Publicaciones en colaboración con investigadores/as de Consejo Superior de Investigaciones Científicas (8)

2024

  1. Chromatin conformation capture in the clinic: 4C-seq/HiC distinguishes pathogenic from neutral duplications at the GPR101 locus

    Genome Medicine, Vol. 16, Núm. 1

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

2022

  1. Duplications disrupt chromatin architecture and rewire GPR101-enhancer communication in X-linked acrogigantism

    American Journal of Human Genetics, Vol. 109, Núm. 4, pp. 553-570

  2. Gain of gene regulatory network interconnectivity at the origin of vertebrates

    Proceedings of the National Academy of Sciences of the United States of America, Vol. 119, Núm. 11

  3. Regulatory Architecture of the RCA Gene Cluster Captures an Intragenic TAD Boundary, CTCF-Mediated Chromatin Looping and a Long-Range Intergenic Enhancer

    Frontiers in immunology, Vol. 13, pp. 901747

2021

  1. CTCF knockout in zebrafish induces alterations in regulatory landscapes and developmental gene expression

    Nature Communications, Vol. 12, Núm. 1

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

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