Nature genetics

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Familial colorectal cancer in Ashkenazim due to a hypermutable tract in APC. 1997
Genome-wide association analyses define pathogenic signaling pathways and prioritize drug targets for IgA nephropathy. 2023
Clonal evolution during metastatic spread in high-risk neuroblastoma.. 55. 2023
Genomic and transcriptomic analysis of checkpoint blockade response in advanced non-small cell lung cancer.. 55. 2023
Gain-of-function mutations in KCNK3 cause a developmental disorder with sleep apnea.. 54. 2022
Single-cell multi-omics of human clonal hematopoiesis reveals that DNMT3A R882 mutations perturb early progenitor states through selective hypomethylation.. 54. 2022
Genetic regulation of OAS1 nonsense-mediated decay underlies association with COVID-19 hospitalization in patients of European and African ancestries.. 54. 2022
Functional landscapes of POLE and POLD1 mutations in checkpoint blockade-dependent antitumor immunity.. 54. 2022
The context-specific role of germline pathogenicity in tumorigenesis.. 53. 2021
Epigenetic encoding, heritability and plasticity of glioma transcriptional cell states.. 53. 2021
Fine-mapping, trans-ancestral and genomic analyses identify causal variants, cells, genes and drug targets for type 1 diabetes.. 53. 2021
Rapid genotype imputation from sequence with reference panels.. 53. 2021
Two competing mechanisms of DNMT3A recruitment regulate the dynamics of de novo DNA methylation at PRC1-targeted CpG islands.. 53. 2021
The association between tumor mutational burden and prognosis is dependent on treatment context.. 53. 2021
Cancer therapy shapes the fitness landscape of clonal hematopoiesis.. 52. 2020
Single-cell transcriptomics identifies a distinct luminal progenitor cell type in distal prostate invagination tips.. 52. 2020
RNA is essential for PRC2 chromatin occupancy and function in human pluripotent stem cells.. 52. 2020
Unraveling tumor-immune heterogeneity in advanced ovarian cancer uncovers immunogenic effect of chemotherapy.. 52. 2020
Genetic identification of cell types underlying brain complex traits yields insights into the etiology of Parkinson's disease.. 52. 2020
DNA methylation disruption reshapes the hematopoietic differentiation landscape.. 52. 2020
Three-dimensional chromatin landscapes in T cell acute lymphoblastic leukemia.. 52. 2020
Author Correction: Postzygotic inactivating mutations of RHOA cause a mosaic neuroectodermal syndrome.. 52. 2020
Comprehensive analysis of chromothripsis in 2,658 human cancers using whole-genome sequencing.. 52. 2020
Disruption of chromatin folding domains by somatic genomic rearrangements in human cancer.. 52. 2020
Pan-cancer analysis of whole genomes identifies driver rearrangements promoted by LINE-1 retrotransposition.. 52. 2020
Genetic studies of urinary metabolites illuminate mechanisms of detoxification and excretion in humans.. 52. 2020
ARID1A determines luminal identity and therapeutic response in estrogen-receptor-positive breast cancer.. 52. 2020
Fine-mapping of 150 breast cancer risk regions identifies 191 likely target genes.. 52. 2020
Postzygotic inactivating mutations of RHOA cause a mosaic neuroectodermal syndrome.. 51. 2019
Mutations in RABL3 alter KRAS prenylation and are associated with hereditary pancreatic cancer.. 51. 2019
Mapping cis-regulatory chromatin contacts in neural cells links neuropsychiatric disorder risk variants to target genes.. 51. 2019
Rational targeting of a NuRD subcomplex guided by comprehensive in situ mutagenesis.. 51. 2019
Genome-scale screens identify JNK-JUN signaling as a barrier for pluripotency exit and endoderm differentiation.. 51. 2019
Author Correction: Repurposing large health insurance claims data to estimate genetic and environmental contributions in 560 phenotypes.. 51. 2019
Integrated analysis of population genomics, transcriptomics and virulence provides novel insights into Streptococcus pyogenes pathogenesis.. 51. 2019
Repurposing large health insurance claims data to estimate genetic and environmental contributions in 560 phenotypes.. 51. 2019
Tumor mutational load predicts survival after immunotherapy across multiple cancer types.. 51. 2019
Genome doubling shapes the evolution and prognosis of advanced cancers.. 50. 2018
A precision oncology approach to the pharmacological targeting of mechanistic dependencies in neuroendocrine tumors.. 50. 2018
A transcriptome-wide association study of 229,000 women identifies new candidate susceptibility genes for breast cancer.. 50. 2018
Author Correction: TET proteins safeguard bivalent promoters from de novo methylation in human embryonic stem cells.. 50. 2018
Publisher Correction: TET proteins safeguard bivalent promoters from de novo methylation in human embryonic stem cells.. 50. 2018
The long tail of oncogenic drivers in prostate cancer.. 50. 2018
TET proteins safeguard bivalent promoters from de novo methylation in human embryonic stem cells.. 50. 2017
Mutant-IDH1-dependent chromatin state reprogramming, reversibility, and persistence.. 50. 2017
Identification of ten variants associated with risk of estrogen-receptor-negative breast cancer.. 49. 2017
Erratum: PGBD5 promotes site-specific oncogenic mutations in human tumors.. 49. 2017
PGBD5 promotes site-specific oncogenic mutations in human tumors.. 49. 2017
Polygenic transmission disequilibrium confirms that common and rare variation act additively to create risk for autism spectrum disorders.. 49. 2017
Recurrent noncoding regulatory mutations in pancreatic ductal adenocarcinoma.. 49. 2017
Functional screen of MSI2 interactors identifies an essential role for SYNCRIP in myeloid leukemia stem cells.. 49. 2017
Identification of 12 new susceptibility loci for different histotypes of epithelial ovarian cancer.. 49. 2017
The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies.. 49. 2016
Clonal evolution of chemotherapy-resistant urothelial carcinoma.. 48. 2016
Corrigendum: Stromal contribution to the colorectal cancer transcriptome.. 48. 2016
Recurrent activating mutations of G-protein-coupled receptor CYSLTR2 in uveal melanoma.. 48. 2016
Frequent somatic CDH1 loss-of-function mutations in plasmacytoid variant bladder cancer.. 48. 2016
An oncogenic MYB feedback loop drives alternate cell fates in adenoid cystic carcinoma.. 48. 2016
A large genome-wide association study of age-related macular degeneration highlights contributions of rare and common variants.. 48. 2015
The androgen receptor cistrome is extensively reprogrammed in human prostate tumorigenesis.. 47. 2015
Exome sequencing of desmoplastic melanoma identifies recurrent NFKBIE promoter mutations and diverse activating mutations in the MAPK pathway.. 47. 2015
In situ single-cell analysis identifies heterogeneity for PIK3CA mutation and HER2 amplification in HER2-positive breast cancer.. 47. 2015
Absence of canonical marks of active chromatin in developmentally regulated genes.. 47. 2015
Paired exome analysis of Barrett's esophagus and adenocarcinoma.. 47. 2015
Mutations in SLC25A46, encoding a UGO1-like protein, cause an optic atrophy spectrum disorder.. 47. 2015
Common variation at 2p13.3, 3q29, 7p13 and 17q25.1 associated with susceptibility to pancreatic cancer.. 47. 2015
An allelic series of miR-17 ∼ 92-mutant mice uncovers functional specialization and cooperation among members of a microRNA polycistron.. 47. 2015
Cooperative loss of RAS feedback regulation drives myeloid leukemogenesis.. 47. 2015
Stromal contribution to the colorectal cancer transcriptome.. 47. 2015
Germline ETV6 mutations in familial thrombocytopenia and hematologic malignancy.. 47. 2015
Hotspot activating PRKD1 somatic mutations in polymorphous low-grade adenocarcinomas of the salivary glands.. 46. 2014
PRC2 is recurrently inactivated through EED or SUZ12 loss in malignant peripheral nerve sheath tumors.. 46. 2014
A specific missense mutation in GTF2I occurs at high frequency in thymic epithelial tumors.. 46. 2014
Genome-wide association analysis identifies six new loci associated with forced vital capacity.. 46. 2014
An atlas of genetic influences on human blood metabolites.. 46. 2014
A recurrent neomorphic mutation in MYOD1 defines a clinically aggressive subset of embryonal rhabdomyosarcoma associated with PI3K-AKT pathway mutations.. 46. 2014
Pan-cancer genetic analysis identifies PARK2 as a master regulator of G1/S cyclins.. 46. 2014
De novo CCND2 mutations leading to stabilization of cyclin D2 cause megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome.. 46. 2014
Genomic analysis of diffuse intrinsic pontine gliomas identifies three molecular subgroups and recurrent activating ACVR1 mutations.. 46. 2014
Recurrent SMARCA4 mutations in small cell carcinoma of the ovary.. 46. 2014
An epigenetic mechanism of resistance to targeted therapy in T cell acute lymphoblastic leukemia.. 46. 2014
Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database.. 46. 2013
ESR1 ligand-binding domain mutations in hormone-resistant breast cancer.. 45. 2013
Exome sequencing identifies frequent inactivating mutations in BAP1, ARID1A and PBRM1 in intrahepatic cholangiocarcinomas.. 45. 2013
Frequent truncating mutations of STAG2 in bladder cancer.. 45. 2013
Common variants associated with plasma triglycerides and risk for coronary artery disease.. 45. 2013
Discovery and refinement of loci associated with lipid levels.. 45. 2013
A recurrent germline PAX5 mutation confers susceptibility to pre-B cell acute lymphoblastic leukemia.. 45. 2013
Genetic relationship between five psychiatric disorders estimated from genome-wide SNPs.. 45. 2013
The integrated landscape of driver genomic alterations in glioblastoma.. 45. 2013
Recurrent somatic alterations of FGFR1 and NTRK2 in pilocytic astrocytoma.. 45. 2013
A co-clinical approach identifies mechanisms and potential therapies for androgen deprivation resistance in prostate cancer.. 45. 2013
Zbtb7a suppresses prostate cancer through repression of a Sox9-dependent pathway for cellular senescence bypass and tumor invasion.. 45. 2013
The mutational landscape of adenoid cystic carcinoma.. 45. 2013
The draft genomes of soft-shell turtle and green sea turtle yield insights into the development and evolution of the turtle-specific body plan.. 45. 2013
GWAS meta-analysis and replication identifies three new susceptibility loci for ovarian cancer.. 45. 2013
Multiple independent variants at the TERT locus are associated with telomere length and risks of breast and ovarian cancer.. 45. 2013
Seven new loci associated with age-related macular degeneration.. 45. 2013
Relapse-specific mutations in NT5C2 in childhood acute lymphoblastic leukemia.. 45. 2013
Recurrent somatic mutation of FAT1 in multiple human cancers leads to aberrant Wnt activation.. 45. 2013
Identification of recurrent NAB2-STAT6 gene fusions in solitary fibrous tumor by integrative sequencing.. 45. 2013
Whole-exome sequencing identifies a recurrent NAB2-STAT6 fusion in solitary fibrous tumors.. 45. 2013
The genetic landscape of mutations in Burkitt lymphoma.. 44. 2012
Recurrent somatic TET2 mutations in normal elderly individuals with clonal hematopoiesis.. 44. 2012
Comprehensive genomic analysis identifies SOX2 as a frequently amplified gene in small-cell lung cancer.. 44. 2012
Activation of the AXL kinase causes resistance to EGFR-targeted therapy in lung cancer.. 44. 2012
Exome sequencing identifies recurrent SPOP, FOXA1 and MED12 mutations in prostate cancer.. 44. 2012
Detectable clonal mosaicism and its relationship to aging and cancer.. 44. 2012
Ascorbic acid prevents loss of Dlk1-Dio3 imprinting and facilitates generation of all-iPS cell mice from terminally differentiated B cells.. 44. 2012
De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome.. 44. 2012
Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome.. 44. 2012
Genome-wide copy number variation study associates metabotropic glutamate receptor gene networks with attention deficit hyperactivity disorder.. 44. 2011
Genome-wide association and large-scale follow up identifies 16 new loci influencing lung function.. 43. 2011
Large-scale genome-wide association analysis of bipolar disorder identifies a new susceptibility locus near ODZ4.. 43. 2011
Genomic sequencing of colorectal adenocarcinomas identifies a recurrent VTI1A-TCF7L2 fusion.. 43. 2011
Germline mutations in BAP1 predispose to melanocytic tumors.. 43. 2011
Analysis of the coding genome of diffuse large B-cell lymphoma.. 43. 2011
A cooperative microRNA-tumor suppressor gene network in acute T-cell lymphoblastic leukemia (T-ALL).. 43. 2011
The nuclear deubiquitinase BAP1 is commonly inactivated by somatic mutations and 3p21.1 losses in malignant pleural mesothelioma.. 43. 2011
A genome-wide association study of metabolic traits in human urine.. 43. 2011
Mutations of the SLX4 gene in Fanconi anemia.. 43. 2011
A genome-wide association study identifies new psoriasis susceptibility loci and an interaction between HLA-C and ERAP1.. 42. 2010
A locus on 19p13 modifies risk of breast cancer in BRCA1 mutation carriers and is associated with hormone receptor-negative breast cancer in the general population.. 42. 2010
Common variants at 19p13 are associated with susceptibility to ovarian cancer.. 42. 2010
A genome-wide study identifies HLA alleles associated with lumiracoxib-related liver injury.. 42. 2010
Subtype-specific genomic alterations define new targets for soft-tissue sarcoma therapy.. 42. 2010
Subtle variations in Pten dose determine cancer susceptibility.. 42. 2010
Identification of DOK genes as lung tumor suppressors.. 42. 2010
Mutations in PNKP cause microcephaly, seizures and defects in DNA repair.. 42. 2010
A genome-wide association study identifies pancreatic cancer susceptibility loci on chromosomes 13q22.1, 1q32.1 and 5p15.33.. 42. 2010
A genome-wide perspective of genetic variation in human metabolism.. 42. 2009
Somatic mutations of the Parkinson's disease-associated gene PARK2 in glioblastoma and other human malignancies.. 42. 2009
Common variants at five new loci associated with early-onset inflammatory bowel disease.. 41. 2009
Multiple loci on 8q24 associated with prostate cancer susceptibility.. 41. 2009
Differentiation stage determines potential of hematopoietic cells for reprogramming into induced pluripotent stem cells.. 41. 2009
REL, encoding a member of the NF-kappaB family of transcription factors, is a newly defined risk locus for rheumatoid arthritis.. 41. 2009
Aberrant ERG expression cooperates with loss of PTEN to promote cancer progression in the prostate.. 41. 2009
A germline JAK2 SNP is associated with predisposition to the development of JAK2(V617F)-positive myeloproliferative neoplasms.. 41. 2009
JAK2 haplotype is a major risk factor for the development of myeloproliferative neoplasms.. 41. 2009
Susceptibility loci for intracranial aneurysm in European and Japanese populations.. 40. 2008
Structure and function of a transcriptional network activated by the MAPK Hog1.. 40. 2008
Network modeling links breast cancer susceptibility and centrosome dysfunction.. 39. 2007
Mapping autism risk loci using genetic linkage and chromosomal rearrangements.. 39. 2007
High-throughput oncogene mutation profiling in human cancer.. 39. 2007
Biallelic mutations in PALB2 cause Fanconi anemia subtype FA-N and predispose to childhood cancer.. 39. 2006
Nras loss induces metastatic conversion of Rb1-deficient neuroendocrine thyroid tumor.. 38. 2005
Second-generation shRNA libraries covering the mouse and human genomes.. 37. 2005
The BRCA1-interacting helicase BRIP1 is deficient in Fanconi anemia.. 37. 2005
Nova regulates brain-specific splicing to shape the synapse.. 37. 2005
Roberts syndrome is caused by mutations in ESCO2, a human homolog of yeast ECO1 that is essential for the establishment of sister chromatid cohesion.. 37. 2005
Rapid analysis of the DNA-binding specificities of transcription factors with DNA microarrays.. 36. 2004
Mutations in the desmosomal protein plakophilin-2 are common in arrhythmogenic right ventricular cardiomyopathy.. 36. 2004
Fusion of NUP214 to ABL1 on amplified episomes in T-cell acute lymphoblastic leukemia.. 36. 2004
The knockout mouse project.. 36. 2004
Caenorhabditis elegans ABL-1 antagonizes p53-mediated germline apoptosis after ionizing irradiation.. 36. 2004
The MLH1 D132H variant is associated with susceptibility to sporadic colorectal cancer.. 36. 2004
A putative RUNX1 binding site variant between SLC9A3R1 and NAT9 is associated with susceptibility to psoriasis.. 35. 2003
Genomic empowerment: the importance of public databases.. 35 Suppl 1. 2003
PGC-1alpha-responsive genes involved in oxidative phosphorylation are coordinately downregulated in human diabetes.. 34. 2003
Mutations in NR4A2 associated with familial Parkinson disease.. 33. 2002
Survival signaling mediated by c-Jun NH(2)-terminal kinase in transformed B lymphoblasts.. 32. 2002
Meiotic arrest and aneuploidy in MLH3-deficient mice.. 31. 2002
Rescue of a deficiency in ATP synthesis by transfer of MTATP6, a mitochondrial DNA-encoded gene, to the nucleus.. 30. 2002
Tas1r3, encoding a new candidate taste receptor, is allelic to the sweet responsiveness locus Sac.. 28. 2001
Bone morphogenetic protein-3 is a negative regulator of bone density.. 27. 2001
MLH3: a DNA mismatch repair gene associated with mammalian microsatellite instability.. 24. 2000
Increased stress response and beta-phenylethylamine in MAOB-deficient mice.. 17. 1997
Griscelli disease maps to chromosome 15q21 and is associated with mutations in the myosin-Va gene.. 16. 1997
Defects in the rhodopsin kinase gene in the Oguchi form of stationary night blindness.. 15. 1997
Identification of an essential nonneuronal function of neurotrophin 3 in mammalian cardiac development.. 14. 1996
The carrier frequency of the BRCA2 6174delT mutation among Ashkenazi Jewish individuals is approximately 1%.. 14. 1996
Low incidence of BRCA2 mutations in breast carcinoma and other cancers.. 13. 1996
Recurrent BRCA2 6174delT mutations in Ashkenazi Jewish women affected by breast cancer.. 13. 1996
Ectopic expression of thyrotropin releasing hormone (TRH) receptors in liver modulates organ function to regulate blood glucose by TRH.. 12. 1996
The complete BRCA2 gene and mutations in chromosome 13q-linked kindreds.. 12. 1996
Epileptic seizures caused by inactivation of a novel gene, jerky, related to centromere binding protein-B in transgenic mice.. 11. 1995
Long-term gene expression and phenotypic correction using adeno-associated virus vectors in the mammalian brain.. 8. 1994
Administration of an adenovirus containing the human CFTR cDNA to the respiratory tract of individuals with cystic fibrosis.. 8. 1994
Mutations of the VHL tumour suppressor gene in renal carcinoma.. 7. 1994
A mutation in CFTR produces different phenotypes depending on chromosomal background.. 5. 1993
Preferential amplification of the paternal allele of the N-myc gene in human neuroblastomas.. 4. 1993
Direct in vivo gene transfer to ependymal cells in the central nervous system using recombinant adenovirus vectors.. 3. 1993
Genetic basis of variable exon 9 skipping in cystic fibrosis transmembrane conductance regulator mRNA.. 3. 1993
Adenovirus-mediated in vivo gene transfer and expression in normal rat liver.. 1. 1992
Absence of linkage between the angiotensin converting enzyme locus and human essential hypertension.. 1. 1992
Author Correction: PGBD5 promotes site-specific oncogenic mutations in human tumors.. 52. 2020
Author Correction: A co-clinical approach identifies mechanisms and potential therapies for androgen deprivation resistance in prostate cancer.. 52. 2020
Author Correction: Postzygotic inactivating mutations of RHOA cause a mosaic neuroectodermal syndrome.. 51. 2019
Publisher Correction: The long tail of oncogenic drivers in prostate cancer.. 51. 2019
Corrigendum: Common variants at 19p13 are associated with susceptibility to ovarian cancer.. 48. 2016
Inherited susceptibility to pediatric acute lymphoblastic leukemia.. 41. 2009
Mining the epigenetic landscape in ALL. 2013
A clear picture of renal cell carcinoma. 2013
Traversing the genomic landscape of prostate cancer from diagnosis to death. 2012
Cooperativity of TMPRSS2-ERG with PI3-kinase pathway activation in prostate oncogenesis. 2009
Genetics of cardiac repolarization. 2009
mtDNA clock runs out for dopaminergic neurons. 2006
Cross-species comparisons of cancer signaling. 2005
Why commonplace encounters turn to fatal attraction. 1998
Reply to 'H-STS, L-STS and KRJ-I are not authentic GEPNET cell lines'. 2019
Subcellular localization of MC4R with ADCY3 at neuronal primary cilia underlies a common pathway for genetic predisposition to obesity. 2018
Crowdsourcing genetic prediction of clinical utility in the Rheumatoid Arthritis Responder Challenge. 2013
Genome-wide association study identifies variants in the ABO locus associated with susceptibility to pancreatic cancer. 2009
The APCI1307K allele and breast cancer risk. 1998
Mutations associated with familial melanoma impair p16INK4 function. 1995
The question of heterogeneity in Marfan syndrome. 1995
Recommendations of the 2006 Human Variome Project meeting. 2007
Multi-ancestry genome-wide association analyses improve resolution of genes and pathways influencing lung function and chronic obstructive pulmonary disease risk. 2023
Multi-ancestry genome-wide association analyses identify novel genetic mechanisms in rheumatoid arthritis. 2022
Genome-wide association study identifies 32 novel breast cancer susceptibility loci from overall and subtype-specific analyses. 2020
A harmonized meta-knowledgebase of clinical interpretations of somatic genomic variants in cancer. 2020
Genome-wide association study identifies 30 loci associated with bipolar disorder. 2019
Discovery of common and rare genetic risk variants for colorectal cancer. 2018
Multiancestry association study identifies new asthma risk loci that colocalize with immune-cell enhancer marks. 2017
Punctuated bursts in human male demography inferred from 1,244 worldwide Y-chromosome sequences. 2016
Breast cancer risk variants at 6q25 display different phenotype associations and regulate ESR1, RMND1 and CCDC170. 2016
Genome-wide association analysis identifies TXNRD2, ATXN2 and FOXC1 as susceptibility loci for primary open-angle glaucoma. 2016
Identification of six new susceptibility loci for invasive epithelial ovarian cancer. 2015
Defining the role of common variation in the genomic and biological architecture of adult human height. 2014
Genome-wide association study identifies multiple susceptibility loci for diffuse large B cell lymphoma. 2014
Genome-wide association study identifies multiple susceptibility loci for pancreatic cancer. 2014
Rare and low-frequency coding variants in CXCR2 and other genes are associated with hematological traits. 2014
Genome-wide association study identifies multiple risk loci for chronic lymphocytic leukemia. 2013
Genome-wide meta-analyses of multiancestry cohorts identify multiple new susceptibility loci for refractive error and myopia. 2013
Genome-wide association analyses identify 18 new loci associated with serum urate concentrations. 2012
Identification of 15 new psoriasis susceptibility loci highlights the role of innate immunity. 2012
Genome-wide association study identifies a susceptibility locus for thoracic aortic aneurysms and aortic dissections spanning FBN1 at 15q21.1. 2011
Common variants in ZNF365 are associated with both mammographic density and breast cancer risk. 2011

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