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Author Details

Giulio Genovese
2009
83
47
PMIDPaper TitleJournal TitlePublished Year
37502926Prevalence, Morbidity, and Mortality of 1,609 Men with Sex Chromosome Aneuploidy: Results from the Diverse Million Veteran Program Cohort.medRxiv2023
36226386The genomic landscape across 474 surgically accessible epileptogenic human brain lesions.Brain2023
37565819Serum biomarkers are altered in UK Biobank participants with mosaic chromosomal alterations.Hum Mol Genet2023
37205546Multi-ancestry GWAS of Fuchs corneal dystrophy highlights roles of laminins, collagen, and endothelial cell regulation.Res Sq2023
35176222Whole-genome analysis of human embryonic stem cells enables rational line selection based on genetic variation.Cell Stem Cell2022
35396580Mapping genomic loci implicates genes and synaptic biology in schizophrenia.Nature2022
35396579Rare coding variants in ten genes confer substantial risk for schizophrenia.Nature2022
36103194Penetrance and Pleiotropy of Polygenic Risk Scores for Schizophrenia, Bipolar Disorder, and Depression Among Adults in the US Veterans Affairs Health Care System.JAMA Psychiatry2022
35835769Chromosomal phase improves aneuploidy detection in non-invasive prenatal testing at low fetal DNA fractions.Scientific Reports2022
35760976The 22q11.2 region regulates presynaptic gene-products linked to schizophrenia.Nat Commun2022
35821803Clonal Hematopoiesis Analyses in Clinical, Epidemiologic, and Genetic Aging Studies to Unravel Underlying Mechanisms of Age-Related Dysfunction in Humans.Front Aging2022
35482673A Phenome-Wide Association Study of genes associated with COVID-19 severity reveals shared genetics with complex diseases in the Million Veteran Program.PLoS Genet2022
34883504Publicly Available hiPSC Lines with Extreme Polygenic Risk Scores for Modeling Schizophrenia.Complex Psychiatry2021
33674754Correction: Investigating rare pathogenic/likely pathogenic exonic variation in bipolar disorder.Mol Psychiatry2021
33432194Large mosaic copy number variations confer autism risk.Nat Neurosci2021
33268447Genetic Ancestry Contributes to Somatic Mutations in Lung Cancers from Admixed Latin American Populations.Cancer Discov2021
33236004Hematopoietic mosaic chromosomal alterations and risk for infection among 767,891 individuals without blood cancer.Res Sq2020
31932770Exome sequencing in schizophrenia-affected parent-offspring trios reveals risk conferred by protein-coding de novo mutations.Nat Neurosci2020
32581363Monogenic and polygenic inheritance become instruments for clonal selection.Nature2020
31308072Contributions of Rare Gene Variants to Familial and Sporadic FSGS.J Am Soc Nephrol2019
31748747Genetic predisposition to mosaic Y chromosome loss in blood.Nature2019
31624269GWAS of mosaic loss of chromosome Y highlights genetic effects on blood cell differentiation.Nature Communications2019
30462333Schizophrenia is Associated With an Aberrant Immune Response to Epstein-Barr Virus.Schizophrenia Bulletin2019
30735661The Genetic Landscape of Diamond-Blackfan Anemia.Am J Hum Genet2019
30718465The genomics of major psychiatric disorders in a large pedigree from Northern Sweden.Transl Psychiatry2019
29632380Heritability enrichment of specifically expressed genes identifies disease-relevant tissues and cell types.Nat Genet2018
30503522The Genetic Landscape of Diamond-Blackfan Anemia.Am J Hum Genet2018
29995854Insights into clonal haematopoiesis from 8,342 mosaic chromosomal alterations.Nature2018
29531077<i>UBD</i> modifies <i>APOL1</i>-induced kidney disease risk.Proc Natl Acad Sci U S A2018
29706349Haplotype Sharing Provides Insights into Fine-Scale Population History and Disease in Finland.Am J Hum Genet2018
29342134Chromosomal instability drives metastasis through a cytosolic DNA response.Nature2018
29296025Genome-wide common and rare variant analysis provides novel insights into clozapine-associated neutropenia.Mol Psychiatry2018
29643232Increased neutrophil extracellular trap formation promotes thrombosis in myeloproliferative neoplasms.Sci Transl Med2018
27869829Contribution of copy number variants to schizophrenia from a genome-wide study of 41,321 subjects.Nat Genet2017
28671696Spatiotemporal profile of postsynaptic interactomes integrates components of complex brain disorders.Nat Neurosci2017
28445466Human pluripotent stem cells recurrently acquire and expand dominant negative P53 mutations.Nature2017
29263833Mosaic mutations in blood DNA sequence are associated with solid tumor cancers.NPJ Genom Med2017
29262854Integrated Bayesian analysis of rare exonic variants to identify risk genes for schizophrenia and neurodevelopmental disorders.Genome Med2017
27400856Genome-wide common and rare variant analysis provides novel insights into clozapine-associated neutropenia.Mol Psychiatry2017
28238293The Weighting is the Hardest Part: On the Behavior of the Likelihood Ratio Test and the Score Test Under a Data-Driven Weighting Scheme in Sequenced Samples.Twin Res Hum Genet2017
27502474Genome-wide common and rare variant analysis provides novel insights into clozapine-associated neutropenia.Mol Psychiatry2017
27792727No Reliable Association between Runs of Homozygosity and Schizophrenia in a Well-Powered Replication Study.PLoS Genet2016
25560756Copy number variation in bipolar disorder.Mol Psychiatry2016
26814963Schizophrenia risk from complex variation of complement component 4.Nature2016
27694994Increased burden of ultra-rare protein-altering variants among 4,877 individuals with schizophrenia.Nat Neurosci2016
27694993Ultra-rare disruptive and damaging mutations influence educational attainment in the general population.Nat Neurosci2016
24888363MIR137 variants identified in psychiatric patients affect synaptogenesis and neuronal transmission gene sets.Molecular Psychiatry2015
25933006Copy Number Variation at the APOL1 Locus.PLoS One2015
25370044No evidence for rare recessive and compound heterozygous disruptive variants in schizophrenia.Eur J Hum Genet2015
25621458Large multiallelic copy number variations in humans.Nature Genetics2015
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Massachusetts General Hospital
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Brigham and Women's Hospital
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Broad Institute of MIT and Harvard
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Vanderbilt University Medical Center
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Massachusetts General Hospital and Harvard Medical School
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Broad Institute of MIT and Harvard
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Center for Genomic Medicine, Massachusetts General Hospital
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