Publications
The following publications were published exclusively under the affiliation of the Max Planck Society.
Journal Article (18)
Journal Article
A missing enzyme-rescue metabolite as cause of a rare skeletal dysplasia. Nature (2025)
Journal Article
Conservation of regulatory elements with highly diverged sequences across large evolutionary distances. Nature Genetics 57, pp. 1524 - 1534 (2025)
Journal Article
Evolution and function of chromatin domains across the tree of life. Nature Structural & Molecular Biology 31 (12), pp. 1824 - 1837 (2024)
Journal Article
Enhancer contacts during embryonic development show diverse interaction modes and modest yet significant increases upon gene activation. Nature Genetics 56 (4), pp. 558 - 560 (2024)
Journal Article
Single-cell, whole-embryo phenotyping of mammalian developmental disorders. Nature 623 (7988), pp. 772 - 781 (2023)
Journal Article
Repression and 3D-restructuring resolves regulatory conflicts in evolutionarily rearranged genomes. Cell 185 (20), pp. 3689 - 3704 (2022)
Journal Article
Unblending of Transcriptional Condensates in Human Repeat Expansion Disease. Cell 181 (5), pp. 1062 - 1079 (2020)
Journal Article
The role of 3D chromatin domains in gene regulation: a multi-facetted view on genome organization. Current Opinion in Genetics & Development 61, pp. 1 - 8 (2020)
Journal Article
Functional dissection of the Sox9-Kcnj2 locus identifies nonessential and instructive roles of TAD architecture. Nature Genetics 51 (8), pp. 1263 - 1271 (2019)
Journal Article
Serial genomic inversions induce tissue-specific architectural stripes, gene misexpression and congenital malformations. Nature Cell Biology 21 (3), pp. 305 - 310 (2019)
Journal Article
Mutation in LBX1/Lbx1 precludes transcription factor cooperativity and causes congenital hypoventilation in humans and mice. Proceedings of the National Academy of Sciences of the United States of America 115 (51), pp. 13021 - 13026 (2018)
Journal Article
Odd skipped-related 1 identifies a population of embryonic fibro-adipogenic progenitors regulating myogenesis during limb development. Nature Communications 8 (1), 1218 (2017)
Journal Article
Characterization of hundreds of regulatory landscapes in developing limbs reveals two regimes of chromatin folding. Genome Research 27 (2), pp. 223 - 233 (2017)
Journal Article
Genome-Wide Binding of Posterior HOXA/D Transcription Factors Reveals Subgrouping and Association with CTCF. PLoS Genetics 13 (1), e1006567 (2017)
Journal Article
Formation of novel chromatin domains determines pathogenicity of genomic duplications. Nature 538 (7624), pp. 265 - 269 (2016)
Journal Article
A homozygous HOXD13 missense mutation causes a severe form of synpolydactyly with metacarpal to carpal transformation. American Journal of Medical Genetics Part A 170 (3), pp. 615 - 621 (2016)
Journal Article
Deletions, Inversions, Duplications: Engineering of Structural Variants using CRISPR/Cas in Mice. Cell Reports 10 (5), pp. 833 - 839 (2015)
Journal Article
Distinct global shifts in genomic binding profiles of limb malformation associated HOXD13 mutations. Genome Research 23 (12), pp. 2091 - 2102 (2013)
Conference Paper (1)
Conference Paper
Identification of potential regulatory elements in Capture-C interaction profiles. In: Genome Regulation in 3D. Genome Regulation in 3D, Rehovot, Israel, June 28, 2015 - June 30, 2015. Weizmann Institute, Rehovot, Israel (2015)
Talk (1)
Talk
LilBUBome - Why would you crowdfund a cute cat? Open Science Days 2016, Berlin (2016)