Adventitious changes in long-range gene expression caused by polymorphic structural variation and promoter competition

by Karen M. Lower, Jim R. Hughes, Marco De Gobbi, Shirley Henderson, Vip Viprakasit, Chris Fisher, Anne Goriely, Helena Ayyub, Jackie Sloane-Stanley, Douglas Vernimmen, Cordelia Langford, David Garrick, Richard J. Gibbons, Douglas R. Higgs
Published 2018

Mutations in Krüppel-like factor 1 cause transfusion-dependent hemolytic anemia and persistence of embryonic globin gene expression

by Vip Viprakasit, Supachai Ekwattanakit, Suchada Riolueang, Nipon Chalaow, Chris Fisher, Karen Lower, Hitoshi Kanno, Kalaya Tachavanich, Sasithorn Bejrachandra, Jariya Saipin, Monthana Juntharaniyom, Kleebsabai Sanpakit, Voravarn S. Tanphaichitr, Duantida Songdej, Christian Babbs, Richard J. Gibbons, Sjaak Philipsen, Douglas R. Higgs
Published 2018

A regulatory SNP causes a human genetic disease by creating a new transcriptional promoter

by Marco De Gobbi, Vip Viprakasit, Jim R. Hughes, Chris Fisher, Veronica J. Buckle, Helena Ayyub, Richard J. Gibbons, Douglas Vernimmen, Yuko Yoshinaga, Pieter De Jong, Jan Fang Cheng, Edward M. Rubin, William G. Wood, Don Bowden, Douglas R. Higgs
Published 2018

ATR-X syndrome protein targets tandem repeats and influences allele-specific expression in a size-dependent manner

by Martin J. Law, Karen M. Lower, Hsiao P.J. Voon, Jim R. Hughes, David Garrick, Vip Viprakasit, Matthew Mitson, Marco De Gobbi, Marco Marra, Andrew Morris, Aaron Abbott, Steven P. Wilder, Stephen Taylor, Guilherme M. Santos, Joe Cross, Helena Ayyub, Steven Jones, Jiannis Ragoussis, Daniela Rhodes, Ian Dunham, Douglas R. Higgs, Richard J. Gibbons
Published 2018