Nature Genetics Journal

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Genome-wide analysis in over 1 million individuals of European ancestry yields improved polygenic risk scores for blood pressure traits. 56:778-791. 2024
Comprehensive whole-genome sequence analyses provide insights into the genomic architecture of cerebral palsy. 56:585-594. 2024
Identifying individuals at extreme risk of venous thromboembolism using polygenic risk scores. 55:358-360. 2023
Genomic atlas of the plasma metabolome prioritizes metabolites implicated in human diseases. 55:44-53. 2023
Statistical and functional convergence of common and rare genetic influences on autism at chromosome 16p. 54:1630-1639. 2022
Targeted profiling of human extrachromosomal DNA by CRISPR-CATCH. 54:1746-1754. 2022
Genome-wide association analyses of physical activity and sedentary behavior provide insights into underlying mechanisms and roles in disease prevention. 54:1332-1344. 2022
Large-scale sequencing identifies multiple genes and rare variants associated with Crohn’s disease susceptibility. 54:1275-1283. 2022
Multi-ancestry genetic study of type 2 diabetes highlights the power of diverse populations for discovery and translation. 54:560-572. 2022
Author Correction: Gain-of-function variants in SYK cause immune dysregulation and systemic inflammation in humans and mice. 54:213-213. 2022
Pathogenic SPTBN1 variants cause an autosomal dominant neurodevelopmental syndrome. 53:1006-1021. 2021
Publisher Correction: Discovery of rare variants associated with blood pressure regulation through meta-analysis of 1.3 million individuals. 53:762-762. 2021
Gain-of-function variants in SYK cause immune dysregulation and systemic inflammation in humans and mice. 53:500-510. 2021
Discovery of rare variants associated with blood pressure regulation through meta-analysis of 1.3 million individuals. 52:1314-1332. 2020
The DNA methylation landscape of advanced prostate cancer. 52:778-789. 2020
Publisher Correction: Multiancestry genome-wide association study of 520,000 subjects identifies 32 loci associated with stroke and stroke subtypes. 51:1192-1193. 2019
Genome-wide association analyses of risk tolerance and risky behaviors in over 1 million individuals identify hundreds of loci and shared genetic influences. 51:245-257. 2019
Trans-ethnic association study of blood pressure determinants in over 750,000 individuals. 51:51-62. 2019
Publisher Correction: Genetic analysis of over 1 million people identifies 535 new loci associated with blood pressure traits. 50:1755-1755. 2018
Genetic analysis of over 1 million people identifies 535 new loci associated with blood pressure traits. 50:1412-1425. 2018
Multi-ethnic genome-wide association study for atrial fibrillation. 50:1225-1233. 2018
Multiancestry genome-wide association study of 520,000 subjects identifies 32 loci associated with stroke and stroke subtypes. 50:524-537. 2018
Identification of new susceptibility loci for type 2 diabetes and shared etiological pathways with coronary heart disease. 49:1450-1457. 2017
Rare coding variants in PLCG2, ABI3, and TREM2 implicate microglial-mediated innate immunity in Alzheimer's disease. 49:1373-1384. 2017
Ancient selection for derived alleles at a GDF5 enhancer influencing human growth and osteoarthritis risk. 49:1202-1210. 2017
Erratum: Large-scale analyses of common and rare variants identify 12 new loci associated with atrial fibrillation. 49:1286-1286. 2017
Polygenic transmission disequilibrium confirms that common and rare variation act additively to create risk for autism spectrum disorders. 49:978-985. 2017
Large-scale analyses of common and rare variants identify 12 new loci associated with atrial fibrillation. 49:946-952. 2017
Genome-wide association analyses for lung function and chronic obstructive pulmonary disease identify new loci and potential druggable targets. 49:416-425. 2017
Genome-wide association analysis identifies novel blood pressure loci and offers biological insights into cardiovascular risk. 49:403-415. 2017
A comprehensive 1000 Genomes–based genome-wide association meta-analysis of coronary artery disease. 47:1121-1130. 2015
Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signaling. 46:503-509. 2014
Low copy number of the salivary amylase gene predisposes to obesity. 46:492-497. 2014
Fusion of TTYH1 with the C19MC microRNA cluster drives expression of a brain-specific DNMT3B isoform in the embryonal brain tumor ETMR. 46:39-44. 2014
Genetic signature of bacterial pathogen adaptation during chronic pulmonary infections. 46:5-6. 2014
Meta-analysis of 74,046 individuals identifies 11 new susceptibility loci for Alzheimer's disease. 45:1452-1458. 2013
Defining the disease liability of variants in the cystic fibrosis transmembrane conductance regulator gene. 45:1160-1167. 2013
Genetic relationship between five psychiatric disorders estimated from genome-wide SNPs. 45:984-994. 2013
Dense genotyping of immune-related disease regions identifies nine new risk loci for primary sclerosing cholangitis. 45:670-675. 2013
Genomics of Loa loa, a Wolbachia-free filarial parasite of humans. 45:495-500. 2013
Common variants at the MHC locus and at chromosome 16q24.1 predispose to Barrett's esophagus. 44:1131-1136. 2012
Multiple apical plasma membrane constituents are associated with susceptibility to meconium ileus in individuals with cystic fibrosis. 44:562-569. 2012
De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome. 44:440-444. 2012
Meta-analyses identify 13 loci associated with age at menopause and highlight DNA repair and immune pathways. 44:260-268. 2012
Erratum: Meta-analysis identifies 13 new loci associated with waist-hip ratio and reveals sexual dimorphism in the genetic basis of fat distribution. 43:1164-1164. 2011
Genome-wide association and linkage identify modifier loci of lung disease severity in cystic fibrosis at 11p13 and 20q13.2. 43:539-546. 2011
Bias due to selection of rare variants using frequency in controls. 43:394-395. 2011
Common variants at MS4A4/MS4A6E, CD2AP, CD33 and EPHA1 are associated with late-onset Alzheimer's disease. 43:436-441. 2011
A genome-wide association study in Europeans and South Asians identifies five new loci for coronary artery disease. 43:339-344. 2011
Large-scale association analysis identifies 13 new susceptibility loci for coronary artery disease. 43:333-338. 2011
Systematic documentation and analysis of human genetic variation in hemoglobinopathies using the microattribution approach. 43:295-301. 2011
Thirty new loci for age at menarche identified by a meta-analysis of genome-wide association studies. 42:1077-1085. 2010
Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index. 42:937-948. 2010
Meta-analysis identifies 13 new loci associated with waist-hip ratio and reveals sexual dimorphism in the genetic basis of fat distribution. 42:949-960. 2010
Excess of rare variants in genes identified by genome-wide association study of hypertriglyceridemia. 42:684-687. 2010
Mutations in the SHANK2 synaptic scaffolding gene in autism spectrum disorder and mental retardation. 42:489-491. 2010
Genome-wide meta-analyses identify multiple loci associated with smoking behavior. 42:441-447. 2010
New loci associated with kidney function and chronic kidney disease. 42:376-384. 2010
Erratum: Etv4 and Etv5 are required downstream of GDNF and Ret for kidney branching morphogenesis. 42:361-361. 2010
Genetic variation in GIPR influences the glucose and insulin responses to an oral glucose challenge. 42:142-148. 2010
Etv4 and Etv5 are required downstream of GDNF and Ret for kidney branching morphogenesis. 41:1295-1302. 2009
Genome-wide association studies identify loci associated with age at menarche and age at natural menopause. 41:724-728. 2009
Multiple loci associated with indices of renal function and chronic kidney disease. 41:712-717. 2009
Multiple recurrent genetic events converge on control of histone lysine methylation in medulloblastoma. 41:465-472. 2009
Genome-wide association of early-onset myocardial infarction with single nucleotide polymorphisms and copy number variants. 41:334-341. 2009
TARDBP mutations in individuals with sporadic and familial amyotrophic lateral sclerosis. 40:572-574. 2008
Mapping autism risk loci using genetic linkage and chromosomal rearrangements. 39:319-328. 2007
ANG mutations segregate with familial and 'sporadic' amyotrophic lateral sclerosis. 38:411-413. 2006
Just-in-time transcription program in metabolic pathways. 36:486-491. 2004
Comparative analysis of the genome sequences of Bordetella pertussis, Bordetella parapertussis and Bordetella bronchiseptica. 35:32-40. 2003
Cell-cycle-regulated association of RAD50/MRE11/NBS1 with TRF2 and human telomeres. 25:347-352. 2000
Correction: Genomic DNA transfer with a high-capacity adenovirus vector results in improved in vivo gene expression and decreased toxicity. 18:298-298. 1998
Genomic DNA transfer with a high-capacity adenovirus vector results in improved in vivo gene expression and decreased toxicity. 18:180-183. 1998
Cloning, expression and chromosomal mapping of human lysosomal sialidase and characterization of mutations in sialidosis. 15:316-320. 1997

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