BibTex format

author = {Miguel, Escalada I and Pasquali, L and Ferrer, J},
doi = {10.1016/j.gde.2015.08.009},
journal = {Current Opinion in Genetics & Development},
pages = {71--76},
title = {Transcriptional enhancers: functional insights and role in human disease},
url = {},
volume = {33},
year = {2015}

RIS format (EndNote, RefMan)

AB - In recent years, studies of cis-regulatory mechanisms have evolved from a predominant focus on promoter regions to the realization that spatial and temporal gene regulation is frequently driven by long-range enhancer clusters that operate within chromosomal compartments. This increased understanding of genome function, together with the emergence of technologies that enable whole-genome sequencing of patients’ DNAs, open the prospect of dissecting the role of cis-regulatory defects in human disease. In this review we discuss how recent epigenomic studies have provided insights into the function of transcriptional enhancers. We then present examples that illustrate how integrative genomics can help uncover enhancer sequence variants underlying Mendelian and common polygenic human disease.
AU - Miguel,Escalada I
AU - Pasquali,L
AU - Ferrer,J
DO - 10.1016/j.gde.2015.08.009
EP - 76
PY - 2015///
SN - 0959-437X
SP - 71
TI - Transcriptional enhancers: functional insights and role in human disease
T2 - Current Opinion in Genetics & Development
UR -
UR -
VL - 33
ER -