Publications in collaboration with researchers from Massachusetts General Hospital (11)

2024

  1. The Human Phenotype Ontology in 2024: phenotypes around the world

    Nucleic acids research, Vol. 52, Núm. D1, pp. D1333-D1346

2012

  1. Detection of hypomethylation syndrome among patients with epigenetic alterations at the GNAS locus

    Journal of Clinical Endocrinology and Metabolism, Vol. 97, Núm. 6

2007

  1. Epigenetic defects of GNAS in patients with pseudohypoparathyroidism and mild features of Albright's hereditary osteodystrophy

    Journal of Clinical Endocrinology and Metabolism, Vol. 92, Núm. 6, pp. 2370-2373