Publicacións en colaboración con investigadores/as de Harvard Medical School (25)

2024

  1. A genome-wide association meta-analysis of all-cause and vascular dementia

    Alzheimer's and Dementia, Vol. 20, Núm. 9, pp. 5973-5995

  2. Brain function in classic galactosemia, a galactosemia network (GalNet) members review

    Frontiers in Genetics

2023

  1. A second update on mapping the human genetic architecture of COVID-19

    Nature

  2. Challenges and unmet needs in FPIES from the parents and adult patients’ perspective: An international survey

    Journal of Allergy and Clinical Immunology: In Practice, Vol. 11, Núm. 4, pp. 1306-1309.e2

  3. Erratum: Author Correction: Common variants in Alzheimer's disease and risk stratification by polygenic risk scores (Nature communications (2021) 12 1 (3417))

    Nature communications

2022

  1. A randomized, double-blind, placebo-controlled phase II trial to explore the effects of a GABAA-α5 NAM (basmisanil) on intellectual disability associated with Down syndrome

    Journal of Neurodevelopmental Disorders, Vol. 14, Núm. 1

  2. Exome-wide association study to identify rare variants influencing COVID-19 outcomes: Results from the Host Genetics Initiative

    PLoS genetics, Vol. 18, Núm. 11, pp. e1010367

  3. Meta-analysis of epigenome-wide association studies in newborns and children show widespread sex differences in blood DNA methylation

    Mutation Research - Reviews in Mutation Research, Vol. 789

  4. Novel genes and sex differences in COVID-19 severity

    Human molecular genetics, Vol. 31, Núm. 22, pp. 3789-3806

  5. Rare coding variation provides insight into the genetic architecture and phenotypic context of autism

    Nature Genetics, Vol. 54, Núm. 9, pp. 1320-1331

2021

  1. Association of Rare CYP39A1 Variants with Exfoliation Syndrome Involving the Anterior Chamber of the Eye

    JAMA - Journal of the American Medical Association, Vol. 325, Núm. 8, pp. 753-764

  2. Breast cancer risk genes - Association analysis in more than 113,000 women

    New England Journal of Medicine, Vol. 384, Núm. 5, pp. 428-439

  3. Cognitive functioning throughout adulthood and illness stages in individuals with psychotic disorders and their unaffected siblings

    Molecular Psychiatry, Vol. 26, Núm. 8, pp. 4529-4543

  4. Common variants in Alzheimer's disease and risk stratification by polygenic risk scores

    Nature communications, Vol. 12, Núm. 1, pp. 3417

  5. Galactokinase deficiency: lessons from the GalNet registry

    Genetics in Medicine, Vol. 23, Núm. 1, pp. 202-210

2020

  1. Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism

    Cell, Vol. 180, Núm. 3, pp. 568-584.e23

  2. Publisher Correction: Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder (Nature Neuroscience, (2017), 20, 9, (1217-1224), 10.1038/nn.4598)

    Nature Neuroscience

  3. Whole-exome sequencing for the identification of rare variants in primary immunodeficiency genes in children with sepsis: A prospective, population-based cohort study

    Clinical Infectious Diseases, Vol. 71, Núm. 10, pp. E614-E623

2017

  1. Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder

    Nature Neuroscience, Vol. 20, Núm. 9, pp. 1217-1224

2015

  1. Inferior frontal gyrus white matter abnormalities in obsessive-compulsive disorder

    NeuroReport, Vol. 26, Núm. 9, pp. 495-500