User profiles for Giulio Genovese

Giulio Genovese

Stanley Canter at Broad Institute
Verified email at broadinstitute.org
Cited by 42248

Mapping genomic loci implicates genes and synaptic biology in schizophrenia

…, M Fromer, A Frustaci, A Gadelha, G Genovese… - Nature, 2022 - nature.com
Schizophrenia has a heritability of 60–80% 1 , much of which is attributable to common risk
alleles. Here, in a two-stage genome-wide association study of up to 76,755 individuals with …

[HTML][HTML] Clonal hematopoiesis and blood-cancer risk inferred from blood DNA sequence

G Genovese, AK Kähler, RE Handsaker… - … England Journal of …, 2014 - Mass Medical Soc
Background Cancers arise from multiple acquired mutations, which presumably occur over
many years. Early stages in cancer development might be present years before cancers …

Schizophrenia risk from complex variation of complement component 4

…, J Presumey, M Baum, V Van Doren, G Genovese… - Nature, 2016 - nature.com
Schizophrenia is a heritable brain illness with unknown pathogenic mechanisms.
Schizophrenia’s strongest genetic association at a population level involves variation in the major …

Association of trypanolytic ApoL1 variants with kidney disease in African Americans

G Genovese, DJ Friedman, MD Ross, L Lecordier… - Science, 2010 - science.org
African Americans have higher rates of kidney disease than European Americans. Here, we
show that, in African Americans, focal segmental glomerulosclerosis (FSGS) and …

A polygenic burden of rare disruptive mutations in schizophrenia

…, SE Bergen, A Kähler, L Duncan, E Stahl, G Genovese… - Nature, 2014 - nature.com
Schizophrenia is a common disease with a complex aetiology, probably involving multiple
and heterogeneous genetic factors. Here, by analysing the exome sequences of 2,536 …

[PDF][PDF] Modeling linkage disequilibrium increases accuracy of polygenic risk scores

…, A Gusev, S Lindström, S Ripke, G Genovese… - The american journal of …, 2015 - cell.com
Polygenic risk scores have shown great promise in predicting complex disease risk and will
become more accurate as training sample sizes increase. The standard approach for …

Rare coding variants in ten genes confer substantial risk for schizophrenia

…, D Gage, SA Gagliano Taliun, A Ganna, G Genovese… - Nature, 2022 - nature.com
Rare coding variation has historically provided the most direct connections between gene
function and disease pathogenesis. By meta-analysing the whole exomes of 24,248 …

Chromosomal instability drives metastasis through a cytosolic DNA response

…, K Chadalavada, VK Rajasekhar, G Genovese… - Nature, 2018 - nature.com
Chromosomal instability is a hallmark of cancer that results from ongoing errors in chromosome
segregation during mitosis. Although chromosomal instability is a major driver of tumour …

Contribution of copy number variants to schizophrenia from a genome-wide study of 41,321 subjects

…, JI Friedman, AJ Forstner, M Fromer, G Genovese… - Nature …, 2017 - nature.com
Copy number variants (CNVs) have been strongly implicated in the genetic etiology of
schizophrenia (SCZ). However, genome-wide investigation of the contribution of CNV to risk has …

APOL1 genetic variants in focal segmental glomerulosclerosis and HIV-associated nephropathy

…, K Sampath, RC Johnson, G Genovese… - Journal of the …, 2011 - journals.lww.com
Trypanolytic variants in APOL1, which encodes apolipoprotein L1, associate with kidney
disease in African Americans, but whether APOL1-associated glomerular disease has a distinct …