Karen M. Lower

Mutations in the human ortholog of Aristaless cause X-linked mental retardation and epilepsy

Petter Strømme, Marie Mangelsdorf, Marie Shaw et al. · Nature Genetics · 2002 · 431 citations

Developmental Anomaly, Developmental Biology, Mendelian Disorder +7

ATR-X Syndrome Protein Targets Tandem Repeats and Influences Allele-Specific Expression in a Size-Dependent Manner

Martin J. Law, Karen M. Lower, Hsiao P. J. Voon et al. · Cell · 2010 · 414 citations · Full text

Size-dependent Manner, Allelic Variant, Mendelian Disorder +11

Mutations in PHF6 are associated with Börjeson–Forssman –Lehmann syndrome

Karen M. Lower, Gillian Turner, Bronwyn Kerr et al. · Nature Genetics · 2002 · 214 citations

Börjeson–forssman –Lehmann Syndrome, Mendelian Disorder, Genetic Disorder +6

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

Vip Viprakasit, Supachai Ekwattanakit, Suchada Riolueang et al. · Blood · 2014 · 91 citations

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

Karen M. Lower, Jim R. Hughes, Marco De Gobbi et al. · Proceedings of the National Academy of Sciences · 2009 · 89 citations · Full text

Nme4 Expression, Genetics, Genomic Mechanism +21