Author: Giulio Genovese

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Preprints

Population analyses of mosaic X chromosome loss identify genetic drivers and widespread signatures of cellular selection

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Exome sequencing identifies rare coding variants in 10 genes which confer substantial risk for schizophrenia

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Heritability enrichment of specifically expressed genes identifies disease-relevant tissues and cell types

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Ultra-rare disruptive and damaging mutations influence educational attainment in the general population

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A contribution of novel CNVs to schizophrenia from a genome-wide study of 41,321 subjects

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Hematopoietic mosaic chromosomal alterations and risk for infection among 767,891 individuals without blood cancer

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Monogenic and polygenic inheritance become instruments for clonal selection

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A Phenome-Wide Association Study of genes associated with COVID-19 severity reveals shared genetics with complex diseases in the Million Veteran Program

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Genomic dissection of bipolar disorder and schizophrenia including 28 subphenotypes

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Integrated Bayesian analysis of rare exonic variants to identify risk genes for schizophrenia and neurodevelopmental disorders

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Genetic predisposition to mosaic Y chromosome loss in blood is associated with genomic instability in other tissues and susceptibility to non-haematological cancers

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Large mosaic copy number variations confer autism risk

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Non-crossover gene conversions show strong GC bias and unexpected clustering in humans

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Haplotype sharing provides insights into fine-scale population history and disease in Finland

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The Genetic Landscape of Diamond-Blackfan Anemia

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Publicly available hiPSC lines with extreme polygenic risk scores for modeling schizophrenia

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The weighting is the hardest part: on the behavior of the likelihood ratio test and score test under weight misspecification in rare variant association studies

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Schizophrenia risk conferred by protein-coding de novo mutations

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The 22q11.2 region regulates presynaptic gene-products linked to schizophrenia

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Mosaic Mutations in Blood DNA Sequence Are Associated with Solid Tumor Cancers

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Leveraging distant relatedness to quantify human mutation and gene conversion rates

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Insights into dispersed duplications and complex structural mutations from whole genome sequencing 706 families

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Biological insights from the whole genome analysis of human embryonic stem cells

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Schizophrenia-associated somatic copy number variants from 12,834 cases reveal contribution to risk and recurrent, isoform-specific NRXN1 disruptions

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Germline genomic and phenomic landscape of clonal hematopoiesis in 323,112 individuals

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Genetic ancestry contributes to somatic mutations in lung cancers from admixed Latin American populations

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Genetic variant in SPDL1 reveals novel mechanism linking pulmonary fibrosis risk and cancer protection

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The genomic landscape across 474 surgically accessible epileptogenic human brain lesions

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Penetrance and Pleiotropy of Polygenic Risk Scores for Schizophrenia, Bipolar Disorder, and Depression in the VA Health Care System

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