Publicaciones en colaboración con investigadores/as de University of Washington (6)

2022

  1. An HNRNPK-specific DNA methylation signature makes sense of missense variants and expands the phenotypic spectrum of Au-Kline syndrome

    American Journal of Human Genetics, Vol. 109, Núm. 10, pp. 1867-1884

  2. GIGYF1 disruption associates with autism and impaired IGF-1R signaling

    Journal of Clinical Investigation, Vol. 132, Núm. 19

2020

  1. Further delineation of the clinical spectrum of KAT6B disorders and allelic series of pathogenic variants

    Genetics in Medicine, Vol. 22, Núm. 8, pp. 1338-1347

2016

  1. Sudden cardiac arrest on the football field of play-highlights for sports medicine from the European Resuscitation Council 2015 Consensus Guidelines

    British Journal of Sports Medicine, Vol. 50, Núm. 2, pp. 81-83

2011

  1. Consensus document regarding cardiovascular safety at sports arenas

    European Heart Journal, Vol. 32, Núm. 17, pp. 2119-2124

1996

  1. Clear cell carcinoma of the ovary: A distinct histologic type with poor prognosis and resistance to platinum-based chemotherapy in stage III disease

    Gynecologic Oncology, Vol. 60, Núm. 3, pp. 412-417