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Publication Venue For
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Retrotransposon activation during Drosophila metamorphosis conditions adult antiviral responses..
54:1933-1945.
2022
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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
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Systematic characterization of gene function in the photosynthetic alga Chlamydomonas reinhardtii..
54:705-714.
2022
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Genomic and phenotypic insights from an atlas of genetic effects on DNA methylation..
53:1311-1321.
2021
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Genome-scale screens identify factors regulating tumor cell responses to natural killer cells..
53:1196-1206.
2021
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Investigating the genetic architecture of noncognitive skills using GWAS-by-subtraction..
53:35-44.
2021
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Lymph node metastases develop through a wider evolutionary bottleneck than distant metastases..
52:692-700.
2020
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Genetic dissection of interspecific differences in yeast thermotolerance..
50:1501-1504.
2018
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Computational correction of copy number effect improves specificity of CRISPR-Cas9 essentiality screens in cancer cells..
49:1779-1784.
2017
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A functional genomics predictive network model identifies regulators of inflammatory bowel disease..
49:1437-1449.
2017
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Hacking DNA copy number for circuit engineering..
49:1164-1165.
2017
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Epigenomic reprogramming during pancreatic cancer progression links anabolic glucose metabolism to distant metastasis..
49:367-376.
2017
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Erratum: Common variants at 19p13 are associated with susceptibility to ovarian cancer (Nature Genetics (2010) 42 (880-884)).
48:101.
2015
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Exome sequencing identifies somatic gain-of-function PPM1D mutations in brainstem gliomas.
46:726-730.
2014
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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
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The integrated landscape of driver genomic alterations in glioblastoma.
45:1141-1149.
2013
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Thirty new loci for age at menarche identified by a meta-analysis of genome-wide association studies.
42:1077-1085.
2010
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Nucleosome dynamics define transcriptional enhancers.
42:343-347.
2010
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Reply to "Rapidly evolving human promoter regions".
40:1263-1264.
2008
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Interleukin 7 receptor alpha chain (IL7R) shows allelic and functional association with multiple sclerosis..
39:1083-1091.
2007
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Mutations in UPF3B, a member of the nonsense-mediated mRNA decay complex, cause syndromic and nonsyndromic mental retardation..
39:1127-1133.
2007
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Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy..
39:1007-1012.
2007
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Genetic variation in Mon1a affects protein trafficking and modifies macrophage iron loading in mice..
39:1025-1032.
2007
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Multiple regions within 8q24 independently affect risk for prostate cancer..
39:638-644.
2007
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Distinct and predictive chromatin signatures of transcriptional promoters and enhancers in the human genome..
39:311-318.
2007
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Mapping autism risk loci using genetic linkage and chromosomal rearrangements..
39:319-328.
2007
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Convergent adaptation of human lactase persistence in Africa and Europe..
39:31-40.
2007
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Positional cloning uncovers mutations in PLCE1 responsible for a nephrotic syndrome variant that may be reversible..
38:1397-1405.
2006
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Genome-wide analysis of estrogen receptor binding sites.
38:1289-1297.
2006
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R-spondin1 tips the balance in sex determination..
38:1233-1234.
2006
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A WNK in the kidney controls blood pressure..
38:1105-1106.
2006
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A high-resolution HLA and SNP haplotype map for disease association studies in the extended human MHC..
38:1166-1172.
2006
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Has the chimpanzee Y chromosome been sequenced?.
38:853-854.
2006
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A common variant associated with prostate cancer in European and African populations..
38:652-658.
2006
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Viruses and microRNAs..
38 Suppl:S25-S30.
2006
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Bone morphogenetic protein signaling by hemojuvelin regulates hepcidin expression..
38:531-539.
2006
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High mutation rates have driven extensive structural polymorphism among human Y chromosomes..
38:463-467.
2006
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Morphogenesis in skin is governed by discrete sets of differentially expressed microRNAs..
38:356-362.
2006
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A mutation in Sec15l1 causes anemia in hemoglobin deficit (hbd) mice..
37:1270-1273.
2005
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RNAi the natural way..
37:1163-1165.
2005
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A stress-sensitive reporter predicts longevity in isogenic populations of Caenorhabditis elegans..
37:894-898.
2005
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Karyotypic abnormalities create discordance of germline genotype and cancer cell phenotypes..
37:878-882.
2005
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Calcium-sensitive potassium channelopathy in human epilepsy and paroxysmal movement disorder..
37:733-738.
2005
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Altered Twist1 and Hand2 dimerization is associated with Saethre-Chotzen syndrome and limb abnormalities..
37:373-381.
2005
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Mutations in the pleckstrin homology domain of dynamin 2 cause dominant intermediate Charcot-Marie-Tooth disease..
37:289-294.
2005
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Changing the paradigm from 'race' to human genome variation..
36:S5-S7.
2004
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Conceptualizing human variation..
36:S17-S20.
2004
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An Hfe-dependent pathway mediates hyposideremia in response to lipopolysaccharide-induced inflammation in mice..
36:481-485.
2004
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Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A..
36:449-451.
2004
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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
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Erratum: Gene expression phenotypic models that predict the activity of oncogenic pathways (Nature Genetics (2003) 34 (226-230)).
34:465.
2003
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Genomic profiling to promote a healthy lifestyle: not ready for prime time..
34:347-350.
2003
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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
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Gene expression phenotypic models that predict the activity of oncogenic pathways..
34:226-230.
2003
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Constitutive hepcidin expression prevents iron overload in a mouse model of hemochromatosis..
34:97-101.
2003
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Mutations in the chemokine receptor gene CXCR4 are associated with WHIM syndrome, a combined immunodeficiency disease..
34:70-74.
2003
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Regulatory defects in liver and intestine implicate abnormal hepcidin and Cybrd1 expression in mouse hemochromatosis..
34:102-107.
2003
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Organizing mRNA export..
33:111-112.
2003
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Mutation of TBCE causes hypoparathyroidism-retardation-dysmorphism and autosomal recessive Kenny-Caffey syndrome..
32:448-452.
2002
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The genome's best friend..
31:331-332.
2002
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Oncogenic properties of PPM1D located within a breast cancer amplification epicenter at 17q23..
31:133-134.
2002
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Segregation at three loci explains familial and population risk in Hirschsprung disease..
31:89-93.
2002
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A mutant PTH/PTHrP type I receptor in enchondromatosis..
30:306-310.
2002
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Another cystic mystery solved..
30:247-248.
2002
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Ganglioside-induced differentiation-associated protein-1 is mutant in Charcot-Marie-Tooth disease type 4A/8q21..
30:21-22.
2002
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Small changes in expression affect predisposition to tumorigenesis..
30:25-26.
2002
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The AZFc region of the Y chromosome features massive palindromes and uniform recurrent deletions in infertile men..
29:279-286.
2001
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An SSLP marker-anchored BAC framework map of the mouse genome..
29:133-134.
2001
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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
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PTPRC (CD45) is not associated with the development of multiple sclerosis in U.S. patients..
29:23-24.
2001
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A conserved sorting-associated protein is mutant in chorea-acanthocytosis..
28:119-120.
2001
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Identification of the gene that, when mutated, causes the human obesity syndrome BBS4..
28:188-191.
2001
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How does the mouse get its trunk?.
27:351-352.
2001
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Disruption of the uncoupling protein-2 gene in mice reveals a role in immunity and reactive oxygen species production..
26:435-439.
2000
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A new face of the Rhesus antigen..
26:258-259.
2000
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Mutation of MYH9, encoding non-muscle myosin heavy chain A, in May-Hegglin anomaly..
26:106-108.
2000
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Spermiogenesis and exchange of basic nuclear proteins are impaired in male germ cells lacking Camk4..
25:448-452.
2000
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Mekk3 is essential for early embryonic cardiovascular development..
24:309-313.
2000
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Mice mutant for Egfr and Shp2 have defective cardiac semilunar valvulogenesis..
24:296-299.
2000
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LMNA, encoding lamin A/C, is mutated in partial lipodystrophy..
24:153-156.
2000
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Mutations in SLC19A2 cause thiamine-responsive megaloblastic anaemia associated with diabetes mellitus and deafness..
22:300-304.
1999
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An alpha-2-macroglobulin insertion-deletion polymorphism in Alzheimer disease..
22:19-22.
1999
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The gene encoding proline dehydrogenase modulates sensorimotor gating in mice..
21:434-439.
1999
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Transferrin receptor is necessary for development of erythrocytes and the nervous system..
21:396-399.
1999
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Defective IL7R expression in T(-)B(+)NK(+) severe combined immunodeficiency..
20:394-397.
1998
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Stable dicentric X chromosomes with two functional centromeres..
20:227-228.
1998
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APOE genotype predicts when--not whether--one is predisposed to develop Alzheimer disease..
19:321-322.
1998
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Stargazing nets new calcium channel subunit..
19:313-314.
1998
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Expression of TERT in early premalignant lesions and a subset of cells in normal tissues..
19:182-186.
1998
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On the TRAIL from p53 to apoptosis?.
17:130-131.
1997
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A tenascin knockout with a phenotype..
17:5-7.
1997
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Microcytic anaemia mice have a mutation in Nramp2, a candidate iron transporter gene..
16:383-386.
1997
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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
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Uncoupling protein-2: a novel gene linked to obesity and hyperinsulinemia..
15:269-272.
1997
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Germline mutations in glial cell line-derived neurotrophic factor (GDNF) and RET in a Hirschsprung disease patient..
14:341-344.
1996
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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
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Hereditary pancreatitis is caused by a mutation in the cationic trypsinogen gene..
14:141-145.
1996
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Mutation of MSH3 in endometrial cancer and evidence for its functional role in heteroduplex repair..
14:102-105.
1996
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A complete genomic screen for multiple sclerosis underscores a role for the major histocompatability complex. The Multiple Sclerosis Genetics Group..
13:469-471.
1996
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Endothelin-3 frameshift mutation in congenital central hypoventilation syndrome..
13:395-396.
1996
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BRCA2 mutations in primary breast and ovarian cancers..
13:238-240.
1996
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Mutations in the activin receptor-like kinase 1 gene in hereditary haemorrhagic telangiectasia type 2..
13:189-195.
1996
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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
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Frequency of homozygous deletion at p16/CDKN2 in primary human tumours..
11:210-212.
1995
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Diverse spermatogenic defects in humans caused by Y chromosome deletions encompassing a novel RNA-binding protein gene..
10:383-393.
1995
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Adenosine-deaminase-deficient mice die perinatally and exhibit liver-cell degeneration, atelectasis and small intestinal cell death..
10:279-287.
1995
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Somatic mutations in the BRCA1 gene in sporadic ovarian tumours..
9:439-443.
1995
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Detection of mutations by cleavage of DNA heteroduplexes with bacteriophage resolvases..
9:177-183.
1995
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A genetic linkage map of the laboratory rat, Rattus norvegicus..
9:63-69.
1995
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Endoglin, a TGF-beta binding protein of endothelial cells, is the gene for hereditary haemorrhagic telangiectasia type 1..
8:345-351.
1994
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The Haw River syndrome: dentatorubropallidoluysian atrophy (DRPLA) in an African-American family..
7:521-524.
1994
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Linkage of recessive familial amyotrophic lateral sclerosis to chromosome 2q33-q35..
7:425-428.
1994
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Protective effect of apolipoprotein E type 2 allele for late onset Alzheimer disease..
7:180-184.
1994
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Mutations of the E-cadherin gene in human gynecologic cancers..
7:98-102.
1994
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A disease locus for hereditary haemorrhagic telangiectasia maps to chromosome 9q33-34..
6:197-204.
1994
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Deletion of Y chromosome sequences located outside the testis determining region can cause XY female sex reversal..
5:301-307.
1993
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Experimental models of human carcinogenesis..
5:207-208.
1993
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A gene for Hirschsprung disease (megacolon) in the pericentromeric region of human chromosome 10..
4:351-356.
1993
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Genomic mismatch scanning: a new approach to genetic linkage mapping..
4:11-18.
1993
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Somatic deletion of the neurofibromatosis type 1 gene in a neurofibrosarcoma supports a tumour suppressor gene hypothesis..
3:122-126.
1993
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A recombination-based assay demonstrates that the fragile X sequence is transcribed widely during development..
3:44-48.
1993
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Genetic evidence for a novel familial Alzheimer's disease locus on chromosome 14..
2:330-334.
1992
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Linkage of Tunisian autosomal recessive Duchenne-like muscular dystrophy to the pericentromeric region of chromosome 13q..
2:315-317.
1992
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Submucosal glands are the predominant site of CFTR expression in the human bronchus..
2:240-248.
1992
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Human cystic fibrosis transmembrane conductance regulator directed to respiratory epithelial cells of transgenic mice..
2:13-20.
1992
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The peripheral myelin protein gene PMP-22 is contained within the Charcot-Marie-Tooth disease type 1A duplication..
1:171-175.
1992