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Susannah Spiess to Polymorphism, Single Nucleotide

This is a "connection" page, showing publications Susannah Spiess has written about Polymorphism, Single Nucleotide.
  1. Genome-wide association study of Tourette's syndrome. Mol Psychiatry. 2013 Jun; 18(6):721-8.
    View in: PubMed
    Score: 0.238
  2. Common polymorphisms of calpain-10 are associated with abdominal obesity in subjects at high risk of type 2 diabetes. Diabetologia. 2006 Jul; 49(7):1560-6.
    View in: PubMed
    Score: 0.154
  3. Trans-population analysis of genetic mechanisms of ethnic disparities in neuroblastoma survival. J Natl Cancer Inst. 2013 Feb 20; 105(4):302-9.
    View in: PubMed
    Score: 0.122
  4. Variants affecting exon skipping contribute to complex traits. PLoS Genet. 2012; 8(10):e1002998.
    View in: PubMed
    Score: 0.121
  5. Re: CYP2D6 genotype and tamoxifen response in postmenopausal women with endocrine-responsive breast cancer: the Breast International Group 1-98 trial. J Natl Cancer Inst. 2012 Aug 22; 104(16):1264; author reply 1266-8.
    View in: PubMed
    Score: 0.119
  6. Power and sample size calculations for SNP association studies with censored time-to-event outcomes. Genet Epidemiol. 2012 Sep; 36(6):538-48.
    View in: PubMed
    Score: 0.117
  7. Genome-wide ancestry association testing identifies a common European variant on 6q14.1 as a risk factor for asthma in African American subjects. J Allergy Clin Immunol. 2012 Sep; 130(3):622-629.e9.
    View in: PubMed
    Score: 0.117
  8. Replication analysis for severe diabetic retinopathy. Invest Ophthalmol Vis Sci. 2012 Apr 30; 53(4):2377-81.
    View in: PubMed
    Score: 0.117
  9. The role of inflammatory pathway genetic variation on maternal metabolic phenotypes during pregnancy. PLoS One. 2012; 7(3):e32958.
    View in: PubMed
    Score: 0.116
  10. A statistical method for identification of polymorphisms that explain a linkage result. Am J Hum Genet. 2002 Feb; 70(2):399-411.
    View in: PubMed
    Score: 0.114
  11. Platinum sensitivity-related germline polymorphism discovered via a cell-based approach and analysis of its association with outcome in ovarian cancer patients. Clin Cancer Res. 2011 Aug 15; 17(16):5490-500.
    View in: PubMed
    Score: 0.110
  12. Genome-wide meta-analysis for severe diabetic retinopathy. Hum Mol Genet. 2011 Jun 15; 20(12):2472-81.
    View in: PubMed
    Score: 0.108
  13. A study of CNVs as trait-associated polymorphisms and as expression quantitative trait loci. PLoS Genet. 2011 Feb 03; 7(2):e1001292.
    View in: PubMed
    Score: 0.107
  14. Chemotherapeutic drug susceptibility associated SNPs are enriched in expression quantitative trait loci. Proc Natl Acad Sci U S A. 2010 May 18; 107(20):9287-92.
    View in: PubMed
    Score: 0.102
  15. Trait-associated SNPs are more likely to be eQTLs: annotation to enhance discovery from GWAS. PLoS Genet. 2010 Apr 01; 6(4):e1000888.
    View in: PubMed
    Score: 0.101
  16. Comprehensive survey of SNPs in the Affymetrix exon array using the 1000 Genomes dataset. PLoS One. 2010 Feb 23; 5(2):e9366.
    View in: PubMed
    Score: 0.100
  17. SCAN: SNP and copy number annotation. Bioinformatics. 2010 Jan 15; 26(2):259-62.
    View in: PubMed
    Score: 0.098
  18. Expression and alternative splicing of folate pathway genes in HapMap lymphoblastoid cell lines. Pharmacogenomics. 2009 Apr; 10(4):549-63.
    View in: PubMed
    Score: 0.094
  19. Transmission disequilibrium testing of the chromosome 15q11-q13 region in autism. Am J Med Genet B Neuropsychiatr Genet. 2008 Oct 05; 147B(7):1116-25.
    View in: PubMed
    Score: 0.091
  20. Concordant gene expression in leukemia cells and normal leukocytes is associated with germline cis-SNPs. PLoS One. 2008 May 14; 3(5):e2144.
    View in: PubMed
    Score: 0.089
  21. Coverage and characteristics of the Affymetrix GeneChip Human Mapping 100K SNP set. PLoS Genet. 2006 May; 2(5):e67.
    View in: PubMed
    Score: 0.077
  22. Haplotype structure and phylogenetic shadowing of a hypervariable region in the CAPN10 gene. Hum Genet. 2005 Jul; 117(2-3):258-66.
    View in: PubMed
    Score: 0.072
  23. Genetic variants associated with warfarin dose in African-American individuals: a genome-wide association study. Lancet. 2013 Aug 31; 382(9894):790-6.
    View in: PubMed
    Score: 0.063
  24. Comprehensive genetic analysis of cytarabine sensitivity in a cell-based model identifies polymorphisms associated with outcome in AML patients. Blood. 2013 May 23; 121(21):4366-76.
    View in: PubMed
    Score: 0.062
  25. Methods for analysis and visualization of SNP genotype data for complex diseases. Pac Symp Biocomput. 2003; 548-61.
    View in: PubMed
    Score: 0.061
  26. Genome-wide association study identifies germline polymorphisms associated with relapse of childhood acute lymphoblastic leukemia. Blood. 2012 Nov 15; 120(20):4197-204.
    View in: PubMed
    Score: 0.060
  27. A genome-wide association study of breast cancer in women of African ancestry. Hum Genet. 2013 Jan; 132(1):39-48.
    View in: PubMed
    Score: 0.060
  28. Genome-wide association study of obsessive-compulsive disorder. Mol Psychiatry. 2013 Jul; 18(7):788-98.
    View in: PubMed
    Score: 0.059
  29. Geographic and haplotype structure of candidate type 2 diabetes susceptibility variants at the calpain-10 locus. Am J Hum Genet. 2002 May; 70(5):1096-106.
    View in: PubMed
    Score: 0.058
  30. Identification of novel germline polymorphisms governing capecitabine sensitivity. Cancer. 2012 Aug 15; 118(16):4063-73.
    View in: PubMed
    Score: 0.057
  31. Lack of association between common single nucleotide polymorphisms in the TERT-CLPTM1L locus and breast cancer in women of African ancestry. Breast Cancer Res Treat. 2012 Feb; 132(1):341-5.
    View in: PubMed
    Score: 0.057
  32. Genome-wide meta-analysis identifies variants associated with platinating agent susceptibility across populations. Pharmacogenomics J. 2013 Feb; 13(1):35-43.
    View in: PubMed
    Score: 0.056
  33. Genome-wide local ancestry approach identifies genes and variants associated with chemotherapeutic susceptibility in African Americans. PLoS One. 2011; 6(7):e21920.
    View in: PubMed
    Score: 0.055
  34. Identification, replication, and functional fine-mapping of expression quantitative trait loci in primary human liver tissue. PLoS Genet. 2011 May; 7(5):e1002078.
    View in: PubMed
    Score: 0.055
  35. Reconstructability analysis as a tool for identifying gene-gene interactions in studies of human diseases. Stat Appl Genet Mol Biol. 2010; 9:Article18.
    View in: PubMed
    Score: 0.050
  36. Maternal transmission of a rare GABRB3 signal peptide variant is associated with autism. Mol Psychiatry. 2011 Jan; 16(1):86-96.
    View in: PubMed
    Score: 0.049
  37. Identification of common genetic variants that account for transcript isoform variation between human populations. Hum Genet. 2009 Feb; 125(1):81-93.
    View in: PubMed
    Score: 0.046
  38. Prediction of CYP3A4 enzyme activity using haplotype tag SNPs in African Americans. Pharmacogenomics J. 2009 Feb; 9(1):49-60.
    View in: PubMed
    Score: 0.045
  39. SNPs meet CNVs in genome-wide association studies: HGV2007 meeting report. PLoS Genet. 2008 Apr 25; 4(4):e1000068.
    View in: PubMed
    Score: 0.044
  40. Genetic architecture of transcript-level variation in humans. Am J Hum Genet. 2008 May; 82(5):1101-13.
    View in: PubMed
    Score: 0.044
  41. Gene-based SNP mapping of a psychotic bipolar affective disorder linkage region on 22q12.3: association with HMG2L1 and TOM1. Am J Med Genet B Neuropsychiatr Genet. 2008 Jan 05; 147B(1):59-67.
    View in: PubMed
    Score: 0.043
  42. Identification of type 2 diabetes genes in Mexican Americans through genome-wide association studies. Diabetes. 2007 Dec; 56(12):3033-44.
    View in: PubMed
    Score: 0.042
  43. Association studies of variants in the genes involved in pancreatic beta-cell function in type 2 diabetes in Japanese subjects. Diabetes. 2006 Aug; 55(8):2379-86.
    View in: PubMed
    Score: 0.039
  44. Association of the calpain-10 gene with type 2 diabetes in Europeans: results of pooled and meta-analyses. Mol Genet Metab. 2006 Sep-Oct; 89(1-2):174-84.
    View in: PubMed
    Score: 0.039
  45. Genome wide association studies for diabetes: perspective on results and challenges. Pediatr Diabetes. 2013 Mar; 14(2):90-6.
    View in: PubMed
    Score: 0.031
  46. Network models of genome-wide association studies uncover the topological centrality of protein interactions in complex diseases. J Am Med Inform Assoc. 2013 Jul-Aug; 20(4):619-29.
    View in: PubMed
    Score: 0.031
  47. Genetic risk factors for type 2 diabetes: a trans-regulatory genetic architecture? Am J Hum Genet. 2012 Sep 07; 91(3):466-77.
    View in: PubMed
    Score: 0.030
  48. Clinical translation of cell-based pharmacogenomic discovery. Clin Pharmacol Ther. 2012 Oct; 92(4):425-7.
    View in: PubMed
    Score: 0.030
  49. Genetic architecture of microRNA expression: implications for the transcriptome and complex traits. Am J Hum Genet. 2012 Jun 08; 90(6):1046-63.
    View in: PubMed
    Score: 0.029
  50. Population differences in microRNA expression and biological implications. RNA Biol. 2011 Jul-Aug; 8(4):692-701.
    View in: PubMed
    Score: 0.028
  51. Copy number polymorphisms and anticancer pharmacogenomics. Genome Biol. 2011; 12(5):R46.
    View in: PubMed
    Score: 0.027
  52. The use of genomic information to optimize cancer chemotherapy. Semin Oncol. 2011 Apr; 38(2):186-95.
    View in: PubMed
    Score: 0.027
  53. The missing association: sequencing-based discovery of novel SNPs in VKORC1 and CYP2C9 that affect warfarin dose in African Americans. Clin Pharmacol Ther. 2011 Mar; 89(3):408-15.
    View in: PubMed
    Score: 0.027
  54. Hyperglycemia and Adverse Pregnancy Outcome (HAPO) study: common genetic variants in GCK and TCF7L2 are associated with fasting and postchallenge glucose levels in pregnancy and with the new consensus definition of gestational diabetes mellitus from the International Association of Diabetes and Pregnancy Study Groups. Diabetes. 2010 Oct; 59(10):2682-9.
    View in: PubMed
    Score: 0.026
  55. Spoiling the whole bunch: quality control aimed at preserving the integrity of high-throughput genotyping. Am J Hum Genet. 2010 Jul 09; 87(1):123-8.
    View in: PubMed
    Score: 0.026
  56. Genetic variations in GRIA1 on chromosome 5q33 related to asparaginase hypersensitivity. Clin Pharmacol Ther. 2010 Aug; 88(2):191-6.
    View in: PubMed
    Score: 0.026
  57. PACdb: a database for cell-based pharmacogenomics. Pharmacogenet Genomics. 2010 Apr; 20(4):269-73.
    View in: PubMed
    Score: 0.025
  58. Population-specific GSTM1 copy number variation. Hum Mol Genet. 2009 Jan 15; 18(2):366-72.
    View in: PubMed
    Score: 0.023
  59. Identification of genetic variants and gene expression relationships associated with pharmacogenes in humans. Pharmacogenet Genomics. 2008 Jun; 18(6):545-9.
    View in: PubMed
    Score: 0.022
  60. Interpreting P values in pharmacogenetic studies: a call for process and perspective. J Clin Oncol. 2007 Oct 10; 25(29):4513-5.
    View in: PubMed
    Score: 0.021
  61. Meta-analysis of 23 type 2 diabetes linkage studies from the International Type 2 Diabetes Linkage Analysis Consortium. Hum Hered. 2008; 66(1):35-49.
    View in: PubMed
    Score: 0.020
  62. Association testing of the positional and functional candidate gene SLC1A1/EAAC1 in early-onset obsessive-compulsive disorder. Arch Gen Psychiatry. 2006 Jul; 63(7):778-85.
    View in: PubMed
    Score: 0.019
  63. Integrating cell-based and clinical genome-wide studies to identify genetic variants contributing to treatment failure in neuroblastoma patients. Clin Pharmacol Ther. 2014 Jun; 95(6):644-52.
    View in: PubMed
    Score: 0.017
  64. A genome-wide association study of early-onset breast cancer identifies PFKM as a novel breast cancer gene and supports a common genetic spectrum for breast cancer at any age. Cancer Epidemiol Biomarkers Prev. 2014 Apr; 23(4):658-69.
    View in: PubMed
    Score: 0.016
  65. Association of the calpain-10 gene with type 2 diabetes mellitus in a Mexican population. Mol Genet Metab. 2004 Feb; 81(2):122-6.
    View in: PubMed
    Score: 0.016
  66. Partitioning the heritability of Tourette syndrome and obsessive compulsive disorder reveals differences in genetic architecture. PLoS Genet. 2013 Oct; 9(10):e1003864.
    View in: PubMed
    Score: 0.016
  67. A nondegenerate code of deleterious variants in Mendelian loci contributes to complex disease risk. Cell. 2013 Sep 26; 155(1):70-80.
    View in: PubMed
    Score: 0.016
  68. Fine mapping of breast cancer genome-wide association studies loci in women of African ancestry identifies novel susceptibility markers. Carcinogenesis. 2013 Jul; 34(7):1520-8.
    View in: PubMed
    Score: 0.015
  69. Integration of cell line and clinical trial genome-wide analyses supports a polygenic architecture of Paclitaxel-induced sensory peripheral neuropathy. Clin Cancer Res. 2013 Jan 15; 19(2):491-9.
    View in: PubMed
    Score: 0.015
  70. Evaluation of 19 susceptibility loci of breast cancer in women of African ancestry. Carcinogenesis. 2012 Apr; 33(4):835-40.
    View in: PubMed
    Score: 0.014
  71. Mixed effects modeling of proliferation rates in cell-based models: consequence for pharmacogenomics and cancer. PLoS Genet. 2012 Feb; 8(2):e1002525.
    View in: PubMed
    Score: 0.014
  72. Enrichment of cis-regulatory gene expression SNPs and methylation quantitative trait loci among bipolar disorder susceptibility variants. Mol Psychiatry. 2013 Mar; 18(3):340-6.
    View in: PubMed
    Score: 0.014
  73. Genome-wide association study of type 2 diabetes in a sample from Mexico City and a meta-analysis of a Mexican-American sample from Starr County, Texas. Diabetologia. 2011 Aug; 54(8):2038-46.
    View in: PubMed
    Score: 0.014
  74. Ancestry and pharmacogenomics of relapse in acute lymphoblastic leukemia. Nat Genet. 2011 Mar; 43(3):237-41.
    View in: PubMed
    Score: 0.013
  75. The neutrophil alloantigen HNA-3a (5b) is located on choline transporter-like protein 2 and appears to be encoded by an R>Q154 amino acid substitution. Blood. 2010 Mar 11; 115(10):2073-6.
    View in: PubMed
    Score: 0.012
  76. A genome-wide association study identifies a novel major locus for glycemic control in type 1 diabetes, as measured by both A1C and glucose. Diabetes. 2010 Feb; 59(2):539-49.
    View in: PubMed
    Score: 0.012
  77. Genome-wide association study to identify novel loci associated with therapy-related myeloid leukemia susceptibility. Blood. 2009 May 28; 113(22):5575-82.
    View in: PubMed
    Score: 0.012
  78. Evaluation of genetic variation contributing to differences in gene expression between populations. Am J Hum Genet. 2008 Mar; 82(3):631-40.
    View in: PubMed
    Score: 0.011
  79. A genome-wide approach to identify genetic variants that contribute to etoposide-induced cytotoxicity. Proc Natl Acad Sci U S A. 2007 Jun 05; 104(23):9758-63.
    View in: PubMed
    Score: 0.010
  80. Fine mapping and positional candidate studies on chromosome 5p13 identify multiple asthma susceptibility loci. J Allergy Clin Immunol. 2006 Aug; 118(2):396-402.
    View in: PubMed
    Score: 0.010
  81. The linkage and association of the gene encoding upstream stimulatory factor 1 with type 2 diabetes and metabolic syndrome in the Chinese population. Diabetologia. 2005 Oct; 48(10):2018-24.
    View in: PubMed
    Score: 0.009
  82. Findings in an independent sample support an association between bipolar affective disorder and the G72/G30 locus on chromosome 13q33. Mol Psychiatry. 2004 Jan; 9(1):87-92; image 5.
    View in: PubMed
    Score: 0.008
  83. Variation in the interleukin 4-receptor alpha gene confers susceptibility to asthma and atopy in ethnically diverse populations. Am J Hum Genet. 2000 Feb; 66(2):517-26.
    View in: PubMed
    Score: 0.006
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