Paul Auer Publications

1. Mavaddat, N., Michailidou, K., Auer, P.L., Dennis, J., et al. (2018) Polygenic risk scores for prediction of breast cancer and breast cancer subtypes. The American Journal of Human Genetics 104:21-34.

2. Simanek, A.M. and Auer, P.L. (2018) Early life Socioeconomic disadvantage and epigenetic programming of a pro-inflammatory phenotype: a review of recent evidence. Current Epidemiology Reports 5:407-417.

3. Polfus, L.M., Raffield, L.M., Wheeler, M.M., Auer, P. L. (2018) Whole genome sequence association with E-selectin levels reveals loss-of-function variant in African Americans. Human Molecular Genetics 28:515-523.

4. Shu, X., Wu, L., Khankari, N.K., et al. (2019) Association of obesity and circulating insulin and glucose with breast cancer risk: a Mendelian randomization analysis. International Journal of Epidemiology 48 (3), 795-806

5. O’Mara, T.A., Glubb, D.M., Amant, F., et al. (2018) Identification of nine new susceptibility loci for endometrial cancer. Nature Communications 9:3166.

6. Tran, T.H., Utama, F.E., Sato, T., et al. (2018) Loss of nuclear localized Parathyroid Hormone related Protein in primary breast cancer predicts poor clinical outcome and correlates with suppressed Stat5 signaling. Clinical Cancer Research 24:6355-6366.

7. O’Mara, T.A., Glubb, D.M., Buchanan, D.D., et al. (2018) Joint genome-wide association study of endometrial cancer and ovarian cancer identifies a novel genetic risk region at 14q23.3. Cancer Research 78:230.

8. Wu, L., Tessier, D., Shi, W., et al. (2018) A transcriptome-wide association study of 229,000 women identifies new candidate susceptibility genes for breast cancer. Nature Genetics 50:968.

9. Rau, A., Flister, M., Rui, H., and Auer, P. L. (2018) Exploring the Drivers of Gene Expression in The Cancer Genome Atlas. Bioinformatics 35:62-68.

10. Laestadius, L., Sebero, H., Myers, A., Mendez, E., et al. (2018) Identifying Disparities and Policy Needs with the STARS Surveillance Tool. Tobacco Regulatory Science 4:12-21.

11. Hu, Y., Raffield, L.M., Polfus, L.M., Moscati, A., et al. (2018) A common TCN1 loss-of-function variant is associated with lower vitamin B12 concentration in African Americans. Blood 131:2859.

12. Raffield, L.M., Ulirsch, J.C., Naik, R.P., Lessard, S., et al. (2018) Common α-globin variants modify hematologic and other clinical phenotypes in sickle cell trait and disease. PLoS Genetics 14 e1007293.

13. Turcot, V., Lu, Y., Highland, H.M., Schurmann, C., et al. (2018) Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity. Nature Genetics 50: 2610.

14. Liu, D.J., Peloso, G.M., Yu, H., Butterworth, A.S., et al. (2017) Exome-wide association study of plasma lipids in > 300,000 individuals. Nature Genetics 49:1758.

15. Milne, R.L., Kuchenbaecker, K.B., Michailidou, K., Beesley, J., et al. (2017) Identification of ten variants associated with risk of estrogen-receptor-negative breast cancer. Nature Genetics 49:1767.

16. Bien, S.A., Auer, P.L., Harrison, T.A., Qu, C., et al. (2017) Enrichment of colorectal cancer associations in functional regions: Insight for using epigenomics data in the analysis of whole genome sequence-imputed GWAS data. PLoS One 12:e0186518.

17. Michailidou, K., Lindstrom, S., Dennis, J., Beesley, J., et al. (2017) Association analysis identifies 65 new breast cancer risk loci. Nature 551:92.

18. Mousas, A., Ntritsos, G., Chen, M.H., Song, C., et al. (2017) Rare coding variants pinpoint genes that control human hematological traits. PLoS Genetics 13:e1006925

19. Auer, P. L. and Stitziel, N.O. (2017) Genetic association studies in cardiovascular diseases: Do we have enough power? Trends in Cardiovascular Medicine 27:397-404.

20. Hodonsky, C.J., Jain, D., Schick, U.M., Morrison, J.V., et al. (2017) Genome-wide association of red blood cell traits in Hispanics/Latinos: the Hispanic Community Health Study/Study of Latinos. PLoS Genetics 13:e1006760.

21. Jain, D., Hodonsky, C.J., Schick, U.M., Morrison, J.V., et al. (2017) Genome-wide association of white blood cell counts in Hispanic/Latino Americans: the Hispanic Community Health Study/Study of Latinos. Human Molecular Genetics 26:1193.

22. Webb, T.R., Erdmann, J., Stirrups, K.E., Stitziel, N.O., et al. (2017) Systematic evaluation of pleiotropy identifies 6 further loci associated with coronary artery disease. Journal of the American College of Cardiology 69:823-836.

23. Marouli, E., Graff, M., Medina-Gomez, C., Lo, K.S., et al. (2017) Rare and low-frequency coding variants alter human adult height. Nature 542:186-190.

24. Laestadius, L, I., Rich, J.R., Auer, P. L. (2017) All your data (effectively) belong to us: practices among direct-to-consumer genetic testing firms. Genetics in Medicine 19:513-520.

25. Auer, P. L. and Leal, S.M. (2017) From exomes to genomes: challenges and solutions in population-based genetic association studies. The European Journal of Human Genetics 25:395396.

26. Auer, P. L., Reiner, A.P. Wang, G., Kang, H.M., et al. (2016) Guidelines for large-scale sequenced-based complex trait association studies: Lessons learned from the NHLBI Exome Sequencing Project. The American Journal of Human Genetics 99:791-801.

27. Iotchkova, V., Huang, J., Morris, J.A., Jain, D., Auer, P. L., Soranzo, N. (2016) Discovery and refinement of genetic loci associated with cardiometabolic risk using dense imputation maps. Nature Genetics 48:1303-1312.

28. Liu, C., Kraja, A.T., Smith, J.A., Brody, J.A., et al. (2016) Meta-analysis identifies common and rare variants influencing blood pressure and overlapping with metabolic trait loci. Nature Genetics 48:1162-1170.

29. Polfus, L.M., Khajuria, R.K., Schick, U.M., Pankratz, N., et al. (2016) Whole-exome sequencing identifies loci associated with blood cell traits and reveals a role for alternative GFI1B splice variants in human hematoploiesis. The American Journal of Human Genetics 99:481-488.

30. Pankratz, N., Schick, U.M., Zhou, Y., Zhou, W., et al. (2016) Meta-analysis of rare and common exome chip variants identifies S1PR4 and other loci influencing blood cell traits. Nature Genetics 48:867-876.

31. Tajuddin, S.M., Schick, U.M., Eicher, J.D., Chami, N., Auer, P. L. (2016) Large-scale exomewide association analysis identifies loci for white blood cell traits and pleiotropy with immunemediated diseases. The American Journal of Human Genetics 99:22-39.

32. Eicher, J.D., Chami, N., Kacprowski, T., Nomura, A., Auer, P. L., Reiner, A.P., Lettre, G., Johnson, A.D. (2016) Platelet-related variants identified by ExomeChip meta-analysis in 157,293 individuals. The American Journal of Human Genetics 99:40-55.

33. Chami, N., Chen, M.H., Slater, A.J., Eicher, J.D., Auer, P. L., Johnson, A.D., Reiner, A.P., Lettre, G. (2016) Exome genotyping identifies pleiotropic variants associated with red blood cell traits. The American Journal of Human Genetics 99:98-21.

34. Maas, P., Barrdahl, M., Joshi, A.D., Auer, P.L., et al. (2016) Breast cancer risk from modifiable and non-modifiable risk factors among white women in the United States. JAMA Oncology2:1295-1302.

35. Joshi, A.D., Andersson, C., Buch, S., Stender, S., et al. (2016) Four susceptibility loci for gallstone disease identified in a meta-analysis of genome-wide association studies. Gastroenterology 151:351-363.

36. Stitziel, N.O., Stirrups, K.E., Masca, N.G.D., Erdmann, J., et al. (2016) Coding variation in ANGPTL4, LPL, and SVEP1 and the risk of coronary disease. The New England Journal of Medicine 374:1898.

37. Lessard, S., Manning, A.K., Low-Kam, C., Auer, P.L., et al. (2016) Testing the role of predicted gene knockouts in human anthropometric trait variation. Human Molecular Genetics 25:20822092.

38. Schick, U.M., Jain, D., Hodonsky, C.J., Morrison, J.V., et al. (2016) Genome-wide association study of platelet count identifies novel, ancestry-specific loci in Hispanic-Latino Americans. The American Journal of Human Genetics 98:229-242.

39. Gaudet, M.M., Barrdahl, M. Lindstrom, S., Travis, R.C., et al. (2016) Interactions between breast cancer susceptibility loci and menopausal hormone therapy in relationship to breast cancer in the Breast and Prostate Cancer Cohort Consortium. Breast Cancer Research and Treatment 155:531-540.

40. Kan, M., Auer, P. L., Wang, G.T, Bucasis, K.L., et al. (2016) Rare variant associations with waist-to-hip ratio in European-American and African-Ameican women from the NHLBI-Exome Sequencing Project. The European Journal of Human Genetics 24:1181-1187.

41. Auer, P. L., Reiner, A.P. and Leal, S.M. (2016) The effect of phenotypic outliers and nonnormality on rare-variant association testing. The European Journal of Human Genetics 24:11881194.

42. Yu, B., Pulit, S.L., Hwang, S-J., Brody, J.A., et al (2016) Rare Exome Sequence Variants in CLCN6 Reduce Blood Pressure Levels and Hypertension Risk Circulation: Cardiovascular Genetics 9:64-70.

43. de Vries, P.S., Chasman, D.I., Sabater-Lleal, M., Chen, M.H., et al. (2016) A meta-analysis of 120,246 individuals identifies 18 new loci for fibrinogen concentration. Human Molecular Genetics. 25:358-370.

44. Zheng, H.F., Forgetta, V., Hsu, Y.H., Estrada, K., et al. (2015) Whole genome sequencing identifies EN1 as a determinant of bone density and fracture. Nature 526:112-117.

45. Huffman J.E., de Vries P.S., Morrison A.C., Sabater-Lleal M., et al. (2015) Rare and low-frequency variants and their association with plasma levels of fibrinogen, FVII, FVIII, and vWF. Blood 126:e19-29.

46. Auer, P. L., Nalls, M., Meschia, J.F., Worrall, B.B., et al. (2015) Rare and coding region genetic variants associated with risk of ischemic stroke: the NHLBI Exome Sequence Project. Journal of the American Medical Association: Neurology 72:781-788.

47. Auer, P. L. and Lettre, G. (2015) Rare-variant association studies: considerations, challenges, and opportunities. Genome Medicine 7:16.

48. Hu, Y., Li, Y. Auer, P. L., Lin, D. (2015) Integrative analysis of sequencing and array genotype data for discovering disease associations with rare mutations. Proceedings of the National Academy of Sciences 112:1019-1024.

49. Do, R., Stitziel, N.O., Won, H., Jorgensen, A.B., et al. (2015) Exome sequencing identifies rare LDLR and APOA5 alleles conferring risk for myocardial infarction. Nature 518:102-106.

50. O’Connor, T.D., Fu, W., Turner, E., Mychaleckyj, J.C., et al. (2015) Rare variation facilitates inferences of fine-scale population structure in humans Molecular Biology and Evolution 32:653660.

51. Naik, R.P., Derebail, V.K., Grams, M.E., Franceschini, N., et al. (2014) Association of Sickle Cell Trait with Chronic Kidney Disease and Albuminuria in African Americans. Journal of the American Medical Association 312:2115-2125.

52. Stitziel, N.O., Won, H., Morrison, A.C., Peloso, G.M., et al. (2014) Inactivating Mutations in NCP1L1 and Protection from Coronary Heart Disease. The New England Journal of Medicine 371:2072-2082.

53. Rosse, S.A., Auer, P. L., Carlson, C.S. (2014) Functional annotation of putative regulatory elements in cancer susceptibility loci. Cancer Informatics 13:(S2)5-17.

54. Jiang, H., Auer, P. L., An, L., and Baladandayuthapani, V. (2014) Classification, Predictive Modelling, and Statistical Analysis of Cancer Data (A). Cancer Informatics 13:(S2)1-3.

55. Schick, U.M., Auer, P. L., Bis, J.C., Lin, H., et al. (2015) Association of Exome Sequencing Variants with CRP levels in European Americans and African Americans: Meta-analysis of results from NHLBI-ESP and CHARGE. Human Molecular Genetics 24:559-571.

56. Tabor, H.K., Auer, P. L., Jamal, S.M., Chong, J.X., et al. (2014) Pathogenic variants for Mendelian and complex traits in exomes of 6,517 European and African Americans: Implications for the Return of Incidental Results. The American Journal of Human Genetics 95:1-11.

57. Du, M., Auer, P. L., Jiao, S., Haessler, J., et al. (2014) Whole-exome imputation of sequence variants identified two novel alleles associated with adult body height in African Americans. Human Molecular Genetics 23:6607-6615.

58. Crosby, J., Peloso, G.M., Auer, P. L., Crosslin, D.R., et al. (2014) Loss-of-Function Mutations in APOC3, Triglycerides, and Coronary Disease. The New England Journal of Medicine 371:22-

59. Barrdahl, M., Canzian, F., Joshi, A.D., Travis, R.C., et al. (2014) Post GWAS gene-environment interplay in breast cancer: results from the Breast and Prostate Cancer Cohort Consortium and a meta-analysis on 79,000 women. Human Molecular Genetics 23:5260-5270.

60. Auer, P. L., Teumer, A., Schick, U., O’Shaughnessy, A., et al. (2014) Rare and low-frequency coding variants in CXCR2 and other genes are associated with hematological traits. Nature Genetics 46:629-634.

61. Kim, D. S., Crosslin, D. R., Auer, P. L., Suzuki, S. M., et al. (2014) Rare coding variation in paraoxonase-1 is associated with ischemic stroke in the NHLBI Exome Sequencing Project. Journal of Lipid Research 55:1173-1178.

62. Ellis, J., Lange, E. M., Li, J., Dupuis, J., et al. (2014) Large Multiethnic Candidate Gene Study for C-Reactive Protein Levels: Identification of a Novel Association at CD36 in African Americans. Human Genetics 133:985-995.

63. Lange, L. A., Hu, Y., Zhang, H., Xue, C., et al. (2014) Whole exome sequencing identifies rare and low frequency coding variants associated with LDL cholesterol. The American Journal of Human Genetics 94:233-245.

64. Peloso, G. M., Auer, P. L., Bis, J. C., Voorman, A., et al. (2014) Association of low-frequency and rare protein-coding sequence variants with blood lipids in 56,000 individuals of European and African-American Ancestries. The American Journal of Human Genetics 94:223-232.

65. Logsdon, B. A., Dai, J. Y., Auer, P. L., Johnsen, J.M., et al. (2014) A variational Bayes discrete mixture test for rare variant association. Genetic Epidemiology 38:21-30.

66. Liu, D. J., Peloso, G. M., Zhan, X., Holmen, O.L., et al. (2014) Meta-Analysis of gene level tests for rare variant association. Nature Genetics 46:200-204.

67. Gordon, A., Tabor, H., Johnson, A.D., Snively, B.M., et al. (2014) Quantifying rare, deleterious variation in 12 human Cytochrome P450 drug-metabolism genes in a large-scale exome dataset. Human Molecular Genetics 23:1957-1963.

68. Stitziel, N., Fouchier, S. W., Sjouke, B., Peloso, G.M., et al. (2013) Exome sequencing and directed clinical phenotyping diagnose cholesterol ester storage disease presenting as autosomal recessive hypercholesterolemia. Arteriosclerosis, Thrombosis, and Vascular Biology 33:2909-2914.

69. Duan, Q., Liu, E. Y., Auer, P. L., Zhang, G., et al. (2013) Imputation of Coding Variants in African Americans: Better Performance using Data from the Exome Sequencing Project. Bioinformatics 29:2744-2749.

70. Johnsen, J., Auer, P. L., Morrison, A., Jiao, S., et al. (2013) Common and rare VWF coding variants, von Willebrand factor (VWF) levels, and factor VIII (FVIII) levels in African Americans: the NHLBI Exome Sequencing Project. Blood 122:590-597.

71. Auer, P. L., Wang, G., Leal, S. M. (2013) Testing for Rare Variant Associations in the Presence of Missing Data. Genetic Epidemiology 37:529-538.

72. Roulin, A., Auer, P. L., Libault, M., Schlueter, J., et al. (2013) The fate of duplicated genes in a polyploid plant genome. The Plant Journal 73:143-153.

73. Cambronne X. A., Shen, R., Auer, P. L., and Goodman, R. H. (2012) Capturing microRNA targets using an RNA-induced silencing complex (RISC)-trap approach Proceedings of the National Academy of Sciences 109:20473-20478.

74. Auer, P. L., Johnsen, J., Johnson, A. D., Logsdon, B. A., et al. (2012) Imputation of exome sequence variants into population-based samples identifies blood cell trait-associated loci in African Americans: the NHLBI GO Exome Sequencing Project. The American Journal of Human Genetics 91:794-808.

75. Reiner, A. P., Beleza, S., Franceschini, N., Auer, P. L., et al. (2012) Genome-wide association and population genetic analysis of C-reactive protein in African American and Hispanic American women: the Women’s Health Initiative SNP Health Association Resource. The American Journal of Human Genetics 91:502-512.

76. Auer, P. L., Srivastava, S., Doerge R. W. (2012) Differential expression - the next generation and beyond. Briefings in Functional Genomics 11(1):57-62.

77. Auer, P. L. and Doerge, R. W. (2011). A two-stage Poisson model for testing RNA-seq data. Statistical Applications in Genetics and Molecular Biology 10(1):26.

78. Auer, P. L. and Doerge, R. W. (2010). Statistical design and analysis of RNA sequencing data. Genetics 185:405-416.