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  1. Hazen, J.L., et al., The Complete Genome Sequences, Unique Mutational Spectra, and Developmental Potency of Adult Neurons Revealed by Cloning. Neuron, 2016. 89(6): p. 1223-36.
  2. Erikson, G.A., et al., Whole-Genome Sequencing of a Healthy Aging Cohort. Cell, 2016.
  3.  Topol, E.J., S.R. Steinhubl, and A. Torkamani, Digital medical tools and sensors. Jama, 2015. 313(4): p. 353-4.
  4.  Pham, P.H., et al., Scripps Genome ADVISER: Annotation and Distributed Variant Interpretation SERver. PLoS One, 2015. 10(2): p. e0116815.
  5. Molparia, B., P.H. Pham, and A. Torkamani, Symptom-driven idiopathic disease gene identification. Genet Med, 2015. 17(11): p. 859-65.
  6. Erikson, G.A., et al., SG-ADVISER CNV: copy-number variant annotation and interpretation. Genet Med, 2015. 17(9): p. 714-8.
  7. Chen, D.H., et al., ADCY5-related dyskinesia: Broader spectrum and genotype-phenotype correlations. Neurology, 2015. 85(23): p. 2026-35.
  8. Bloss, C.S., et al., A genome sequencing program for novel undiagnosed diseases. Genet Med, 2015. 17(12): p. 995-1001.
  9. Torkamani, A., et al., De novo KCNB1 mutations in epileptic encephalopathy. Ann Neurol, 2014. 76(4): p. 529-40.
  10. Scott-Van Zeeland, A.A., et al., Evidence for the role of EPHX2 gene variants in anorexia nervosa. Mol Psychiatry, 2014. 19(6): p. 724-32.
  11. Larman, H.B., et al., Sensitive, multiplex and direct quantification of RNA sequences using a modified RASL assay. Nucleic Acids Res, 2014. 42(14): p. 9146-57.
  12. Emamjomeh, A., et al., Protein-protein interaction prediction by combined analysis of genomic and conservation information. Genes Genet Syst, 2014. 89(6): p. 259-72.
  13. Chen, Y.Z., et al., Gain-of-function ADCY5 mutations in familial dyskinesia with facial myokymia. Ann Neurol, 2014. 75(4): p. 542-9.
  14. Brownstein, C.A., et al., An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge. Genome Biol, 2014. 15(3): p. R53.
  15. Belani, R., et al., ASXL1 and DNMT3A mutation in a cytogenetically normal B3 thymoma. Oncogenesis, 2014. 3: p. e111.
  16. Wang, F., et al., Reshaping antibody diversity. Cell, 2013. 153(6): p. 1379-93.
  17. Schork, A.J., et al., All SNPs are not created equal: genome-wide association studies reveal a consistent pattern of enrichment among functionally annotated SNPs. PLoS Genet, 2013. 9(4): p. e1003449.
  18. Paliwal, A., et al., Comparative anatomy of chromosomal domains with imprinted and non-imprinted allele-specific DNA methylation. PLoS Genet, 2013. 9(8): p. e1003622.
  19. Choi, N.M., et al., Deep sequencing of the murine IgH repertoire reveals complex regulation of nonrandom V gene rearrangement frequencies. J Immunol, 2013. 191(5): p. 2393-402.
  20. Verma-Gaur, J., et al., Noncoding transcription within the Igh distal V(H) region at PAIR elements affects the 3D structure of the Igh locus in pro-B cells. Proc Natl Acad Sci U S A, 2012. 109(42): p. 17004-9.
  21. Torkamani, A. and N.J. Schork, Background gene expression networks significantly enhance drug response prediction by transcriptional profiling. Pharmacogenomics J, 2012. 12(5): p. 446-52.
  22. Torkamani, A., et al., Clinical implications of human population differences in genome-wide rates of functional genotypes. Front Genet, 2012. 3: p. 211.
  23. Tewhey, R., et al., Genetic structure of community acquired methicillin-resistant Staphylococcus aureus USA300. BMC Genomics, 2012. 13: p. 508.
  24. Shih, H.Y., et al., Tcra gene recombination is supported by a Tcra enhancer- and CTCF-dependent chromatin hub. Proc Natl Acad Sci U S A, 2012. 109(50): p. E3493-502.
  25. Malyshev, D.A., et al., Efficient and sequence-independent replication of DNA containing a third base pair establishes a functional six-letter genetic alphabet. Proc Natl Acad Sci U S A, 2012. 109(30): p. 12005-10.
  26. Cheng, J., et al., Plasma membrane associated transcription of cytoplasmic DNA. Proc Natl Acad Sci U S A, 2012. 109(27): p. 10827-31.
  27. Aoki-Ota, M., et al., Skewed primary Igkappa repertoire and V-J joining in C57BL/6 mice: implications for recombination accessibility and receptor editing. J Immunol, 2012. 188(5): p. 2305-15.
  28. Zhang, H., et al., Phenotype-information-phenotype cycle for deconvolution of combinatorial antibody libraries selected against complex systems. Proc Natl Acad Sci U S A, 2011. 108(33): p. 13456-61.
  29. Vlad, G., et al., Gene profile analysis of CD8(+) ILT3-Fc induced T suppressor cells. Hum Immunol, 2011. 72(2): p. 107-14.
  30. Torkamani, A., et al., Annotating individual human genomes. Genomics, 2011. 98(4): p. 233-41.
  31. Tewhey, R., et al., The importance of phase information for human genomics. Nat Rev Genet, 2011. 12(3): p. 215-23.
  32. Sebastiani, P., et al., Whole genome sequences of a male and female supercentenarian, ages greater than 114 years. Front Genet, 2011. 2: p. 90.
  33. Pazirandeh, A., A. Torkamani, and A. Taheri, Design and simulation of a neutron source based on an electron linear accelerator for BNCT of skin melanoma. Appl Radiat Isot, 2011. 69(5): p. 749-55.
  34. Komori, H.K., et al., Application of microdroplet PCR for large-scale targeted bisulfite sequencing. Genome Res, 2011. 21(10): p. 1738-45.
  35. Degner, S.C., et al., CCCTC-binding factor (CTCF) and cohesin influence the genomic architecture of the Igh locus and antisense transcription in pro-B cells. Proc Natl Acad Sci U S A, 2011. 108(23): p. 9566-71.
  36. Cheng, J., et al., Ectopic B-cell clusters that infiltrate transplanted human kidneys are clonal. Proc Natl Acad Sci U S A, 2011. 108(14): p. 5560-5.
  37. Bansal, V., et al., An application and empirical comparison of statistical analysis methods for associating rare variants to a complex phenotype. Pac Symp Biocomput, 2011: p. 76-87.
  38. Torkamani, A., et al., Coexpression network analysis of neural tissue reveals perturbations in developmental processes in schizophrenia. Genome Res, 2010. 20(4): p. 403-12.
  39. Ota, M., et al., Regulation of the B cell receptor repertoire and self-reactivity by BAFF. J Immunol, 2010. 185(7): p. 4128-36.
  40. Lahiry, P., et al., Kinase mutations in human disease: interpreting genotype-phenotype relationships. Nat Rev Genet, 2010. 11(1): p. 60-74.
  41. Kerkel, K., et al., Altered DNA methylation in leukocytes with trisomy 21. PLoS Genet, 2010. 6(11): p. e1001212.
  42. Chang, C.C., et al., BCL6 is required for differentiation of Ig-like transcript 3-Fc-induced CD8+ T suppressor cells. J Immunol, 2010. 185(10): p. 5714-22.
  43. Bansal, V., et al., Statistical analysis strategies for association studies involving rare variants. Nat Rev Genet, 2010. 11(11): p. 773-85.
  44. Torkamani, A., G. Verkhivker, and N.J. Schork, Cancer driver mutations in protein kinase genes. Cancer Lett, 2009. 281(2): p. 117-27.
  45. Torkamani, A. and N.J. Schork, Prestige centrality-based functional outlier detection in gene expression analysis. Bioinformatics, 2009. 25(17): p. 2222-8.
  46. Torkamani, A. and N.J. Schork, Identification of rare cancer driver mutations by network reconstruction. Genome Res, 2009. 19(9): p. 1570-8.
  47. Torkamani, A. and N.J. Schork, Pathway and network analysis with high-density allelic association data. Methods Mol Biol, 2009. 563: p. 289-301.
  48. Dixit, A., et al., Sequence and structure signatures of cancer mutation hotspots in protein kinases. PLoS One, 2009. 4(10): p. e7485.
  49. Dixit, A., et al., Computational modeling of structurally conserved cancer mutations in the RET and MET kinases: the impact on protein structure, dynamics, and stability. Biophys J, 2009. 96(3): p. 858-74.
  50. Torkamani, A., E.J. Topol, and N.J. Schork, Pathway analysis of seven common diseases assessed by genome-wide association. Genomics, 2008. 92(5): p. 265-72.
  51. Torkamani, A. and N.J. Schork, Prediction of cancer driver mutations in protein kinases. Cancer Res, 2008. 68(6): p. 1675-82.
  52. Torkamani, A. and N.J. Schork, Predicting functional regulatory polymorphisms. Bioinformatics, 2008. 24(16): p. 1787-92.
  53. Torkamani, A., et al., Congenital disease SNPs target lineage specific structural elements in protein kinases. Proc Natl Acad Sci U S A, 2008. 105(26): p. 9011-6.
  54. Mosse, Y.P., et al., Identification of ALK as a major familial neuroblastoma predisposition gene. Nature, 2008. 455(7215): p. 930-5.
  55. Torkamani, A. and N.J. Schork, Distribution analysis of nonsynonymous polymorphisms within the human kinase gene family. Genomics, 2007. 90(1): p. 49-58.
  56. Torkamani, A. and N.J. Schork, Accurate prediction of deleterious protein kinase polymorphisms. Bioinformatics, 2007. 23(21): p. 2918-25.
  57. Meyer, T.W., et al., The clearance of protein-bound solutes by hemofiltration and hemodiafiltration. Kidney Int, 2005. 68(2): p. 867-77.