Publicacións en colaboración con investigadores/as de Broad Institute (25)

2024

  1. AI is a viable alternative to high throughput screening: a 318-target study

    Scientific Reports, Vol. 14, Núm. 1

  2. Clonal chromosomal mosaicism and loss of chromosome Y in elderly men increase vulnerability for SARS-CoV-2

    Communications biology, Vol. 7, Núm. 1, pp. 202

  3. Correction to: AI is a viable alternative to high throughput screening: a 318-target study (Scientific Reports, (2024), 14, 1, (7526), 10.1038/s41598-024-54655-z)

    Scientific Reports

  4. The European Health Data Space can be a boost for research beyond borders

    Nature Medicine

2023

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

    Nature

  2. Immunoglobulin, glucocorticoid, or combination therapy for multisystem inflammatory syndrome in children: a propensity-weighted cohort study

    The Lancet Rheumatology, Vol. 5, Núm. 4, pp. e184-e199

  3. Nirsevimab binding-site conservation in respiratory syncytial virus fusion glycoprotein worldwide between 1956 and 2021: an analysis of observational study sequencing data

    The Lancet Infectious Diseases, Vol. 23, Núm. 7, pp. 856-866

2022

  1. 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

  2. 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. Treatment of Multisystem Inflammatory Syndrome in Children

    New England Journal of Medicine, Vol. 385, Núm. 1, pp. 11-22

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

2019

  1. Author Correction: Genetic meta-analysis of diagnosed Alzheimer’s disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing (Nature Genetics, (2019), 51, 3, (414-430), 10.1038/s41588-019-0358-2)

    Nature Genetics

  2. Genetic meta-analysis of diagnosed Alzheimer’s disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing

    Nature Genetics, Vol. 51, Núm. 3, pp. 414-430

  3. OMIC Technologies and vaccine development: From the identification of vulnerable individuals to the formulation of invulnerable vaccines

    Journal of Immunology Research, Vol. 2019

2017

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

    American Journal of Human Genetics

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

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

  3. The genetic component of bicuspid aortic valve and aortic dilation. An exome-wide association study

    Journal of Molecular and Cellular Cardiology, Vol. 102, pp. 3-9

2014

  1. Ancient human genomes suggest three ancestral populations for present-day Europeans

    Nature, Vol. 513, Núm. 7518, pp. 409-413