Helena Ayyub

Transcription of antisense RNA leading to gene silencing and methylation as a novel cause of human genetic disease

Cristina Tufarelli, Jackie A Sloane Stanley, David Garrick et al. · Nature Genetics · 2003 · 541 citations

Genetic Diseases, Antisense Rna, Novel Cause +10

Mutations in ATRX, encoding a SWI/SNF-like protein, cause diverse changes in the pattern of DNA methylation

Richard J. Gibbons, Tarra L. McDowell, Sundhya Raman et al. · Nature Genetics · 2000 · 490 citations

Chromatin, Somatic Variant, Medicine +10

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

Genetic dissection of the α-globin super-enhancer in vivo

Deborah Hay, Jim R. Hughes, Christian Babbs et al. · Nature Genetics · 2016 · 402 citations · Full text

Genetic Disorder, Genetics, Genetic Dissection +2

A major positive regulatory region located far upstream of the human alpha-globin gene locus.

Douglas R. Higgs, W. G. Wood, Andrew P. Jarman et al. · Genes & Development · 1990 · 347 citations · Full text

Knockout Mouse, Transcriptional Regulation, Immunogenetics +12