocompatibility complex
(MHC) on chromosome 6p21 with type 1 diabetes, but not with type 2 diabetes, suggested …

Long non-coding RNAs (lncRNAs) interact with the nuclear architecture and are involved in
fundamental biological mechanisms, such as imprinting, histone-code regulation, gene …

The vast non-coding portion of the human genome is full of functional elements and disease-
causing regulatory variants. The principles defining the relationships between these …

Gene expression during development and differentiation is regulated in a cell-and stage-
specific manner by complex networks of intergenic and intragenic cis-regulatory elements …

Type 2 diabetes is a genetically heterogeneous disease, with several relatively rare
monogenic forms and a number of more common forms resulting from a complex interaction …

We report evidence for a mechanism for the maintenance of long-range conserved synteny
across vertebrate genomes. We found the largest mammal-teleost conserved chromosomal …

Aligning and comparing genomic sequences enables the identification of conserved
sequence signatures and can enrich for coding and noncoding functional regions. In …

Although prostate cancer typically runs an indolent course, a subset of men develop
aggressive, fatal forms of this disease. We hypothesize that germline variation modulates …

We demonstrate an integrated approach to the study of a transcriptional regulatory cascade
involved in the progression of breast cancer and we identify a protein associated with …

The involvement of SOX9 in congenital skeletal malformation was demonstrated 15 years
ago with the identification of mutations in and around the gene in patients with campomelic …