Departamento de Ciencias Forenses, Anatomía Patolóxica, Xinecoloxía e Obstetricia e Pediatría
Institut
Broad Institute
Cambridge, Estados UnidosPublikationen in Zusammenarbeit mit Forschern von Broad Institute (23)
2024
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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
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The European Health Data Space can be a boost for research beyond borders
Nature Medicine
2023
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A second update on mapping the human genetic architecture of COVID-19
Nature
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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
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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
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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
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Rare coding variation provides insight into the genetic architecture and phenotypic context of autism
Nature Genetics, Vol. 54, Núm. 9, pp. 1320-1331
2021
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Treatment of Multisystem Inflammatory Syndrome in Children
New England Journal of Medicine, Vol. 385, Núm. 1, pp. 11-22
2020
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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
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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
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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
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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
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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
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OMIC Technologies and vaccine development: From the identification of vulnerable individuals to the formulation of invulnerable vaccines
Journal of Immunology Research, Vol. 2019
2017
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International Cooperation to Enable the Diagnosis of All Rare Genetic Diseases
American Journal of Human Genetics
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Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder
Nature Neuroscience, Vol. 20, Núm. 9, pp. 1217-1224
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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
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Ancient human genomes suggest three ancestral populations for present-day Europeans
Nature, Vol. 513, Núm. 7518, pp. 409-413
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Common variant at 16p11.2 conferring risk of psychosis
Molecular Psychiatry, Vol. 19, Núm. 1, pp. 108-114
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Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization
Nature Genetics, Vol. 46, Núm. 8, pp. 826-836