Nat Genet

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  Publication Venue For

  • Multi-ancestry transcriptome-wide association analyses yield insights into tobacco use biology and drug repurposing..  55:291-300. 2023
  • Powerful, scalable and resource-efficient meta-analysis of rare variant associations in large whole genome sequencing studies..  55:154-164. 2023
  • Retrotransposon activation during Drosophila metamorphosis conditions adult antiviral responses..  54:1933-1945. 2022
  • Cross-ancestry genome-wide meta-analysis of 61,047 cases and 947,237 controls identifies new susceptibility loci contributing to lung cancer..  54:1167-1177. 2022
  • Genomic analysis defines clonal relationships of ductal carcinoma in situ and recurrent invasive breast cancer..  54:850-860. 2022
  • Multi-ancestry genetic study of type 2 diabetes highlights the power of diverse populations for discovery and translation..  54:560-572. 2022
  • Polygenic risk scores for CARDINAL study..  54:527-530. 2022
  • Assessing the contribution of rare variants to complex trait heritability from whole-genome sequence data..  54:263-273. 2022
  • Author Correction: A high-resolution HLA reference panel capturing global population diversity enables multi-ancestry fine-mapping in HIV host response..  53:1722. 2021
  • A high-resolution HLA reference panel capturing global population diversity enables multi-ancestry fine-mapping in HIV host response..  53:1504-1516. 2021
  • Mapping the genetic architecture of human traits to cell types in the kidney identifies mechanisms of disease and potential treatments..  53:1322-1333. 2021
  • Pathogenic SPTBN1 variants cause an autosomal dominant neurodevelopmental syndrome..  53:1006-1021. 2021
  • BAHCC1 binds H3K27me3 via a conserved BAH module to mediate gene silencing and oncogenesis..  52:1384-1396. 2020
  • Dynamic incorporation of multiple in silico functional annotations empowers rare variant association analysis of large whole-genome sequencing studies at scale..  52:969-983. 2020
  • The DNA methylation landscape of advanced prostate cancer..  52:778-789. 2020
  • Discovery of 318 new risk loci for type 2 diabetes and related vascular outcomes among 1.4 million participants in a multi-ancestry meta-analysis..  52:680-691. 2020
  • Lymph node metastases develop through a wider evolutionary bottleneck than distant metastases..  52:692-700. 2020
  • A compendium of promoter-centered long-range chromatin interactions in the human genome..  51:1442-1449. 2019
  • Landscape of stimulation-responsive chromatin across diverse human immune cells..  51:1494-1505. 2019
  • Author Correction: Genetic meta-analysis of diagnosed Alzheimer's disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing..  51:1423-1424. 2019
  • Publisher Correction: Multiancestry genome-wide association study of 520,000 subjects identifies 32 loci associated with stroke and stroke subtypes..  51:1192-1193. 2019
  • Publisher Correction: Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity..  51:1191-1192. 2019
  • Multi-ancestry genome-wide gene-smoking interaction study of 387,272 individuals identifies new loci associated with serum lipids..  51:636-648. 2019
  • A statistical framework for cross-tissue transcriptome-wide association analysis..  51:568-576. 2019
  • Genetic meta-analysis of diagnosed Alzheimer's disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing..  51:414-430. 2019
  • ROBO4 variants predispose individuals to bicuspid aortic valve and thoracic aortic aneurysm..  51:42-50. 2019
  • Publisher Correction: Genetic analysis of over 1 million people identifies 535 new loci associated with blood pressure traits..  50:1755. 2018
  • Genetic analysis of over 1 million people identifies 535 new loci associated with blood pressure traits..  50:1412-1425. 2018
  • A precision oncology approach to the pharmacological targeting of mechanistic dependencies in neuroendocrine tumors..  50:979-989. 2018
  • Genome-wide association meta-analysis in 269,867 individuals identifies new genetic and functional links to intelligence..  50:912-919. 2018
  • Multi-ethnic genome-wide association study for atrial fibrillation..  50:1225-1233. 2018
  • Genome-wide association meta-analysis highlights light-induced signaling as a driver for refractive error..  50:834-848. 2018
  • Genome-wide association analyses identify 44 risk variants and refine the genetic architecture of major depression..  50:668-681. 2018
  • Publisher Correction: Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity..  50:765-766. 2018
  • Publisher Correction: Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity..  50:766-767. 2018
  • Multiancestry genome-wide association study of 520,000 subjects identifies 32 loci associated with stroke and stroke subtypes..  50:524-537. 2018
  • Refining the accuracy of validated target identification through coding variant fine-mapping in type 2 diabetes..  50:559-571. 2018
  • Transcriptome-wide association study of schizophrenia and chromatin activity yields mechanistic disease insights..  50:538-548. 2018
  • An aberrant SREBP-dependent lipogenic program promotes metastatic prostate cancer..  50:206-218. 2018
  • Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity..  50:26-41. 2018
  • Exome chip meta-analysis identifies novel loci and East Asian-specific coding variants that contribute to lipid levels and coronary artery disease..  49:1722-1730. 2017
  • The draft genome of tropical fruit durian (Durio zibethinus)..  49:1633-1641. 2017
  • A functional genomics predictive network model identifies regulators of inflammatory bowel disease..  49:1437-1449. 2017
  • Rare coding variants in PLCG2, ABI3, and TREM2 implicate microglial-mediated innate immunity in Alzheimer's disease..  49:1373-1384. 2017
  • Genetic association study of exfoliation syndrome identifies a protective rare variant at LOXL1 and five new susceptibility loci..  49:993-1004. 2017
  • Polygenic transmission disequilibrium confirms that common and rare variation act additively to create risk for autism spectrum disorders..  49:978-985. 2017
  • Genomic analyses identify hundreds of variants associated with age at menarche and support a role for puberty timing in cancer risk..  49:834-841. 2017
  • Large-scale analyses of common and rare variants identify 12 new loci associated with atrial fibrillation..  49:946-952. 2017
  • Genome-wide association study of glioma subtypes identifies specific differences in genetic susceptibility to glioblastoma and non-glioblastoma tumors..  49:789-794. 2017
  • Identification of 12 new susceptibility loci for different histotypes of epithelial ovarian cancer..  49:680-691. 2017
  • Epigenomic reprogramming during pancreatic cancer progression links anabolic glucose metabolism to distant metastasis..  49:367-376. 2017
  • Genome-wide association analysis identifies novel blood pressure loci and offers biological insights into cardiovascular risk..  49:403-415. 2017
  • Multiethnic genome-wide meta-analysis of ectopic fat depots identifies loci associated with adipocyte development and differentiation..  49:125-130. 2017
  • Genome-wide analysis identifies 12 loci influencing human reproductive behavior..  48:1462-1472. 2016
  • Meta-analysis identifies common and rare variants influencing blood pressure and overlapping with metabolic trait loci..  48:1162-1170. 2016
  • The genetics of blood pressure regulation and its target organs from association studies in 342,415 individuals..  48:1171-1184. 2016
  • Characterization of Greater Middle Eastern genetic variation for enhanced disease gene discovery..  48:1071-1076. 2016
  • Meta-analysis of rare and common exome chip variants identifies S1PR4 and other loci influencing blood cell traits..  48:867-876. 2016
  • A missense variant in FGD6 confers increased risk of polypoidal choroidal vasculopathy..  48:640-647. 2016
  • Genome-wide association study identifies five new susceptibility loci for primary angle closure glaucoma..  48:556-562. 2016
  • A large genome-wide association study of age-related macular degeneration highlights contributions of rare and common variants..  48:134-143. 2016
  • Genome-wide association analysis identifies TXNRD2, ATXN2 and FOXC1 as susceptibility loci for primary open-angle glaucoma..  48:189-194. 2016
  • A missense mutation in TFRC, encoding transferrin receptor 1, causes combined immunodeficiency..  48:74-78. 2016
  • Genomic landscapes of breast fibroepithelial tumors..  47:1341-1345. 2015
  • Large-scale genomic analyses link reproductive aging to hypothalamic signaling, breast cancer susceptibility and BRCA1-mediated DNA repair..  47:1294-1303. 2015
  • Trans-ancestry genome-wide association study identifies 12 genetic loci influencing blood pressure and implicates a role for DNA methylation..  47:1282-1293. 2015
  • A comprehensive 1,000 Genomes-based genome-wide association meta-analysis of coronary artery disease..  47:1121-1130. 2015
  • Broad H3K4me3 is associated with increased transcription elongation and enhancer activity at tumor-suppressor genes..  47:1149-1157. 2015
  • Genome-wide significant risk associations for mucinous ovarian carcinoma..  47:888-897. 2015
  • Whole-genome fingerprint of the DNA methylome during human B cell differentiation..  47:746-756. 2015
  • A common variant mapping to CACNA1A is associated with susceptibility to exfoliation syndrome..  47:387-392. 2015
  • Identification of six new susceptibility loci for invasive epithelial ovarian cancer..  47:164-171. 2015
  • Defining the role of common variation in the genomic and biological architecture of adult human height..  46:1173-1186. 2014
  • Common variants near ABCA1 and in PMM2 are associated with primary open-angle glaucoma..  46:1115-1119. 2014
  • Common variants near ABCA1, AFAP1 and GMDS confer risk of primary open-angle glaucoma..  46:1120-1125. 2014
  • Genome-wide analysis of multi-ancestry cohorts identifies new loci influencing intraocular pressure and susceptibility to glaucoma..  46:1126-1130. 2014
  • Genome-wide association study identifies three susceptibility loci for laryngeal squamous cell carcinoma in the Chinese population..  46:1110-1114. 2014
  • Genome-wide association study identifies multiple susceptibility loci for pancreatic cancer..  46:994-1000. 2014
  • Corrigendum: A copy number variation morbidity map of developmental delay..  46:1040. 2014
  • Exome sequencing identifies highly recurrent MED12 somatic mutations in breast fibroadenoma..  46:877-880. 2014
  • Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization..  46:826-836. 2014
  • Exome sequencing identifies somatic gain-of-function PPM1D mutations in brainstem gliomas..  46:726-730. 2014
  • Genome-wide association analysis identifies six new loci associated with forced vital capacity..  46:669-677. 2014
  • Variants near TERT and TERC influencing telomere length are associated with high-grade glioma risk..  46:731-735. 2014
  • An atlas of genetic influences on human blood metabolites..  46:543-550. 2014
  • Germline and somatic SMARCA4 mutations characterize small cell carcinoma of the ovary, hypercalcemic type..  46:438-443. 2014
  • Genome-wide trans-ancestry meta-analysis provides insight into the genetic architecture of type 2 diabetes susceptibility..  46:234-244. 2014
  • Exome sequencing identifies distinct mutational patterns in liver fluke-related and non-infection-related bile duct cancers..  45:1474-1478. 2013
  • Common variants associated with plasma triglycerides and risk for coronary artery disease..  45:1345-1352. 2013
  • Discovery and refinement of loci associated with lipid levels..  45:1274-1283. 2013
  • Genome-wide association study identifies multiple susceptibility loci for pulmonary fibrosis..  45:1409. 2013
  • The integrated landscape of driver genomic alterations in glioblastoma..  45:1141-1149. 2013
  • Genetic relationship between five psychiatric disorders estimated from genome-wide SNPs..  45:984-994. 2013
  • Genome-wide association study identifies multiple risk loci for chronic lymphocytic leukemia..  45:868-876. 2013
  • A meta-analysis identifies new loci associated with body mass index in individuals of African ancestry..  45:690-696. 2013
  • Identification of heart rate-associated loci and their effects on cardiac conduction and rhythm disorders..  45:621-631. 2013
  • A variant in FTO shows association with melanoma risk not due to BMI..  45:428-432e1. 2013
  • GWAS meta-analysis and replication identifies three new susceptibility loci for ovarian cancer..  45:362-370e2. 2013
  • Identification of 23 new prostate cancer susceptibility loci using the iCOGS custom genotyping array..  45:385-391e2. 2013
  • Multiple independent variants at the TERT locus are associated with telomere length and risks of breast and ovarian cancer..  45:371-384e2. 2013
  • Seven new loci associated with age-related macular degeneration..  45:433-439e2. 2013
  • Genome-wide meta-analyses of multiancestry cohorts identify multiple new susceptibility loci for refractive error and myopia..  45:314-318. 2013
  • Genome-wide association analyses identify multiple loci associated with central corneal thickness and keratoconus..  45:155-163. 2013
  • Large-scale association analysis identifies new risk loci for coronary artery disease..  45:25-33. 2013
  • Common genetic variants in the CLDN2 and PRSS1-PRSS2 loci alter risk for alcohol-related and sporadic pancreatitis..  44:1349-1354. 2012
  • The genetic landscape of mutations in Burkitt lymphoma..  44:1321-1325. 2012
  • A low-frequency variant at 8q24.21 is strongly associated with risk of oligodendroglial tumors and astrocytomas with IDH1 or IDH2 mutation..  44:1122-1125. 2012
  • Genome-wide association analyses identify three new susceptibility loci for primary angle closure glaucoma..  44:1142-1146. 2012
  • De novo mutations in ATP1A3 cause alternating hemiplegia of childhood..  44:1030-1034. 2012
  • Exome sequencing identifies recurrent somatic RAC1 mutations in melanoma..  44:1006-1014. 2012
  • Large-scale association analyses identify new loci influencing glycemic traits and provide insight into the underlying biological pathways..  44:991-1005. 2012
  • Meta-analysis identifies multiple loci associated with kidney function-related traits in east Asian populations..  44:904-909. 2012
  • Mosaic overgrowth with fibroadipose hyperplasia is caused by somatic activating mutations in PIK3CA..  44:928-933. 2012
  • A genome-wide approach accounting for body mass index identifies genetic variants influencing fasting glycemic traits and insulin resistance..  44:659-669. 2012
  • Detectable clonal mosaicism from birth to old age and its relationship to cancer..  44:642-650. 2012
  • Exome sequencing of liver fluke-associated cholangiocarcinoma..  44:690-693. 2012
  • Exome sequencing of gastric adenocarcinoma identifies recurrent somatic mutations in cell adhesion and chromatin remodeling genes..  44:570-574. 2012
  • Meta-analysis identifies six new susceptibility loci for atrial fibrillation..  44:670-675. 2012
  • Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture..  44:491-501. 2012
  • Two new susceptibility loci for Kawasaki disease identified through genome-wide association analysis..  44:522-525. 2012
  • Mutations affecting the cytoplasmic functions of the co-chaperone DNAJB6 cause limb-girdle muscular dystrophy..  44:450-S2. 2012
  • Meta-analysis identifies common variants associated with body mass index in east Asians..  44:307-311. 2012
  • Meta-analysis of genome-wide association studies identifies eight new loci for type 2 diabetes in east Asians..  44:67-72. 2011
  • Genome-wide association study identifies FCGR2A as a susceptibility locus for Kawasaki disease..  43:1241-1246. 2011
  • Genome-wide association study identifies loci influencing concentrations of liver enzymes in plasma..  43:1131-1138. 2011
  • Genome-wide association study identifies a new melanoma susceptibility locus at 1q21.3..  43:1114-1118. 2011
  • Genome-wide association study identifies three new melanoma susceptibility loci..  43:1108-1113. 2011
  • Genome-wide association and large-scale follow up identifies 16 new loci influencing lung function..  43:1082-1090. 2011
  • Genome-wide association study in individuals of South Asian ancestry identifies six new type 2 diabetes susceptibility loci..  43:984-989. 2011
  • A copy number variation morbidity map of developmental delay..  43:838-846. 2011
  • Phosphoglycerate dehydrogenase diverts glycolytic flux and contributes to oncogenesis..  43:869-874. 2011
  • Seven prostate cancer susceptibility loci identified by a multi-stage genome-wide association study..  43:785-791. 2011
  • Genetic variation near IRS1 associates with reduced adiposity and an impaired metabolic profile..  43:753-760. 2011
  • Genome-wide association study of prostate cancer in men of African ancestry identifies a susceptibility locus at 17q21..  43:570-573. 2011
  • Meta-analysis of genome-wide association studies identifies common variants associated with blood pressure variation in east Asians..  43:531-538. 2011
  • Common variants at MS4A4/MS4A6E, CD2AP, CD33 and EPHA1 are associated with late-onset Alzheimer's disease..  43:436-441. 2011
  • Ancestry and pharmacogenomics of relapse in acute lymphoblastic leukemia..  43:237-241. 2011
  • Mutations in WDR62, encoding a centrosome-associated protein, cause microcephaly with simplified gyri and abnormal cortical architecture..  42:1015-1020. 2010
  • A genome-wide association study for myopia and refractive error identifies a susceptibility locus at 15q25..  42:902-905. 2010
  • A genome-wide association study identifies a susceptibility locus for refractive errors and myopia at 15q14..  42:897-901. 2010
  • A genome-wide association study identifies susceptibility loci for ovarian cancer at 2q31 and 8q24..  42:874-879. 2010
  • Common variants at 19p13 are associated with susceptibility to ovarian cancer..  42:880-884. 2010
  • Common variants near CAV1 and CAV2 are associated with primary open-angle glaucoma..  42:906-909. 2010
  • Genome-wide association study identifies a sequence variant within the DAB2IP gene conferring susceptibility to abdominal aortic aneurysm..  42:692-697. 2010
  • Genome-wide association study of follicular lymphoma identifies a risk locus at 6p21.32..  42:661-664. 2010
  • Genome-wide meta-analyses identify multiple loci associated with smoking behavior..  42:441-447. 2010
  • A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay..  42:203-209. 2010
  • Common variants at 7p21 are associated with frontotemporal lobar degeneration with TDP-43 inclusions..  42:234-239. 2010
  • Genes determining blood cell traits..  41:1161-1162. 2009
  • SOX2 is an amplified lineage-survival oncogene in lung and esophageal squamous cell carcinomas..  41:1238-1242. 2009
  • T (brachyury) gene duplication confers major susceptibility to familial chordoma..  41:1176-1178. 2009
  • Identification of seven new prostate cancer susceptibility loci through a genome-wide association study..  41:1116-1121. 2009
  • A genome-wide association study identifies a new ovarian cancer susceptibility locus on 9p22.2..  41:996-1000. 2009
  • Genetics of cardiac repolarization..  41:388-389. 2009
  • Multiple recurrent genetic events converge on control of histone lysine methylation in medulloblastoma..  41:465-472. 2009
  • Sequence variants affecting eosinophil numbers associate with asthma and myocardial infarction..  41:342-347. 2009
  • Control of rice grain-filling and yield by a gene with a potential signature of domestication..  40:1370-1374. 2008
  • The Hippocratic finger points the blame at PGE2..  40:691-692. 2008
  • Mutations in TMPRSS6 cause iron-refractory iron deficiency anemia (IRIDA)..  40:569-571. 2008
  • The same sequence variant on 9p21 associates with myocardial infarction, abdominal aortic aneurysm and intracranial aneurysm..  40:217-224. 2008
  • Corrigendum: a common variant mapping to CACNA1A is associated with susceptibility to exfoliation syndrome..  47:689. 2015