Nature Genetics

Journal

Publication Venue For

  • Genetic landscape of chronic obstructive pulmonary disease identifies heterogeneous cell-type and phenotype associations.  51:494-505. 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
  • Protein-coding variants implicate novel genes related to lipid homeostasis contributing to body-fat distribution.  51:452-469. 2019
  • PAX5-driven subtypes of B-progenitor acute lymphoblastic leukemia.  51:296-307. 2019
  • Erratum to: Genetic analysis of over 1 million people identifies 535 new loci associated with blood pressure traits (Nature Genetics, (2018), 50, 10, (1412-1425), 10.1038/s41588-018-0205-x).  50:1755. 2018
  • Genetic analysis of over 1 million people identifies 535 new loci associated with blood pressure traits.  50:1412-1425. 2018
  • Multiplex assessment of protein variant abundance by massively parallel sequencing.  50:874-882. 2018
  • Author Correction: Genome-wide analysis of multi- and extensively drug-resistant Mycobacterium tuberculosis.  1. 2018
  • Multiancestry genome-wide association study of 520,000 subjects identifies 32 loci associated with stroke and stroke subtypes.  50:524-537. 2018
  • Plain-language medical vocabulary for precision diagnosis /692/700/478 /631/208/1516 correspondence.  50:474-476. 2018
  • Transcriptome-wide association study of schizophrenia and chromatin activity yields mechanistic disease insights..  50:538-548. 2018
  • Correction: Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity (Nature Genetics DOI: 10.1038/s41588-017-0011-x).  50:765-766. 2018
  • Correction: Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity (Nature Genetics DOI: 10.1038/s41588-017-0011-x).  50:766-767. 2018
  • Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity.  50:26-35. 2018
  • Rare coding variants in PLCG2, ABI3, and TREM2 implicate microglial-mediated innate immunity in Alzheimer's disease.  49:1373-1384. 2017
  • The genomic landscape of pediatric and young adult T-lineage acute lymphoblastic leukemia.  49:1211-1218. 2017
  • Polygenic transmission disequilibrium confirms that common and rare variation act additively to create risk for autism spectrum disorders.  49:978-985. 2017
  • Identification of 12 new susceptibility loci for different histotypes of epithelial ovarian cancer.  49:680-691. 2017
  • A reference panel of 64,976 haplotypes for genotype imputation.  48:1279-1283. 2016
  • Genetic predisposition for beta cell fragility underlies type 1 and type 2 diabetes.  48:519-527. 2016
  • Erratum: Common variants at 19p13 are associated with susceptibility to ovarian cancer (Nature Genetics (2010) 42 (880-884)).  48:101. 2015
  • Genetic fine mapping and genomic annotation defines causal mechanisms at type 2 diabetes susceptibility loci.  47:1415-1425. 2015
  • Chimeric EWSR1-FLI1 regulates the Ewing sarcoma susceptibility gene EGR2 via a GGAA microsatellite.  47:1073-1078. 2015
  • NALP3 inflammasome upregulation and CASP1 cleavage of the glucocorticoid receptor cause glucocorticoid resistance in leukemia cells.  47:607-614. 2015
  • High-density mapping of the MHC identifies a shared role for HLA-DRB1∗01:03 in inflammatory bowel diseases and heterozygous advantage in ulcerative colitis.  47:172-179. 2015
  • Discovery of new risk loci for IgA nephropathy implicates genes involved in immunity against intestinal pathogens.  46:1187-1196. 2014
  • Genome-wide association study identifies multiple susceptibility loci for diffuse large B cell lymphoma.  46:1233-1238. 2014
  • PRC2 is recurrently inactivated through EED or SUZ12 loss in malignant peripheral nerve sheath tumors.  46:1227-1232. 2014
  • Germline loss-of-function mutations in LZTR1 predispose to an inherited disorder of multiple schwannomas.  46:182-187. 2014
  • Large-scale meta-analysis of genome-wide association data identifies six new risk loci for Parkinson's disease.  46:989-993. 2014
  • Frequent truncating mutations of STAG2 in bladder cancer.  45:1428-1430. 2013
  • Somatic mutation of CDKN1B in small intestine neuroendocrine tumors.  45:1483-1486. 2013
  • The cancer genome atlas pan-cancer analysis project.  45:1113-1120. 2013
  • Genetic relationship between five psychiatric disorders estimated from genome-wide SNPs.  45:984-994. 2013
  • A meta-analysis identifies new loci associated with body mass index in individuals of African ancestry.  45:690-696. 2013
  • Crowdsourcing genetic prediction of clinical utility in the Rheumatoid Arthritis Responder Challenge.  45:468-469. 2013
  • GWAS meta-analysis and replication identifies three new susceptibility loci for ovarian cancer.  45:362-370. 2013
  • Mutations causing medullary cystic kidney disease type 1 lie in a large VNTR in MUC1 missed by massively parallel sequencing.  45:299-303. 2013
  • The genomic landscape of hypodiploid acute lymphoblastic leukemia.  45:242-252. 2013
  • Genome-wide association analyses identify 18 new loci associated with serum urate concentrations.  45:145-154. 2013
  • Genome-wide association analyses identify 18 new loci associated with serum urate concentrations.  45:145-154. 2013
  • Genome-wide association analyses identify 18 new loci associated with serum urate concentrations.  45:145-154. 2013
  • David R. Cox 1946-2013..  45:716. 2013
  • Common genetic variants in the CLDN2 and PRSS1-PRSS2 loci alter risk for alcohol-related and sporadic pancreatitis.  44:1349-1354. 2012
  • CSK regulatory polymorphism is associated with systemic lupus erythematosus and influences B-cell signaling and activation.  44:1227-1230. 2012
  • Deep resequencing of GWAS loci identifies independent rare variants associated with inflammatory bowel disease.  43:1066-1073. 2011
  • Genome-wide association study identifies loci influencing concentrations of liver enzymes in plasma.  43 43:1131-1138. 2011
  • Genome-wide association study identifies a susceptibility locus for thoracic aortic aneurysms and aortic dissections spanning FBN1 at 15q21.1.  43:996-1002. 2011
  • Genome-wide association study identifies six new loci influencing pulse pressure and mean arterial pressure.  43:1005-1012. 2011
  • Large-scale genome-wide association analysis of bipolar disorder identifies a new susceptibility locus near ODZ4.  43:977-985. 2011
  • Common variants at MS4A4/MS4A6E, CD2AP, CD33 and EPHA1 are associated with late-onset Alzheimer's disease.  43:436-443. 2011
  • Ancestry and pharmacogenomics of relapse in acute lymphoblastic leukemia.  43:237-241. 2011
  • Association of a functional variant downstream of TNFAIP3 with systemic lupus erythematosus.  43:253-258. 2011
  • Erratum: Genome-wide association identifies multiple ulcerative colitis susceptibility loci.  43:388. 2011
  • Erratum: Twelve type 2 diabetes susceptibility loci identified through large-scale association analysis.  43:388. 2011
  • Genome-wide association study identifies susceptibility loci for IgA nephropathy.  43:321-329. 2011
  • Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index.  42:937-948. 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
  • Androgen-induced TOP2B-mediated double-strand breaks and prostate cancer gene rearrangements.  42:668-675. 2010
  • Twelve type 2 diabetes susceptibility loci identified through large-scale association analysis.  42:579-589. 2010
  • Genome-wide association identifies multiple ulcerative colitis susceptibility loci.  42:332-337. 2010
  • Mixed linear model approach adapted for genome-wide association studies.  42:355-360. 2010
  • Common genetic variation in the HLA region is associated with late-onset sporadic Parkinson’s disease.  42:781. 2010
  • Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci.  42:1118-1125. 2010
  • KLF1 regulates BCL11A expression and γ- to β-globin gene switching.  42:742-744. 2010
  • A large-scale replication study identifies TNIP1, PRDM1, JAZF1, UHRF1BP1 and IL10 as risk loci for systemic lupus erythematosus.  41:1228-1233. 2009
  • Rearrangement of CRLF2 in B-progenitor-and Down syndrome-associated acute lymphoblastic leukemia.  41:1243-1246. 2009
  • REL, encoding a member of the NF-B family of transcription factors, is a newly defined risk locus for rheumatoid arthritis.  41:820-823. 2009
  • Genome-wide association study and meta-analysis find that over 40 loci affect risk of type 1 diabetes.  41:703-707. 2009
  • Multiple recurrent genetic events converge on control of histone lysine methylation in medulloblastoma.  41:465-472. 2009
  • α-Synuclein is part of a diverse and highly conserved interaction network that includes PARK9 and manganese toxicity.  41:308-315. 2009
  • Repeatability of published microarray gene expression analyses.  41:149-155. 2009
  • MYH9 is associated with nondiabetic end-stage renal disease in African Americans.  40:1185-1192. 2008
  • Ribosomal mutations cause p53-mediated dark skin and pleiotropic effects.  40:963-970. 2008
  • THM1 negatively modulates mouse sonic hedgehog signal transduction and affects retrograde intraflagellar transport in cilia.  40:403-410. 2008
  • A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures.  40:322-328. 2008
  • A nonsynonymous functional variant in integrin-αM (encoded by ITGAM) is associated with systemic lupus erythematosus.  40:152-154. 2008
  • Corrigendum: Mutations in smooth muscle α-actin (ACTA2) lead to thoracic aortic aneurysms and dissections (Nature Genetics (2007) 39, (1488-1493)).  40:255. 2008
  • Genome-wide association scan in women with systemic lupus erythematosus identifies susceptibility variants in ITGAM, PXK, KIAA1542 and other loci.  40:204-210. 2008
  • Ciliary proteins link basal body polarization to planar cell polarity regulation.  40:69-77. 2008
  • Closing gaps in the human genome with fosmid resources generated from multiple individuals..  40:96-101. 2008
  • Genome-wide association defines more than 30 distinct susceptibility loci for Crohn's disease.  40:955-962. 2008
  • Mutations in smooth muscle α-actin (ACTA2) lead to thoracic aortic aneurysms and dissections.  39:1488-1493. 2007
  • Germline loss-of-function mutations in SPRED1 cause a neurofibromatosis 1-like phenotype.  39:1120-1126. 2007
  • Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy.  39:1007-1012. 2007
  • Genome-wide association study identifies new susceptibility loci for Crohn disease and implicates autophagy in disease pathogenesis.  39:596-604. 2007
  • Conservation of hotspots for recombination in low-copy repeats associated with the NF1 microdeletion.  38:1419-1423. 2006
  • A high-resolution HLA and SNP haplotype map for disease association studies in the extended human MHC.  38:1166-1172. 2006
  • TRPC6 is a glomerular slit diaphragm-associated channel required for normal renal function.  37:739-744. 2005
  • Complex trait analysis of gene expression uncovers polygenic and pleiotropic networks that modulate nervous system function.  37:233-242. 2005
  • Regulation of polarized extension and planar cell polarity in the cochlea by the vertebrate PCP pathway.  37:980-985. 2005
  • Constitutional aneuploidy and cancer predisposition caused by biallelic mutations in BUB1B.  36:1159-1161. 2004
  • Towards sound epistemological foundations of statistical methods for high-dimensional biology.  36:943-947. 2004
  • The Collaborative Cross, a community resource for the genetic analysis of complex traits.  36:1133-1137. 2004
  • Dopa decarboxylase (Ddc) affects variation in Drosophila longevity.  34:429-433. 2003
  • Genetic background is an important determinant of metastatic potential [2].  34:23-25. 2003
  • Cbfβ interacts with RUNX2 and has a critical role in bone development.  32:639-644. 2002
  • Synaptic defects in ataxia mice result from a mutation in Usp14, encoding a ubiquitin-specific protease.  32:420-425. 2002
  • c-fos regulates neuronal excitability and survival.  30:416-420. 2002
  • Genetic variation in the 5q31 cytokine gene cluster confers susceptibility to Crohn disease.  29:223-228. 2001
  • Imprinted X inactivation maintained by a mouse Polycomb group gene.  28:371-375. 2001
  • A susceptibility locus for asthma-related traits on chromosome 7 revealed by genome-wide scan in a founder population.  28:87-91. 2001
  • Mutations in GFAP, encoding glial fibrillary acidic protein, are associated with Alexander disease.  27:117-120. 2001
  • IgA nephropathy, the most common cause of glomerulonephritis, is linked to 6q22-23.  26:354-357. 2000
  • Abnormal adaptations to stress and impaired cardiovascular function in mice lacking corticotropin-releasing hormone receptor-2.  24:403-409. 2000
  • CACP, encoding a secreted proteoglycan, is mutated in camptodactyly- arthropathy-coxa vara-pericarditis syndrome.  23:319-322. 1999
  • Mutations in the homeodomain of the human SIX3 gene cause holoprosencephaly.  22:196-198. 1999
  • Progressive ataxia, myoclonic epilepsy and cerebellar apoptosis in cystatin B-deficient mice.  20:251-258. 1998
  • Unstable minisatellite expansion causing recessively inherited myoclonus epilepsy, EPM1.  15:393-396. 1997
  • Mutations in CDMP1 cause autosomal dominant brachydactyly type C..  17:18-19. 1997
  • Retinal-specific guanylate cyclase gene mutations in Leber's congenital amaurosis.  14:461-464. 1996
  • Genetic analysis of ageing: Role of oxidative damage and environmental stresses.  13:25-34. 1996
  • A map to the future.  12:117-118. 1996
  • A potassium channel mutation in weaver mice implicates membrane excitability in granule cell differentiation.  11:126-129. 1995
  • Autosomal recessive retinitis pigmentosa caused by mutations in the α subunit of rod cGMP phosphodiesterase.  11:468-471. 1995
  • Opitz syndrome is genetically heterogeneous, with one locus on Xp22, and a second locus on 22q11.2.  11:459-461. 1995
  • A common mutation in the fibroblast growth factor receptor 1 gene in Pfeiffer syndrome.  8:269-274. 1994
  • Mitochondrial diabetes revisited.  7:458-459. 1994
  • Occipital horn syndrome and a mild Menkes phenotype associated with splice site mutations at the MNK locus.  8:195-202. 1994
  • De novo expansion of a (CAG)n repeat in sporadic Huntington's disease.  5:168-173. 1993
  • Discrepancy resolved.  5:215. 1993
  • Trinucleotide repeat length instability and age of onset in Huntington's disease.  4:387-392. 1993
  • Widespread expression of the human and rat Huntington's disease gene in brain and nonneural tissues.  5:259-265. 1993
  • Maternally transmitted diabetes and deafness associated with a 10.4 kb mitochondrial DNA deletion.  1:11-15. 1992
  • The Huntington's disease candidate region exhibits many different haplotypes.  1:99-103. 1992
  • International Standard Serial Number (issn)

  • 1061-4036
  • Electronic International Standard Serial Number (eissn)

  • 1546-1718