Publications in collaboration with researchers from 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