Publications in collaboration with researchers from Institut d'Investigació Biomédica de Bellvitge (4)

2022

  1. Preimplantation genetic testing for a chr14q32 microdeletion in a family with Kagami-Ogata syndrome and Temple syndrome

    Journal of Medical Genetics, Vol. 59, Núm. 3, pp. 253-261

2018

  1. Diagnosis and management of pseudohypoparathyroidism and related disorders: First international Consensus Statement

    Nature Reviews Endocrinology, Vol. 14, Núm. 8, pp. 476-500

2016

  1. Clinical and molecular analyses of Beckwith–Wiedemann syndrome: Comparison between spontaneous conception and assisted reproduction techniques

    American Journal of Medical Genetics, Part A, Vol. 170, Núm. 10, pp. 2740-2749

  2. Genome-wide DNA methylation analysis of pseudohypoparathyroidism patients with GNAS imprinting defects

    Clinical Epigenetics, Vol. 8, Núm. 1, pp. 1-12