Publicaciones en colaboración con investigadores/as de Charité (10)

2023

  1. Combinatorial effects on gene expression at the Lbx1/Fgf8 locus resolve split-hand/foot malformation type 3

    Nature Communications, Vol. 14, Núm. 1

  2. Publisher Correction: Combinatorial effects on gene expression at the Lbx1/Fgf8 locus resolve split-hand/foot malformation type 3 (Nature Communications, (2023), 14, 1, (1475), 10.1038/s41467-023-37057-z)

    Nature Communications

2021

  1. Position effects at the FGF8 locus are associated with femoral hypoplasia

    American Journal of Human Genetics, Vol. 108, Núm. 9, pp. 1725-1734

2019

  1. Functional dissection of the Sox9–Kcnj2 locus identifies nonessential and instructive roles of TAD architecture

    Nature Genetics, Vol. 51, Núm. 8, pp. 1263-1271

2018

  1. Dynamic 3D chromatin architecture contributes to enhancer specificity and limb morphogenesis

    Nature Genetics, Vol. 50, Núm. 10, pp. 1463-1473

2016

  1. Formation of new chromatin domains determines pathogenicity of genomic duplications

    Nature, Vol. 538, Núm. 7624, pp. 265-269

2015

  1. Deletions, inversions, duplications: Engineering of structural variants using CRISPR/Cas in mice

    Cell Reports, Vol. 10, Núm. 5, pp. 833-839

  2. Disruptions of topological chromatin domains cause pathogenic rewiring of gene-enhancer interactions

    Cell, Vol. 161, Núm. 5, pp. 1012-1025

  3. MiR-21 is required for efficient kidney regeneration in fish

    BMC Developmental Biology, Vol. 15, Núm. 1

2012

  1. Homeotic arm-to-leg transformation associated with genomic rearrangements at the PITX1 locus

    American Journal of Human Genetics, Vol. 91, Núm. 4, pp. 629-635