Peer Reviewed Manuscripts

43. Wong WH, Bhatt S, Trinkaus K, Pusic I, Elliott K, Mahajan N, Wan F, Switzer GE, Confer DL, DiPersio J, Pulsipher MA, Shah NN, Sees J, Bystry A, Blundell JR, Shaw BE, Druley TE. (2020) Engraftment of rare, pathogenic donor hematopoietic mutations in unrelated hematopoietic stem cell transplantation. Sci Transl Med. [full text] [doi: 10.1126/scitranslmed.aax6249.] [PMID: 31941826]

42.  Wong WH, Tong RS, Young AL, Druley TE. (2018) Rare Event Detection Using Error-corrected DNA and RNA Sequencing. J Vis Exp [full text][doi: 10.3791/57509][PMID:30124656]

41. Groves AP, Gettinger K, Druley TE, Kozel BA, Shinawi M, Mohrmann C, Henry J, Jacobi C, Trinkaus K, Hayashi RJ. (2018) Special Therapy and Psychosocial Needs Identified in a Multidisciplinary Cancer Predisposition Syndrome Clinic. J Pediatr Hematol Oncol  [full text][doi: 10.1097/MPH.0000000000001251][PMID: 30028825 ]

40. Azar C, Valentine M, Trausch-Azar J, Druley T, Nelson DM, Schwartz AL. (2018) RNA-Seq identifies genes whose proteins are transformative in the differentiation of cytotrophoblast to syncytiotrophoblast, in human primary villous and BeWo trophoblasts.  Sci Rep. Mar 23;8(1):5142. doi: 10.1038/s41598-018-23379-2. PMID: 29572450

39. Marcotte EL, Druley TE, Johnson KJ, Richardson M, von Behren J, Mueller BA, Carozza S, McLaughlin C, Chow EJ, Reynolds P, Spector LG. (2017) Parental Age and Risk of Infant Leukaemia: A Pooled Analysis. Paediatr Perinat Epidemiol [full text][doi:10.1002/ajmg.a.38387][PMID:28940632 ]

38. Wong-Siegel JR, Johnson KJ, Gettinger K, Cousins N, McAmis N, Zamarione A, Druley TE. (2017) Congenital neurodevelopmental anomalies in pediatric and young adult cancer. Am J Med Genet A., 173(10):2670-2679.[full text][10.1111/ppe.12412][PMID:28851129 ]

37. Johnson KJ, Lee JM, Ahsan K, Padda H, Feng Q, Partap S, Fowler SA, Druley TE. (2017) Pediatric cancer risk in association with birth defects: A systematic review.PLoS One, 12(7)e0181246.[full text][doi:10.1371/journal.pone.0181246][PMID:28749971 ]

36. Kalish JM, Doros L, Helman LJ, Hennekam RC, Kuiper RP, Maas SM, Maher ER, Nichols KE, Plon SE, Porter CC, Rednam S, Schultz KAP, States LJ, Tomlinson GE, Zelley K, Druley TE. (2017) Surveillance Recommendations for Children with Overgrowth Syndromes and Predisposition to Wilms Tumors and Hepatoblastoma. Clin Cancer Res, 23(13)e115-e122.[full text][doi:10.1158/1078-0432.CCR-17-0710][PMID:28674120 ]

35. Porter CC, Druley TE, Erez A, Kuiper RP, Onel K, Schiffman JD, Wolfe Schneider K, Scollon SR, Scott HS, Strong LC, Walsh MF, Nichols KE. (2017) Recommendations for Surveillance for Children with Leukemia-Predisposing Conditions.Clin Cancer Res, 23(11)e14-e22.[full text][doi:10.1158/1078-0432.CCR-17-0428][PMID:28572263 ]

34. Creamer JP, Dege C, Ren Q, Ho JTK, Valentine MC, Druley TE, Sturgeon CM. (2017) Human definitive hematopoietic specification from pluripotent stem cells is regulated by mesodermal expression of CDX4. Blood, 129:2988-2992.[full text][doi:10.1182/blood-2016-11-749382][PMID: 28408465 ]

33. Kramer AC, Kothari A, Wilson WC, Celik H, Nikitas J, Mallaney C, Ostrander EL, Eultgen E, Martens A, Valentine MC, Young AL, Druley TE, Figueroa ME, Zhang B, Challen GA. (2017) Dnmt3a regulates T-cell development and suppresses T-ALL transformation. Leukemia, 2017 April. [doi: 10.1038/leu.2017.89][PMCID: 28321121]

32. Young A.L., Challen G.A., Birmann B.M., Druley T.E. (2016) Clonal haematopoiesis harbouring AML-associated mutations is ubiquitous in healthy adults. Nat Commun, 7:12484. [full text][doi:10.1038/ncomms12484][PMCID: PMC4996934]

31. Druley, TE. (2016) The relative contributions of germline variation, epimutation, and somatic mutation to paediatric leukemia predisposition. EMJ Hematol. 4(1):110-116.

30. Druley T.E., Wang L., Lin S.J., Lee J.H., Zhang Q., Daw E.W., Abel H.J., Chasnoff S.E., Ramos E.I., Levinson B.T., Thyagarajan B., Newman A.B., Christensen K., Mayeux R., Province M.A. (2016) Candidate gene resequencing to identify rare, pedigree-specific variants influencing healthy aging phenotypes in the long life family study. BMC Geriatr, 16:80. [full text][doi: 10.1186/s12877-016-0253-y][PMCID: PMC4826550]

29. Torgerson, D.G., Giri, T., Druley, T.E., Zheng, J., Huntsman, S., Seibold, M.A., Young, A.L., Schweiger, T., Yin-Declue, H., Sajol, G.D., Schechtman, K.B., Hernandez, R.D., Randolph, A.G., Bacharier, L.B., Castro, M. (2015) Pooled Sequencing of Candidate Genes Implicates Rare Variants in the Development of Asthma Following Severe RSV Bronchiolitis in Infancy. PLoS One, 10(11):e0142649. [full text][doi: 10.1371/journal.pone.0142649][PMCID: PMC4654486]

28. Hing, B., Ramos, E., Braun, P., McKane, M., Jancic, D., Tamashiro, K.L.K., Lee, R.S.,  Michaelson, J.J., Druley, T.E., Potash, J.B. (2015) Adaptation of the targeted capture Methyl-Seq platform for the mouse genome identifies novel tissue-specific DNA methylation patterns of genes involved in neurodevelopment. Epigenetics, 10(7):581-96. [full text][doi:10.1080/15592294.2015.1045179][PMCID: PMC4622595]

27. Young, A.L., Wong, T.N., Hughes, A.E.O., Heath, S.E., Ley, T.J., Link, D.C., Druley, T.E. (2015) Quantifying ultra-rare pre-leukemic clones via targeted error-corrected sequencing. Leukemia, 2015 Jul; 29(7):1608-11. [full text][doi: 10.1038/leu.2015.17] [PMCID: PMC4497921 ]

26. Wong, T.N.*, Ramsingh, G.*, Young, A.L.*, Miller, C.A., Touma, W., Welch, J.S., Lamprecht, T., Shen, D., Hundal, J., Fulton, R.S., Heath, S., Baty, J.D., Ding, L., Mardis, E.R., Westervelt, P., DiPersio, J.F., Walter, M.J., Graubert, T.A., Ley, T.J., Druley, T.E., Link, D.C., Wilson, R.K. (2014) The role of early TP53 mutations in the evolution of therapy-related AML. Nature, 518(7540):552-5. [full text][doi: 10.1038/nature13968] [PMCID: PMC4403236]

25. Warrington, N. M., Sun, T., Luo, J., Mckinstry, R. C., Parkin, P. C., Ganzhorn, S., Spoljaric, D., Albers, A. C., Merkelson, A., Stewart, D. R., Stevenson, D. A., Viskochil, D., Druley, T. E., Forys, J. T., Reilly, K. M., Fisher, M. J., Tabori, U., Allen, J. C., Schiffman, J., Gutmann, D. H., Rubin, J. B. (2014) The cyclic AMP pathway is a sex-specific modifier of glioma risk in type 1 neurofibromatosis patients. Cancer Res. 75(1):16-21. [doi: 10.1158/0008-5472. CAN-14-1891] [PMCID: PMC4286430]

24. Madden, L. M., Ngwube, A. I., Shenoy, S., Druley, T. E., Hayashi, R. J. (2014) Late toxicity of a novel allogeneic stem cell transplant using single fraction total body irradiation for hematologic malignancies in children. J Pediatr Hematol Oncol. 2015 Mar; 37(2):e94-e101. [doi: 10.1097/MPH.0000000000000272] [PMCID: PMC4337424]

23. Wambach, J. A., Wegner, D. J., Heins, H. B., Druley, T. E., Mitra, R. D., Hamvas, A., Cole, F. S. (2014). Synonymous ABCA3 variants do not increase risk for neonatal respiratory distress syndrome. J Pediatr, 164 (6), 1316-21.e3. [doi: 10.1016/j.jpeds.2014.02.021] [PMCID: PMC4035386]

22. Valentine, M. C., Linabery, A. M., Chasnoff, S., Hughes, A. E., Mallaney, C., Sanchez, N., Giacalone, J., Heerema, N. A., Hilden, J. M., Spector, L. G., Ross, J. A., Druley, T. E. (2014). Excess congenital non-synonymous variation in leukemia-associated genes in MLL- infant leukemia: a Children’s Oncology Group report. Leukemia, 28 (6), 1235-41. [doi: 10.1038/leu.2013.367] [PMCID: PMC4045651]

21. Ramos, E. I., Bien-Willner, G. A., Li, J., Hughes, A. E., Giacalone, J., Chasnoff, S., Kulkarni, S., Parmacek, M., Cole, F. S., Druley, T. E. (2014). Genetic variation in MKL2 and decreased downstream PCTAIRE1 expression in extreme, fatal primary human microcephaly. Clin Genet, 85 (5), 423-32. [doi: 10.1111/cge.12197] [PMCID: PMC3929543]

20. Alvarado, D. M., Yang, P., Druley, T. E., Lovett, M., Gurnett, C. A. (2014). Multiplexed direct genomic selection (MDiGS): a pooled BAC capture approach for highly accurate CNV and SNP/INDEL detection. Nucleic Acids Res, 42 (10), e82. [doi: 10.1093/nar/gku218] [PMCID: PMC4041413]

19. Kanchi, K. L., Johnson, K. J., Lu, C., McLellan, M. D., Leiserson, M. D., Wendl, M. C., Zhang, Q., Koboldt, D. C., Xie, M., Kandoth, C., McMichael, J. F., Wyczalkowski, M. A., Larson, D. E., Schmidt, H. K., Miller, C. A., Fulton, R. S., Spellman, P. T., Mardis, E. R., Druley, T. E., Graubert, T. A., Goodfellow, P. J., Raphael, B. J., Wilson, R. K., Ding, L. (2014). Integrated analysis of germline and somatic variants in ovarian cancer. Nat Commun, 5, 3156. [doi: 10.1038/ncomms4156] [PMCID: PMC4025965]

18. Lee, J. H., Cheng, R., Honig, L. S., Feitosa, M., Kammerer, C. M., Kang, M. S., Schupf, N., Lin, S. J., Sanders, J. L., Bae, H., Druley, T., Perls, T., Christensen, K., Province, M., Mayeux, R. (2013). Genome wide association and linkage analyses identified three loci-4q25, 17q23.2, and 10q11.21-associated with variation in leukocyte telomere length: the Long Life Family Study. Front Genet, 4, 310. [doi: 10.3389/fgene.2013.00310] [PMCID: PMC3894567]

17. Ramos, E.*, Levinson, B. T.*, Chasnoff, S., Hughes, A., Young, A. L., Thornton, K., Li, A., Vallania, F. L., Province, M., Druley, T. E. (2012). Population-based rare variant detection via pooled exome or custom hybridization capture with or without individual indexing. BMC Genomics, 13, 683. [doi: 10.1186/1471-2164-13-683] [PMCID: PMC3534616]

16. Wambach, J. A., Wegner, D. J., Depass, K., Heins, H., Druley, T. E., Mitra, R. D., An, P., Zhang, Q., Nogee, L. M., Cole, F. S., Hamvas, A. (2012). Single ABCA3 mutations increase risk for neonatal respiratory distress syndrome. Pediatrics, 130 (6), e1575-82. [doi: 10.1542/peds.2012-0918] [PMCID: PMC3507255]

15. Chatterjee, R., Ramos, E., Hoffman, M., VanWinkle, J., Martin, D. R., Davis, T. K., Hoshi, M., Hmiel, S. P., Beck, A., Hruska, K., Coplen, D., Liapis, H., Mitra, R., Druley, T., Austin, P., Jain, S. (2012). Traditional and targeted exome sequencing reveals common, rare and novel functional deleterious variants in RET-signaling complex in a cohort of living US patients with urinary tract malformations. Hum Genet, 131 (11), 1725-38. [doi: 10.1007/s00439-012-1181-3] [PMCID: PMC3551468]

14. Horani, A.*, Druley, T. E.*, Zariwala, M. A., Patel, A. C., Levinson, B. T., Van Arendonk, L. G., Thornton, K. C., Giacalone, J. C., Albee, A. J., Wilson, K. S., Turner, E. H., Nickerson, D. A., Shendure, J., Bayly, P. V., Leigh, M. W., Knowles, M. R., Brody, S. L., Dutcher, S. K., Ferkol, T. W. (2012). Whole-exome capture and sequencing identifies HEATR2 mutation as a cause of primary ciliary dyskinesia. Am J Hum Genet, 91 (4), 685-93. [doi: 10.1016/j.ajhg.2012.08.022] [PMCID: PMC3484505]

13. Vallania, F., Ramos, E., Cresci, S., Mitra, R. D., Druley, T. E. (2012). Detection of rare genomic variants from pooled sequencing using SPLINTER. J Vis Exp, 64 (64), [doi: 10.3791/3943] [PMCID: PMC3471313]

12. Haller, G., Druley, T., Vallania, F. L., Mitra, R. D., Li, P., Akk, G., Steinbach, J. H., Breslau, N., Johnson, E., Hatsukami, D., Stitzel, J., Bierut, L. J., Goate, A. M. (2012). Rare missense variants in CHRNB4 are associated with reduced risk of nicotine dependence. Hum Mol Genet, 21 (3), 647-55. [doi: 10.1093/hmg/ddr498] [PMCID: PMC3259016]

11. Vallania, F. L., Druley, T. E., Ramos, E., Wang, J., Borecki, I., Province, M., Mitra, R. D. (2010). High-throughput discovery of rare insertions and deletions in large cohorts. Genome Res, 20 (12), 1711-8. [doi: 10.1101/gr.109157.110] [PMCID: PMC2989997]

10. Ziga, E. D., Druley, T., Burnham, C. A. (2010). Herbaspirillum species bacteremia in a pediatric oncology patient. J Clin Microbiol, 48 (11), 4320-1. [doi: 10.1128/JCM.01479-10] [PMCID: PMC3020882]

9. Gurnett, C. A., Desruisseau, D. M., McCall, K., Choi, R., Meyer, Z. I., Talerico, M., Miller, S. E., Ju, J. S., Pestronk, A., Connolly, A. M., Druley, T. E., Weihl, C. C., Dobbs, M. B. (2010). Myosin binding protein C1: a novel gene for autosomal dominant distal arthrogryposis type 1. Hum Mol Genet, 19 (7), 1165-73. [doi: 10.1093/hmg/ddp587] [PMCID: PMC2838534]

8. Matkovich, S. J., Van Booven, D. J., Hindes, A., Kang, M. Y., Druley, T. E., Vallania, F. L., Mitra, R. D., Reilly, M. P., Cappola, T. P., Dorn GW, 2nd (2010). Cardiac signaling genes exhibit unexpected sequence diversity in sporadic cardiomyopathy, revealing HSPB7 polymorphisms associated with disease. J Clin Invest, 120 (1), 280-9. [doi: 10.1172/JCI39085] [PMCID: PMC2798680]

7. Schuettpelz, L. G., Behrens, D., Goldsmith, M. I., Druley, T. E. (2009). Severe ceftriaxone-induced hemolysis complicated by diffuse cerebral ischemia in a child with sickle cell disease. J Pediatr Hematol Oncol, 31 (11), 870-2 [doi: 10.1097/MPH.0b013e3181b7eda2] [PMID: 19829151]

6. Druley, T. E., Vallania, F. L., Wegner, D. J., Varley, K. E., Knowles, O. L., Bonds, J. A., Robison, S. W., Doniger, S. W., Hamvas, A., Cole, F. S., Fay, J. C., Mitra, R. D. (2009). Quantification of rare allelic variants from pooled genomic DNA. Nat Methods, 6 (4), 263-5. [doi: 10.1038/nmeth.1307] [PMCID: PMC2776647]

5. Druley, T. E., Hayashi, R., Mansur, D. B., Zhang, Q. J., Barnes, Y., Trinkaus, K., Witty, S., Thomas, T., Klein, E. E., DiPersio, J. F., Adkins, D., Shenoy, S. (2009). Early outcomes after allogeneic hematopoietic SCT in pediatric patients with hematologic malignancies following single fraction TBI. Bone Marrow Transplant, 43 (4), 307-14. [doi: 10.1038/bmt.2008.327] [PMCID: PMC2792985]

4. Litman, T., Druley, T. E., Stein, W. D., Bates, S. E. (2001). From MDR to MXR: new understanding of multidrug resistance systems, their properties and clinical significance. Cell Mol Life Sci, 58 (7), 931-59 [full text] [PMID: 11497241]

3. Druley, T. E., Stein, W. D., Ruth, A., Roninson, I. B. (2001). P-glycoprotein-mediated colchicine resistance in different cell lines correlates with the effects of colchicine on P-glycoprotein conformation. Biochemistry, 40 (14), 4323-31 [doi: 10.1021/bi001372n] [PMID: 11284688]

2. Druley, T. E., Stein, W. D., Roninson, I. B. (2001). Analysis of MDR1 P-glycoprotein conformational changes in permeabilized cells using differential immunoreactivity. Biochemistry, 40 (14), 4312-22 [doi: 10.1021/bi001371v] [PMID: 11284687]

1. Mechetner, E. B., Schott, B., Morse, B. S., Stein, W. D., Druley, T., Davis, K. A., Tsuruo, T., Roninson, I. B. (1997). P-glycoprotein function involves conformational transitions detectable by differential immunoreactivity. Proc Natl Acad Sci U S A, 94 (24), 12908-13. [full text] [PMCID: PMC24237]

*denotes equal contibution

Invited Publications

2. Druley, T.E. (2016). The relative contributions of germline variation, epimutation, and somatic mutation to paediatric leukaemia predisposition. EMJ Hematol, 4 (1), 110-6. [full text]

1. Druley, T. E. (2013). Commentary on Dyskeratosis Congenita. Clin Chem, 59 (1), 50-1 [doi: 10.1373/clinchem.2012.192310] [PMID: 23284014]


11. Wing H. Wong, Spencer Tong, Todd Druley. Error-Corrected Sequencing of Cord Bloods Identifies Pediatric AML-Associated Clonal Hematopoiesis. American Society of Hematology, Atlanta, GA USA, 2017. [abstract]

10. Andrew L. Young, Spencer Tong, Tianyi Huang, Brenda M Birmann, Todd E. Druley. Utility of Detecting Rare Clonal Hematopoiesis for Predicting Leukemic Transformation in Healthy Individuals. American Society of Hematology, Atlanta, GA USA, 2017. [abstract]

9. R. Spencer Tong, Andrew L. Young, Wing H. Wong, Johann Hitzler, Jason N. Berman, Todd E. Druley. Detection of Minimal Residual Disease in Down Syndrome-AML by Error-Corrected Sequencing: A Children’s Oncology Group Study. International Society of Paediatric Oncology, Washington, D.C. USA, 2017. [abstract]

8. Erin L. Crowgey, Nitin Mahajan, Wing H. Wong, Edward A. Kolb, Todd E. Druley. Sensitive and Specific DNA and RNA Sequencing Techniques for Detecting Minimal Residual Disease. American Association for Cancer Research, Washington, D.C. USA, 2017. [abstract]

7. Todd E. Druley, Mark C. Valentine, Emily Jen, Jeffrey C. Magee, Christopher M. Sturgeon. Germline Variants in MLL3 in Infantile Leukemia Skew Myeloid Hematopoietic Differentiation. International Society of Paediatric Oncology, Dublin, Ireland, 2016. [abstract

6. Todd E. Druley, Andrew L Young. Tracking Residual Disease and Subclonal Heterogeneity in Paediatric AML using Extremely Sensitive Error Corrected Sequencing. International Society of Paediatric Oncology, Dublin, Ireland, 2016. [abstract

5. Andrew L. Young, Terrence N. Wong, Timothy J. Ley, Daniel C. Link, Todd E. Druley. Rare hematopoietic subclones harboring leukemogenic TP53 mutations are detectable via error-corrected sequencing in healthy elderly individuals. American Society of Hematology, San Francisco, CA USA, 2014. [abstract]

4. Mark C. Valentine; Elizabeth L. Ostrander; Amy M. Linabery, PhD; Logan G. Spector, PhD; Julie A. Ross, PhD*; Todd E. Druley MD, PhD* Infants with leukemia exhibit compound heterozygosity for deleterious germline variation in MLL3 independent of MLL-rearrangements. American Society of Hematology, San Francisco, CA USA, 2014. [abstract]

3. Mark Valentine; Amy M. Linabery, PhD; Logan G. Spector, PhD; Julie A. Ross, PhD*; Todd E. Druley MD, PhD* Germline Exome Sequencing From MLL-Negative Infant AML Patients Reveals Compound Heterozygosity For Novel, Non-Synonymous Alleles Of MLL3: A Report From The Children’s Oncology Group . American Society of Hematology, New Orleans, LA USA, 2013. [abstract]

2. Todd E. Druley, Mark Valentine, Nicholas Sanchez, Julie A. Ross. Matched exome sequencing in mothers and infants with MLL-negative acute leukemia. American Society of Hematology Annual Meeting, Atlanta, GA, 2012. [abstract]

1. Andrew Hughes, Joseph Giacalone, Todd E. Druley. Characterizing rare variants in drug metabolism genes in refractory pediatric high-risk pre-B ALL. American Society of Hematology Annual Meeting, Atlanta, GA, 2012. [abstract]

*denotes equal contribution