Nature Genetics

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  Publication Venue For

  • 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
  • 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
  • Transcriptome-wide association study of schizophrenia and chromatin activity yields mechanistic disease insights..  50:538-548. 2018
  • Publisher Correction: Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity. 2018
  • Publisher Correction: Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity. 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
  • Computational correction of copy number effect improves specificity of CRISPR–Cas9 essentiality screens in cancer cells.  49:1779-1784. 2017
  • 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
  • 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
  • Hacking DNA copy number for circuit engineering..  49:1164-1165. 2017
  • Polygenic transmission disequilibrium confirms that common and rare variation act additively to create risk for autism spectrum disorders..  49:978-985. 2017
  • Finding useful data across multiple biomedical data repositories using DataMed.  49:816-819. 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
  • SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome..  49:238-248. 2017
  • 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
  • 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
  • Erratum: Common variants at 19p13 are associated with susceptibility to ovarian cancer (Nature Genetics (2010) 42 (880-884)).  48:101. 2015
  • 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-U145. 2015
  • A common variant mapping to CACNA1A is associated with susceptibility to exfoliation syndrome..  47:387-392. 2015
  • Genetic architecture of artemisinin-resistant Plasmodium falciparum..  47:226-234. 2015
  • Identification of six new susceptibility loci for invasive epithelial ovarian cancer..  47:164-171. 2015
  • 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
  • Exome sequencing identifies somatic gain-of-function PPM1D mutations in brainstem gliomas..  46:726-730. 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
  • Genomic analysis of diffuse intrinsic pontine gliomas identifies three molecular subgroups and recurrent activating ACVR1 mutations..  46:451-456. 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 highly recurrent MED12 somatic mutations in breast fibroadenoma.  46:877-880. 2014
  • Exome sequencing identifies somatic gain-of-function PPM1D mutations in brainstem gliomas.  46:726-730. 2014
  • Genomic analysis of diffuse intrinsic pontine gliomas identifies three molecular subgroups and recurrent activating ACVR1 mutations.  46:451-456. 2014
  • Germline and somatic SMARCA4 mutations characterize small cell carcinoma of the ovary, hypercalcemic type.  46:438-443. 2014
  • Lis1 regulates asymmetric division in hematopoietic stem cells and in leukemia.  46:245-252. 2014
  • Exome sequencing identifies distinct mutational patterns in liver fluke-related and non-infection-related bile duct cancers.  45:1474-1478. 2013
  • Exome sequencing identifies distinct mutational patterns in liver fluke-related and non-infection-related bile duct cancers..  45:1474-1478. 2013
  • Meta-analysis of 74,046 individuals identifies 11 new susceptibility loci for Alzheimer's disease..  45:1452-1458. 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
  • Rare variants in CFI, C3 and C9 are associated with high risk of advanced age-related macular degeneration.  45:1366-1373. 2013
  • Rare variants in CFI, C3 and C9 are associated with high risk of advanced age-related macular degeneration..  45:1366-1370. 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
  • A functional variant in the CFI gene confers a high risk of age-related macular degeneration..  45:813-817. 2013
  • A meta-analysis identifies new loci associated with body mass index in individuals of African ancestry..  45:690-696. 2013
  • Erratum: Genome-wide meta-analyses of multiancestry cohorts identify multiple new susceptibility loci for refractive error and myopia (Nature Genetics (2013) 45 (314-318)).  45:712. 2013
  • Multiple populations of artemisinin-resistant Plasmodium falciparum in Cambodia..  45:648-655. 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
  • A functional variant in the CFI gene confers a high risk of age-related macular degeneration.  45:813-817. 2013
  • Large-scale association analysis identifies new risk loci for coronary artery disease..  45:25-33. 2013
  • The integrated landscape of driver genomic alterations in glioblastoma.  45:1141-1149. 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
  • Vertebrate kidney tubules elongate using a planar cell polarity-dependent, rosette-based mechanism of convergent extension..  44:1382-1387. 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
  • Meta-analysis identifies multiple loci associated with kidney function-related traits in east Asian populations..  44:904-909. 2012
  • FAN1 mutations cause karyomegalic interstitial nephritis, linking chronic kidney failure to defective DNA damage repair..  44:910-915. 2012
  • Exome sequencing of liver fluke-associated cholangiocarcinoma..  44:690-693. 2012
  • Detectable clonal mosaicism from birth to old age and its relationship to cancer..  44:642-650. 2012
  • Exome sequencing of gastric adenocarcinoma identifies recurrent somatic mutations in cell adhesion and chromatin remodeling genes..  44:570-574. 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-analyses identify 13 loci associated with age at menopause and highlight DNA repair and immune pathways..  44:260-268. 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
  • A rare penetrant mutation in CFH confers high risk of age-related macular degeneration..  43:1232-1236. 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 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
  • A transition zone complex regulates mammalian ciliogenesis and ciliary membrane composition..  43:776-784. 2011
  • Genome-wide association study of prostate cancer in men of African ancestry identifies a susceptibility locus at 17q21..  43:570-573. 2011
  • KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes..  43:601-606. 2011
  • Common variants at MS4A4/MS4A6E, CD2AP, CD33 and EPHA1 are associated with late-onset Alzheimer's disease..  43:436-441. 2011
  • Erratum: TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum (Nat. Genet. (2011) 43 (189-196).  43:499. 2011
  • Ancestry and pharmacogenomics of relapse in acute lymphoblastic leukemia..  43:237-241. 2011
  • TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum..  43:189-196. 2011
  • CCDC39 is required for assembly of inner dynein arms and the dynein regulatory complex and for normal ciliary motility in humans and dogs..  43:72-78. 2011
  • Meta-analysis of genome-wide association studies identifies common variants associated with blood pressure variation in east Asians.  43:531-538. 2011
  • Thirty new loci for age at menarche identified by a meta-analysis of genome-wide association studies.  42:1077-1085. 2010
  • 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-+. 2010
  • A genome-wide association study identifies susceptibility loci for ovarian cancer at 2q31 and 8q24..  42:874-879. 2010
  • Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy..  42:840-850. 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 meta-analyses identify multiple loci associated with smoking behavior..  42:441-447. 2010
  • Nucleosome dynamics define transcriptional enhancers.  42:343-347. 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
  • Genome-wide association study identifies a sequence variant within the DAB2IP gene conferring susceptibility to abdominal aortic aneurysm.  42:692-697. 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
  • Wnt9b signaling regulates planar cell polarity and kidney tubule morphogenesis..  41:793-799. 2009
  • A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies..  41:739-745. 2009
  • Genome-wide and fine-resolution association analysis of malaria in West Africa..  41:657-665. 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
  • Reply to "Rapidly evolving human promoter regions".  40:1263-1264. 2008
  • Corrigendum: Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome (Nature Genetics (2008) 40, (443-448)).  40:927. 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
  • Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome..  40:443-448. 2008
  • The same sequence variant on 9p21 associates with myocardial infarction, abdominal aortic aneurysm and intracranial aneurysm..  40:217-224. 2008
  • Disruption of the basal body compromises proteasomal function and perturbs intracellular Wnt response..  39:1350-1360. 2007
  • Interleukin 7 receptor alpha chain (IL7R) shows allelic and functional association with multiple sclerosis..  39:1083-1091. 2007
  • Mutations in UPF3B, a member of the nonsense-mediated mRNA decay complex, cause syndromic and nonsyndromic mental retardation..  39:1127-1133. 2007
  • Promoter regions of many neural- and nutrition-related genes have experienced positive selection during human evolution..  39:1140-1144. 2007
  • Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy..  39:1007-1012. 2007
  • Genetic variation in Mon1a affects protein trafficking and modifies macrophage iron loading in mice..  39:1025-1032. 2007
  • Multiple regions within 8q24 independently affect risk for prostate cancer..  39:638-644. 2007
  • Distinct and predictive chromatin signatures of transcriptional promoters and enhancers in the human genome..  39:311-318. 2007
  • Mapping autism risk loci using genetic linkage and chromosomal rearrangements..  39:319-328. 2007
  • Convergent adaptation of human lactase persistence in Africa and Europe..  39:31-40. 2007
  • Positional cloning uncovers mutations in PLCE1 responsible for a nephrotic syndrome variant that may be reversible..  38:1397-1405. 2006
  • Genome-wide analysis of estrogen receptor binding sites.  38:1289-1297. 2006
  • R-spondin1 tips the balance in sex determination..  38:1233-1234. 2006
  • A WNK in the kidney controls blood pressure..  38:1105-1106. 2006
  • A high-resolution HLA and SNP haplotype map for disease association studies in the extended human MHC..  38:1166-1172. 2006
  • The ciliary proteome database: an integrated community resource for the genetic and functional dissection of cilia..  38:961-962. 2006
  • Has the chimpanzee Y chromosome been sequenced?.  38:853-854. 2006
  • A common variant associated with prostate cancer in European and African populations..  38:652-658. 2006
  • Erratum: BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus (Nature Genetics (2006) 38 (521-524)).  38:727. 2006
  • Viruses and microRNAs..  38 Suppl:S25-S30. 2006
  • BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus..  38:521-524. 2006
  • Bone morphogenetic protein signaling by hemojuvelin regulates hepcidin expression..  38:531-539. 2006
  • High mutation rates have driven extensive structural polymorphism among human Y chromosomes..  38:463-467. 2006
  • Morphogenesis in skin is governed by discrete sets of differentially expressed microRNAs..  38:356-362. 2006
  • Ciliary proteins and exencephaly..  38:135-136. 2006
  • Erratum: Disruption of Bardet-Biedl syndrome ciliary proteins perturbs planar cell polarity in vertebrates (Nature Genetics (2005) 37 (1135-1140)).  37:1381. 2005
  • A mutation in Sec15l1 causes anemia in hemoglobin deficit (hbd) mice..  37:1270-1273. 2005
  • RNAi the natural way..  37:1163-1165. 2005
  • Disruption of Bardet-Biedl syndrome ciliary proteins perturbs planar cell polarity in vertebrates..  37:1135-1140. 2005
  • A stress-sensitive reporter predicts longevity in isogenic populations of Caenorhabditis elegans..  37:894-898. 2005
  • Karyotypic abnormalities create discordance of germline genotype and cancer cell phenotypes..  37:878-882. 2005
  • Calcium-sensitive potassium channelopathy in human epilepsy and paroxysmal movement disorder..  37:733-738. 2005
  • Erratum: A centrosomal mechanism involving CDK5RAP2 and CENPJ controls brain size (Nature Genetics (2005) 37 (353-355)).  37:555. 2005
  • A centrosomal mechanism involving CDK5RAP2 and CENPJ controls brain size..  37:353-355. 2005
  • A manually curated functional annotation of the human X chromosome..  37:331-332. 2005
  • Altered Twist1 and Hand2 dimerization is associated with Saethre-Chotzen syndrome and limb abnormalities..  37:373-381. 2005
  • A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2..  37:275-281. 2005
  • Mutations in the pleckstrin homology domain of dynamin 2 cause dominant intermediate Charcot-Marie-Tooth disease..  37:289-294. 2005
  • A single-nucleotide polymorphism tagging set for human drug metabolism and transport..  37:84-89. 2005
  • Dysregulation of the TSC-mTOR pathway in human disease..  37:19-24. 2005
  • Changing the paradigm from 'race' to human genome variation.  36:S5-S7. 2004
  • Loss of BBS proteins causes anosmia in humans and defects in olfactory cilia structure and function in the mouse..  36:994-998. 2004
  • Mutations in a member of the Ras superfamily of small GTP-binding proteins causes Bardet-Biedl syndrome..  36:989-993. 2004
  • An Hfe-dependent pathway mediates hyposideremia in response to lipopolysaccharide-induced inflammation in mice..  36:481-485. 2004
  • Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A..  36:449-451. 2004
  • The Bardet-Biedl protein BBS4 targets cargo to the pericentriolar region and is required for microtubule anchoring and cell cycle progression..  36:462-470. 2004
  • Polymorphism for a 1.6-Mb deletion of the human Y chromosome persists through balance between recurrent mutation and haploid selection..  35:247-251. 2003
  • Erratum: Gene expression phenotypic models that predict the activity of oncogenic pathways (Nature Genetics (2003) 34 (226-230)).  34:465. 2003
  • Genomic profiling to promote a healthy lifestyle: not ready for prime time..  34:347-350. 2003
  • Mutations in INVS encoding inversin cause nephronophthisis type 2, linking renal cystic disease to the function of primary cilia and left-right axis determination..  34:413-420. 2003
  • Gene expression phenotypic models that predict the activity of oncogenic pathways..  34:226-230. 2003
  • Constitutive hepcidin expression prevents iron overload in a mouse model of hemochromatosis..  34:97-101. 2003
  • Mutations in the chemokine receptor gene CXCR4 are associated with WHIM syndrome, a combined immunodeficiency disease..  34:70-74. 2003
  • Regulatory defects in liver and intestine implicate abnormal hepcidin and Cybrd1 expression in mouse hemochromatosis..  34:102-107. 2003
  • Organizing mRNA export..  33:111-112. 2003
  • Mutation of TBCE causes hypoparathyroidism-retardation-dysmorphism and autosomal recessive Kenny-Caffey syndrome..  32:448-452. 2002
  • The genome's best friend..  31:331-332. 2002
  • Oncogenic properties of PPM1D located within a breast cancer amplification epicenter at 17q23..  31:133-134. 2002
  • Segregation at three loci explains familial and population risk in Hirschsprung disease..  31:89-93. 2002
  • A mutant PTH/PTHrP type I receptor in enchondromatosis..  30:306-310. 2002
  • Ganglioside-induced differentiation-associated protein-1 is mutant in Charcot-Marie-Tooth disease type 4A/8q21..  30:21-22. 2002
  • Small changes in expression affect predisposition to tumorigenesis..  30:25-26. 2002
  • The AZFc region of the Y chromosome features massive palindromes and uniform recurrent deletions in infertile men..  29:279-286. 2001
  • An SSLP marker-anchored BAC framework map of the mouse genome..  29:133-134. 2001
  • The gene encoding alsin, a protein with three guanine-nucleotide exchange factor domains, is mutated in a form of recessive amyotrophic lateral sclerosis..  29:160-165. 2001
  • An evaluation of the draft human genome sequence..  29:88-91. 2001
  • PTPRC (CD45) is not associated with the development of multiple sclerosis in U.S. patients..  29:23-24. 2001
  • A conserved sorting-associated protein is mutant in chorea-acanthocytosis..  28:119-120. 2001
  • Hypoxia and Lou Gehrig..  28:107-108. 2001
  • Identification of the gene that, when mutated, causes the human obesity syndrome BBS4..  28:188-191. 2001
  • How does the mouse get its trunk?.  27:351-352. 2001
  • The immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome (IPEX) is caused by mutations of FOXP3..  27:20-21. 2001
  • Disruption of the uncoupling protein-2 gene in mice reveals a role in immunity and reactive oxygen species production..  26:435-439. 2000
  • A new face of the Rhesus antigen..  26:258-259. 2000
  • Mutation of MYH9, encoding non-muscle myosin heavy chain A, in May-Hegglin anomaly..  26:106-108. 2000
  • Mutations in MKKS cause obesity, retinal dystrophy and renal malformations associated with Bardet-Biedl syndrome..  26:67-70. 2000
  • Spermiogenesis and exchange of basic nuclear proteins are impaired in male germ cells lacking Camk4..  25:448-452. 2000
  • Mekk3 is essential for early embryonic cardiovascular development..  24:309-313. 2000
  • Mice mutant for Egfr and Shp2 have defective cardiac semilunar valvulogenesis..  24:296-299. 2000
  • LMNA, encoding lamin A/C, is mutated in partial lipodystrophy..  24:153-156. 2000
  • Mutations in SLC19A2 cause thiamine-responsive megaloblastic anaemia associated with diabetes mellitus and deafness..  22:300-304. 1999
  • An alpha-2-macroglobulin insertion-deletion polymorphism in Alzheimer disease..  22:19-22. 1999
  • The gene encoding proline dehydrogenase modulates sensorimotor gating in mice..  21:434-439. 1999
  • Transferrin receptor is necessary for development of erythrocytes and the nervous system..  21:396-399. 1999
  • Defective IL7R expression in T(-)B(+)NK(+) severe combined immunodeficiency..  20:394-397. 1998
  • Stable dicentric X chromosomes with two functional centromeres..  20:227-228. 1998
  • APOE genotype predicts when--not whether--one is predisposed to develop Alzheimer disease..  19:321-322. 1998
  • Stargazing nets new calcium channel subunit..  19:313-314. 1998
  • Expression of TERT in early premalignant lesions and a subset of cells in normal tissues..  19:182-186. 1998
  • A tenascin knockout with a phenotype..  17:5-7. 1997
  • Microcytic anaemia mice have a mutation in Nramp2, a candidate iron transporter gene..  16:383-386. 1997
  • The insulin gene is transcribed in the human thymus and transcription levels correlated with allelic variation at the INS VNTR-IDDM2 susceptibility locus for type 1 diabetes..  15:293-297. 1997
  • Uncoupling protein-2: a novel gene linked to obesity and hyperinsulinemia..  15:269-272. 1997
  • De novo truncating mutations in E6-AP ubiquitin-protein ligase gene (UBE3A) in Angelman syndrome..  15:74-77. 1997
  • On the TRAIL from p53 to apoptosis?.  17:130-131. 1997
  • The DAZ gene cluster on the human Y chromosome arose from an autosomal gene that was transposed, repeatedly amplified and pruned..  14:292-299. 1996
  • Hereditary pancreatitis is caused by a mutation in the cationic trypsinogen gene..  14:141-145. 1996
  • Mutation of MSH3 in endometrial cancer and evidence for its functional role in heteroduplex repair..  14:102-105. 1996
  • A complete genomic screen for multiple sclerosis underscores a role for the major histocompatability complex. The Multiple Sclerosis Genetics Group..  13:469-471. 1996
  • BRCA2 mutations in primary breast and ovarian cancers..  13:238-240. 1996
  • Mutations in the activin receptor-like kinase 1 gene in hereditary haemorrhagic telangiectasia type 2..  13:189-195. 1996
  • A homozygous mutation in the endothelin-3 gene associated with a combined Waardenburg type 2 and Hirschsprung phenotype (Shah-Waardenburg syndrome).  12:445-447. 1996
  • Endothelin-3 frameshift mutation in congenital central hypoventilation syndrome.  13:395-396. 1996
  • Germline mutations in glial cell line-derived neurotrophic factor (GDNF) and RET in a Hirschsprung disease patient..  14:341-344. 1996
  • Frequency of homozygous deletion at p16/CDKN2 in primary human tumours..  11:210-212. 1995
  • Diverse spermatogenic defects in humans caused by Y chromosome deletions encompassing a novel RNA-binding protein gene..  10:383-393. 1995
  • Adenosine-deaminase-deficient mice die perinatally and exhibit liver-cell degeneration, atelectasis and small intestinal cell death..  10:279-287. 1995
  • Somatic mutations in the BRCA1 gene in sporadic ovarian tumours..  9:439-443. 1995
  • Gene therapy in a xenograft model of cystic fibrosis lung corrects chloride transport more effectively than the sodium defect..  9:126-131. 1995
  • A genetic linkage map of the laboratory rat, Rattus norvegicus..  9:63-69. 1995
  • Endoglin, a TGF-beta binding protein of endothelial cells, is the gene for hereditary haemorrhagic telangiectasia type 1..  8:345-351. 1994
  • Redundant genes?.  8:219-220. 1994
  • The Haw River syndrome: dentatorubropallidoluysian atrophy (DRPLA) in an African-American family..  7:521-524. 1994
  • Inactivation of E2a in recombinant adenoviruses improves the prospect for gene therapy in cystic fibrosis..  7:362-369. 1994
  • Linkage of recessive familial amyotrophic lateral sclerosis to chromosome 2q33-q35..  7:425-428. 1994
  • Glycine receptor beta-subunit gene mutation in spastic mouse associated with LINE-1 element insertion..  7:136-141. 1994
  • Protective effect of apolipoprotein E type 2 allele for late onset Alzheimer disease..  7:180-184. 1994
  • Mutations of the E-cadherin gene in human gynecologic cancers..  7:98-102. 1994
  • A disease locus for hereditary haemorrhagic telangiectasia maps to chromosome 9q33-34..  6:197-204. 1994
  • Deletion of Y chromosome sequences located outside the testis determining region can cause XY female sex reversal..  5:301-307. 1993
  • Experimental models of human carcinogenesis..  5:207-208. 1993
  • A gene for Hirschsprung disease (megacolon) in the pericentromeric region of human chromosome 10..  4:351-356. 1993
  • Direct gene transfer of human CFTR into human bronchial epithelia of xenografts with E1-deleted adenoviruses..  4:27-34. 1993
  • Genomic mismatch scanning: a new approach to genetic linkage mapping..  4:11-18. 1993
  • Somatic deletion of the neurofibromatosis type 1 gene in a neurofibrosarcoma supports a tumour suppressor gene hypothesis..  3:122-126. 1993
  • A recombination-based assay demonstrates that the fragile X sequence is transcribed widely during development..  3:44-48. 1993
  • Genetic evidence for a novel familial Alzheimer's disease locus on chromosome 14..  2:330-334. 1992
  • Linkage of Tunisian autosomal recessive Duchenne-like muscular dystrophy to the pericentromeric region of chromosome 13q..  2:315-317. 1992
  • Submucosal glands are the predominant site of CFTR expression in the human bronchus..  2:240-248. 1992
  • Human cystic fibrosis transmembrane conductance regulator directed to respiratory epithelial cells of transgenic mice..  2:13-20. 1992
  • Schizophrenia scepticism..  2:12. 1992
  • The peripheral myelin protein gene PMP-22 is contained within the Charcot-Marie-Tooth disease type 1A duplication..  1:171-175. 1992
  • A common variant mapping to CACNA1A is associated with susceptibility to exfoliation syndrome (vol 47, pg 387, 2015).  47:689-689. 2015
  • Corrigendum: a common variant mapping to CACNA1A is associated with susceptibility to exfoliation syndrome..  47:689. 2015