Publicacións en colaboración con investigadores/as de Johns Hopkins University School of Medicine (7)

2017

  1. Association analysis identifies 65 new breast cancer risk loci

    Nature, Vol. 551, Núm. 7678, pp. 92-94

  2. Erratum to: Longitudinal volumetric and 2D assessment of cerebellar atrophy in a large cohort of children with phosphomannomutase deficiency (PMM2-CDG) (J Inherit Metab Dis, 10.1007/s10545–017–0028-4)

    Journal of Inherited Metabolic Disease

  3. ISL1 is a major susceptibility gene for classic bladder exstrophy and a regulator of urinary tract development

    Scientific Reports, Vol. 7

  4. International Cooperation to Enable the Diagnosis of All Rare Genetic Diseases

    American Journal of Human Genetics

  5. Longitudinal volumetric and 2D assessment of cerebellar atrophy in a large cohort of children with phosphomannomutase deficiency (PMM2-CDG)

    Journal of Inherited Metabolic Disease, Vol. 40, Núm. 5, pp. 709-713

2011

  1. Maternal methadone dose, placental methadone concentrations, and neonatal outcomes

    Clinical Chemistry, Vol. 57, Núm. 3, pp. 449-458

2010

  1. Genetic variants near TIMP3 and high-density lipoprotein-associated loci influence susceptibility to age-related macular degeneration

    Proceedings of the National Academy of Sciences of the United States of America, Vol. 107, Núm. 16, pp. 7401-7406