Robert Schöpflin

Enhancer adoption by an LTR retrotransposongenerates viral-like particles causingdevelopmental limb phenotypes

The paper shows that activation of an LTR retrotransposon in the embryo leads to viral-like particle production, causing limb malformations through apoptotic cell death.

Temporal misexpression of En1 during limb development causes distinct phenotypes

The study identifies two enhancer elements that maintain En1 expression during later limb development and shows that misexpression timing leads to distinct phenotypes.

Combinatorial effects on gene expression at the Lbx1/Fgf8 locus resolve Split-Hand/Foot Malformation type 3

The paper investigates how genomic rearrangements at the Lbx1/Fgf8 locus cause SHFM3 by altering chromatin structure and gene expression in mice.

Distal and proximal cis-regulatory elements sense X-chromosomal dosage and developmental state at the Xist locus

The paper identifies distal and proximal cis-regulatory elements that respond to X-chromosomal dosage and developmental state to regulate Xist expression during XCI in mouse embryonic stem cells.

Promoter repression and 3D-restructuring resolves divergent developmental gene expression in TADs

The paper shows that divergent gene expression within TADs is resolved through TAD restructuring and DNA methylation, not enhancer-promoter compatibility or position.

CRUP: A comprehensive framework to predict condition-specific regulatory units

CRUP predicts condition-specific regulatory units by analyzing histone modification ChIP-seq data and linking enhancers to target genes in rheumatoid arthritis.

Preformed Chromatin Topology Assists TranscriptionalRobustness of Shh during Limb Development

The paper shows that preformed chromatin topology supports robust Shh transcription during limb development, with CTCF and ZRS alleles influencing enhancer-promoter communication.

Functional dissection of TADs reveals non-essential and instructive roles in regulating gene expression

The paper investigates TAD function in mice by editing TAD organization, finding that TADs provide robustness but are not essential for gene regulation, and that disease phenotypes arise from re-direction of regulatory contacts.