Associated Papers
NIPBL+/- haploinsufficiency reveals a constellation of transcriptome disruptions in the pluripotent and cardiac states.
Mills JA et al.
Scientific Reports, 2018
Germline gain-of-function mutations in AFF4 cause a developmental syndrome functionally linking the super elongation complex and cohesin.
Izumi K et al.
Nature Genetics, 2015
Transcriptional dysregulation in NIPBL and cohesin mutant human cells.
Liu J et al.
Plos Biology, 2009
19468298 (PubMed )
Supplement: pbio.1000119.s005.pdf
NIPBL mutational analysis in 120 individuals with Cornelia de Lange syndrome and evaluation of genotype-phenotype correlations.
Gillis LA et al.
American Journal of Human Genetics, 2004
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