Publicacións en colaboración con investigadores/as de Centre Hospitalier Universitaire de Liège (4)

2024

  1. Case report: Management of pediatric gigantism caused by the TADopathy, X-linked acrogigantism

    Frontiers in Endocrinology, Vol. 15

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

    Genome Medicine, Vol. 16, Núm. 1

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

2008

  1. KCTD5, a putative substrate adaptor for cullin3 ubiquitin ligases

    FEBS Journal, Vol. 275, Núm. 15, pp. 3900-3910