Publicaciones en colaboración con investigadores/as de Hospital Infantil Universitario Niño Jesus de Madrid (6)

2021

  1. Next-generation Sequencing in Bone Marrow Failure Syndromes and Isolated Cytopenias: Experience of the Spanish Network on Bone Marrow Failure Syndromes

    HemaSphere, Vol. 5, Núm. 4

2020

  1. Clinical and Molecular Description of 16 Families With Heterozygous IHH Variants

    The Journal of clinical endocrinology and metabolism, Vol. 105, Núm. 8

2019

  1. Genetic analyses of aplastic anemia and idiopathic pulmonary fibrosis patients with short telomeres, possible implication of DNA-repair genes

    Orphanet Journal of Rare Diseases, Vol. 14, Núm. 1

  2. Somatic activating mutations in PIK3CA cause generalized lymphatic anomaly

    Journal of Experimental Medicine, Vol. 216, Núm. 2, pp. 407-418

2018

  1. Heterozygous aggrecan variants are associated with short stature and brachydactyly: Description of 16 probands and a review of the literature

    Clinical Endocrinology, Vol. 88, Núm. 6, pp. 820-829

2013

  1. PLP1 gene analysis in 88 patients with leukodystrophy

    Clinical Genetics, Vol. 84, Núm. 6, pp. 566-571