Publications of Robert Schöpflin
All genres
Journal Article (15)
1.
Journal Article
140, pp. 1459 - 1469 (2021)
Complete lung agenesis caused by complex genomic rearrangements with neo-TAD formation at the SHH locus. Human Genetics 2.
Journal Article
Non-coding deletions identify Maenli lncRNA as a limb-specific En1 regulator. Nature (2021)
3.
Journal Article
2020 (11), 11:5823 (2020)
Enhancer hijacking determines extrachromosomal circular MYCN amplicon architecture in neuroblastoma. Nature Communications 4.
Journal Article
370 (6513), pp. 208 - 214 (2020)
The mole genome reveals regulatory rearrangements associated with adaptive intersexuality. Science 5.
Journal Article
106 (6), pp. 872 - 884 (2020)
Hi-C Identifies Complex Genomic Rearrangements and TAD-Shuffling in Developmental Diseases. The American Journal of Human Genetics 6.
Journal Article
20, 20:227 (2019)
CRUP: a comprehensive framework to predict condition-specific regulatory units. Genome Biology: Biology for the Post-Genomic Era 7.
Journal Article
51 (8), pp. 1263 - 1271 (2019)
Functional dissection of the Sox9-Kcnj2 locus identifies nonessential and instructive roles of TAD architecture. Nature Genetics 8.
Journal Article
2019, 528877 (2019)
Preformed Chromatin Topology Assists Transcriptional Robustness of Shh during Limb Development. bioRxiv (Preprint Server) 9.
Journal Article
21 (3), pp. 305 - 310 (2019)
Serial genomic inversions induce tissue-specific architectural stripes, gene misexpression and congenital malformations. Nature Cell Biology 10.
Journal Article
50 (10), pp. 1463 - 1473 (2018)
Dynamic 3D chromatin architecture determines enhancer specificity and morphogenetic identity in limb development. Nature Genetics 11.
Journal Article
50 (5), pp. 662 - 667 (2018)
Polymer physics predicts the effects of structural variants on chromatin architecture. Nature Genetics 12.
Journal Article
46 (6), pp. 2868 - 2882 (2018)
Genomic dissection of enhancers uncovers principles of combinatorial regulation and dynamic wiring of enhancer-promoter contacts. Nucleic Acids Research (London) 13.
Journal Article
45 (4), pp. 1805 - 1819 (2017)
Role of the chromatin landscape and sequence in determining cell type-specific genomic glucocorticoid receptor binding and gene regulation. Nucleic Acids Research (London) 14.
Journal Article
27 (2), pp. 223 - 233 (2017)
Characterization of hundreds of regulatory landscapes in developing limbs reveals two regimes of chromatin folding. Genome Research 15.
Journal Article
538 (7624), pp. 265 - 269 (2016)
Formation of novel chromatin domains determines pathogenicity of genomic duplications. Nature Conference Paper (2)
16.
Conference Paper
2015. Genome Regulation in 3D, Rehovot, Israel, June 28, 2015 - June 30, 2015. Weizmann Institute, Rehovot, Israel (2015)
Identification of potential regulatory elements in Capture-C interaction profiles. In: Genome Regulation in 3D, Vol. 17.
Conference Paper
Identification of cis-regulatory elements from chromosome conformation capture data. In: 19th Annual International Conference on Research in Computational Molecular Biology (RECOMB 2015). 19th Annual International Conference on Research in Computational
Molecular Biology (RECOMB 2015), Warsaw, Poland, April 12, 2015 - April 15, 2015. (2015)
Other (1)
18.
Other
Functional dissection of TADs reveals non-essential and instructive roles in regulating gene expression, bioRxiv (Preprint Server) 2019, (2019)
Preprint (2)
19.
Preprint
Combinatorial effects on gene expression at the Lbx1/Fgf8 locus resolve Split-Hand/Foot Malformation type 3. (2022)
20.
Preprint
Promoter repression and 3D-restructuring resolves divergent developmental gene expression in TADs. (2021)