Publications in collaboration with researchers from Broad Institute (16)

2024

  1. 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

  2. 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

2022

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

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

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

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

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. Common variant at 16p11.2 conferring risk of psychosis

    Molecular Psychiatry, Vol. 19, Núm. 1, pp. 108-114

  2. Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization

    Nature Genetics, Vol. 46, Núm. 8, pp. 826-836

  3. Synaptic, transcriptional and chromatin genes disrupted in autism

    Nature, Vol. 515, Núm. 7526, pp. 209-215

2013

  1. Transcriptome and genome sequencing uncovers functional variation in humans

    Nature, Vol. 501, Núm. 7468, pp. 506-511

2011

  1. Common variants at VRK2 and TCF4 conferring risk of schizophrenia

    Human Molecular Genetics, Vol. 20, Núm. 20, pp. 4076-4081