Nature Genetics

Exome sequencing identifies rare damaging variants in ATP8B4 and ABCA1 as risk factors for Alzheimer’s disease.  54:1786-1794. 2022

Novel genetic loci associated with osteoarthritis in multi-ancestry analyses in the Million Veteran Program and UK Biobank.  54:1816-1826. 2022

Multi-ancestry genome-wide association analyses identify novel genetic mechanisms in rheumatoid arthritis.  54:1640-1651. 2022

The genomic landscape of pediatric acute lymphoblastic leukemia.  54:1376-1389. 2022

Genetic regulation of OAS1 nonsense-mediated decay underlies association with COVID-19 hospitalization in patients of European and African ancestries.  54:1103-1116. 2022

Author Correction: A genome-wide association study with 1,126,563 individuals identifies new risk loci for Alzheimer’s disease (Nature Genetics, (2021), 53, 9, (1276-1282), 10.1038/s41588-021-00921-z).  54:1062. 2022

Assessing the contribution of rare variants to complex trait heritability from whole-genome sequence data.  54:263-273. 2022

The UGT2A1/UGT2A2 locus is associated with COVID-19-related loss of smell or taste.  54:121-124. 2022

Powerful, scalable and resource-efficient meta-analysis of rare variant associations in large whole genome sequencing studies 2022

Author Correction: A high-resolution HLA reference panel capturing global population diversity enables multi-ancestry fine-mapping in HIV host response (Nature Genetics, (2021), 53, 10, (1504-1516), 10.1038/s41588-021-00935-7).  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

Fine-mapping, trans-ancestral and genomic analyses identify causal variants, cells, genes and drug targets for type 1 diabetes.  53:962-971. 2021

Large-scale association analyses identify host factors influencing human gut microbiome composition.  53:156-165. 2021

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

Pan-cancer analysis of whole genomes identifies driver rearrangements promoted by LINE-1 retrotransposition.  52:306-319. 2020

Author Correction: Genetic meta-analysis of diagnosed Alzheimer’s disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing (Nature Genetics, (2019), 51, 3, (414-430), 10.1038/s41588-019-0358-2).  51:1423-1424. 2019

Publisher Correction: Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity (Nature Genetics, (2018), 50, 1, (26-41), 10.1038/s41588-017-0011-x).  51:1191-1192. 2019

Genome-wide association study identifies 30 loci associated with bipolar disorder.  51:793-803. 2019

Genomic subtyping and therapeutic targeting of acute erythroleukemia.  51:694-704. 2019

Multi-ancestry genome-wide gene–smoking interaction study of 387,272 individuals identifies new loci associated with serum lipids.  51:636-648. 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

A precision oncology approach to the pharmacological targeting of mechanistic dependencies in neuroendocrine tumors.  50:979-989. 2018

Multiplex assessment of protein variant abundance by massively parallel sequencing.  50:874-882. 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

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

Publisher correction: Multiancestry genome-wide association study of 520,000 subjects identifies 32 loci associated with stroke and stroke subtypes(Nature Genetics, (2018) 50, 4, (524-537), 10.1038/s41588-018-0058-3).  51:1192-1193. 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

The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies.  49:36-45. 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

A large genome-wide association study of age-related macular degeneration highlights contributions of rare and common variants.  48:134-143. 2016

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

Fine mapping of type 1 diabetes susceptibility loci and evidence for colocalization of causal variants with lymphoid gene enhancers.  47:381-386. 2015

Discovery of new risk loci for IgA nephropathy implicates genes involved in immunity against intestinal pathogens.  46:1187-1196. 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

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

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

Genome-wide association study identifies loci influencing concentrations of liver enzymes in plasma.  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

Genome-wide association study identifies susceptibility loci for IgA nephropathy.  43:321-329. 2011

Targets and dynamics of promoter DNA methylation during early mouse development.  42:1093-1100. 2010

Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index.  42:937-948. 2010

Androgen-induced TOP2B-mediated double-strand breaks and prostate cancer gene rearrangements.  42:668-675. 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

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

Genome-wide association study identifies new multiple sclerosis susceptibility loci on chromosomes 12 and 20.  41:824-828. 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

Usp46 is a quantitative trait gene regulating mouse immobile behavior in the tail suspension and forced swimming tests.  41:688-695. 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

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

Chaotic license for genetic instability and cancer.  39:10-11. 2007

Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy.  39:1007-1012. 2007

Conservation of hotspots for recombination in low-copy repeats associated with the NF1 microdeletion.  38:1419-1423. 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

Chromosome stability, in the absence of apoptosis, is critical for suppression of tumorigenesis in Trp53 mutant mice.  36:63-68. 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

Mutant dynactin in motor neuron disease.  33:455-456. 2003

Evidence for an epigenetic mechanism by which Hsp90 acts as a capacitor for morphological evolution.  33:70-74. 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

Rescue of embryonic lethality in Mdm4-null mice by loss of Trp53 suggests a nonoverlapping pathway with MDM2 to regulate p53.  29:92-95. 2001

Imprinted X inactivation maintained by a mouse Polycomb group gene.  28:371-375. 2001

Mutations in GFAP, encoding glial fibrillary acidic protein, are associated with Alexander disease.  27:117-120. 2001

Gene therapy restores vision in a canine model of childhood blindness.  28:92-95. 2001

IgA nephropathy, the most common cause of glomerulonephritis, is linked to 6q22-23.  26:354-357. 2000

The genetically isolated populations of Finland and Sardinia may not be a panacea for linkage disequilibrium mapping of common disease genes.  25:320-323. 2000

Mutation of a nuclear receptor gene, NR2E3, causes enhanced S cone syndrome, a disorder of retinal cell fate.  24:127-131. 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

Alpha-2 macroglobulin is genetically associated with Alzheimer disease.  19:357-360. 1998

Mutations in CDMP1 cause autosomal dominant brachydactyly type C..  17:18-19. 1997

Unstable minisatellite expansion causing recessively inherited myoclonus epilepsy, EPM1.  15:393-396. 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

Release of an inhibitor of angiogenesis upon induction of wild type p53 expression in glioblastoma cells..  8:171-176. 1994

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