Germline gain-of-function mutations in AFF4 cause a developmental syndrome functionally linking the super elongation complex and cohesin

Regulation of RNA polymerase II activation by histone acetylation in single living cells

(2014) Timothy J. Stasevich et al.   NATURE

The Scc2–Scc4 complex acts in sister chromatid cohesion and transcriptional regulation by maintaining nucleosome-free regions

(2014) Lidia Lopez-Serra et al.   NATURE GENETICS

DROMPA: easy-to-handle peak calling and visualization software for the computational analysis and validation of ChIP-seq data

(2013) Ryuichiro Nakato et al.   GENES TO CELLS

Recurrent mutations in multiple components of the cohesin complex in myeloid neoplasms

(2013) Ayana Kon et al.   NATURE GENETICS

RNA-Guided Human Genome Engineering via Cas9

(2013) P. Mali et al.   SCIENCE

Genome-Wide Control of RNA Polymerase II Activity by Cohesin

(2013) Cheri A. Schaaf et al.   PLoS Genetics

TopHat2: accurate alignment of transcriptomes in the presence of insertions, deletions and gene fusions

(2013) Daehwan Kim et al.   GENOME BIOLOGY

RAD21 Mutations Cause a Human Cohesinopathy

(2012) Matthew A. Deardorff et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Dynamic phosphorylation patterns of RNA polymerase II CTD during transcription

(2012) Martin Heidemann et al.   Biochimica et Biophysica Acta-Gene Regulatory Mechanisms

Transcription elongation factors DSIF and NELF: Promoter-proximal pausing and beyond

(2012) Yuki Yamaguchi et al.   Biochimica et Biophysica Acta-Gene Regulatory Mechanisms

A unique role of cohesin-SA1 in gene regulation and development

(2012) Silvia Remeseiro et al.   EMBO JOURNAL

Cohesin-SA1 deficiency drives aneuploidy and tumourigenesis in mice due to impaired replication of telomeres

(2012) Silvia Remeseiro et al.   EMBO JOURNAL

A program for annotating and predicting the effects of single nucleotide polymorphisms, SnpEff

(2012) Pablo Cingolani et al.   FLY

Regulation of AMP-activated Protein Kinase Signaling by AFF4 Protein, Member of AF4 (ALL1-fused Gene from Chromosome 4) Family of Transcription Factors, in Hypothalamic Neurons

(2012) Tadasuke Komori et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Droplet Digital™ PCR quantitation of HER2 expression in FFPE breast cancer samples

(2012) Nicholas J. Heredia et al.   METHODS

The Super Elongation Complex Family of RNA Polymerase II Elongation Factors: Gene Target Specificity and Transcriptional Output

(2012) Z. Luo et al.   MOLECULAR AND CELLULAR BIOLOGY

HDAC8 mutations in Cornelia de Lange syndrome affect the cohesin acetylation cycle

(2012) Matthew A. Deardorff et al.   NATURE

De novo mutations revealed by whole-exome sequencing are strongly associated with autism

(2012) Stephan J. Sanders et al.   NATURE

Differential analysis of gene regulation at transcript resolution with RNA-seq

(2012) Cole Trapnell et al.   NATURE BIOTECHNOLOGY

Dynamic transcriptional events in embryonic stem cells mediated by the super elongation complex (SEC)

(2011) C. Lin et al.   GENES & DEVELOPMENT

A single administration of morpholino antisense oligomer rescues spinal muscular atrophy in mouse

(2011) Paul N. Porensky et al.   HUMAN MOLECULAR GENETICS

Genetic and Genomic Analyses of RNA Polymerase II-pausing Factor in Regulation of Mammalian Transcription and Cell Growth

(2011) Jianlong Sun et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations

(2011) Brian J O'Roak et al.   NATURE GENETICS

A framework for variation discovery and genotyping using next-generation DNA sequencing data

(2011) Mark A DePristo et al.   NATURE GENETICS

AFF4, a Component of the ELL/P-TEFb Elongation Complex and a Shared Subunit of MLL Chimeras, Can Link Transcription Elongation to Leukemia

(2010) Chengqi Lin et al.   MOLECULAR CELL

Mediator and cohesin connect gene expression and chromatin architecture

(2010) Michael H. Kagey et al.   NATURE

Cornelia de Lange syndrome, cohesin, and beyond

(2009) J Liu et al.   CLINICAL GENETICS

Transcriptional Dysregulation in NIPBL and Cohesin Mutant Human Cells

(2009) Jinglan Liu et al.   PLOS BIOLOGY

Ultrafast and memory-efficient alignment of short DNA sequences to the human genome

(2009) Ben Langmead et al.   GENOME BIOLOGY

Cohesin mediates transcriptional insulation by CCCTC-binding factor

(2008) Kerstin S. Wendt et al.   NATURE