Publicaciones en colaboración con investigadores/as de University of Cambridge (13)

2023

  1. Genetic counselling and testing in pulmonary arterial hypertension: a consensus statement on behalf of the International Consortium for Genetic Studies in PAH

    European Respiratory Journal, Vol. 61, Núm. 2

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

2021

  1. COVID19 Disease Map, a computational knowledge repository of virus–host interaction mechanisms

    Molecular Systems Biology, Vol. 17, Núm. 10

2020

  1. Immune Cell Associations with Cancer Risk

    iScience, Vol. 23, Núm. 7

  2. The role of ZFP57 and additional KRAB-zinc finger proteins in the maintenance of human imprinted methylation and multi-locus imprinting disturbances

    Nucleic acids research, Vol. 48, Núm. 20, pp. 11394-11407

2019

  1. Remodeling of Bone Marrow Hematopoietic Stem Cell Niches Promotes Myeloid Cell Expansion during Premature or Physiological Aging

    Cell Stem Cell, Vol. 25, Núm. 3, pp. 407-418.e6

2017

  1. Nomenclature and definition in asymmetric regional body overgrowth

    American Journal of Medical Genetics, Part A, Vol. 173, Núm. 7, pp. 1735-1738

2016

  1. Causes and Consequences of Multi-Locus Imprinting Disturbances in Humans

    Trends in Genetics, Vol. 32, Núm. 7, pp. 444-455

  2. EMQN best practice guidelines for the molecular genetic testing and reporting of chromosome 11p15 imprinting disorders: Silver-Russell and Beckwith-Wiedemann syndrome

    European Journal of Human Genetics, Vol. 24, Núm. 10, pp. 1377-1387

  3. Prenatal molecular testing for Beckwith-Wiedemann and Silver-Russell syndromes: A challenge for molecular analysis and genetic counseling

    European Journal of Human Genetics, Vol. 24, Núm. 6, pp. 784-793

2013

  1. Transcription elongation regulator 1 (TCERG1) regulates competent RNA polymerase II-mediated elongation of HIV-1 transcription and facilitates efficient viral replication

    Retrovirology, Vol. 10, Núm. 1

2009

  1. Lines is required for normal operation of Wingless, Hedgehog and Notch pathways during wing development

    Development, Vol. 136, Núm. 7, pp. 1211-1221

2003

  1. Genetic variability of immunomodulatory genes in ectromelia virus isolates detected by denaturing high-performance liquid chromatography

    Journal of Virology, Vol. 77, Núm. 18, pp. 10139-10146