Publicaciones en colaboración con investigadores/as de Duke University (5)

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

2020

  1. Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor β Signaling

    Biological Psychiatry, Vol. 87, Núm. 2, pp. 100-112

2019

  1. Neurodevelopmental mutation of giant ankyrin-G disrupts a core mechanism for axon initial segment assembly

    Proceedings of the National Academy of Sciences of the United States of America, Vol. 116, Núm. 39, pp. 19717-19726

2013

  1. Treatment of idiopathic pulmonary fibrosis with Ambrisentan: A parallel, randomized trial

    Annals of Internal Medicine, Vol. 158, Núm. 9, pp. 641-649

2006

  1. European women's preference for osteoporosis treatment: Influence of clinical effectiveness and dosing frequency

    Current Medical Research and Opinion