| 1. | Carlson P, Wojczynski MK, Druley T, Lee JH, Zmuda JM, Thyagarajan B. Prevalence of clinically actionable disease variants in exceptionally long-lived families. BMC Med Genomics. 2020;13(1):61. PMID:32272925 |
| 2. | Watson CJ, Papula AL, Poon GYP, Wong WH, Young AL, Druley TE, Fisher DS, Blundell JR. The evolutionary dynamics and fitness landscape of clonal hematopoiesis. Science. 2020;367(6485):1449-1454. PMID:32217721 |
| 3. | Crowgey EL, Mahajan N, Wong WH, Gopalakrishnapillai A, Barwe SP, Kolb EA, Druley TE. Error-corrected sequencing strategies enable comprehensive detection of leukemic mutations relevant for diagnosis and minimal residual disease monitoring. BMC Med Genomics. 2020;13(1):32. PMCID:PMC7057603 PMID:32131829 |
| 4. | Barwe SP, Gopalakrisnapillai A, Mahajan N, Druley TE, Kolb EA, Crowgey EL. Strong concordance between RNA structural and single nucleotide variants identified via next generation sequencing techniques in primary pediatric leukemia and patient-derived xenograft samples. Genomics Inform. 2020;18(1):e6. PMCID:PMC7120351 PMID:32224839 |
| 5. | 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. Engraftment of rare, pathogenic donor hematopoietic mutations in unrelated hematopoietic stem cell transplantation. Sci Transl Med. 2020;12(526). PMID:31941826 |
| 6. | Pringle ES, Wertman J, Melong N, Coombs AJ, Young AL, O'Leary D, Veinotte C, Robinson CA, Ha MN, Dellaire G, Druley TE, McCormick C, Berman JN. The Zebrafish Xenograft Platform-A Novel Tool for Modeling KSHV-Associated Diseases. Viruses. 2019;12(1). PMID:31861850 |
| 7. | Rajan V, Melong N, Wong WH, King B, Tong RS, Mahajan N, Gaston D, Lund T, Rittenberg D, Dellaire G, Campbell CJV, Druley T, Berman JN. Humanized zebrafish enhance human hematopoietic stem cell survival and promote acute myeloid leukemia clonal diversity. Haematologica. 2019. PMID:31857359 |
| 8. | Wong WH, Junck L, Druley TE, Gutmann DH. NF1 glioblastoma clonal profiling reveals KMT2B mutations as potential somatic oncogenic events. Neurology. 2019. PMID:31690684 |
| 9. | Fardi Golyan F, Ghaemi N, Abbaszadegan MR, Dehghan Manshadi SH, Vakili R, Druley TE, Rahimi HR, Ghahraman M. Novel mutation in AIRE gene with autoimmune polyendocrine syndrome type 1. Immunobiology. 2019. PMID:31526676 |
| 10. | Camet ML, Hayashi SS, Druley T, Henry J, Gettinger K, Stacy A, Hayashi RJ. Scope of hearing loss in Beckwith-Wiedemann syndrome and hemihypertrophy. Am J Med Genet A. 2019. PMID:31339626 |
| 11. | Golyan FF, Druley TE, Abbaszadegan MR. Whole-exome sequencing of familial esophageal squamous cell carcinoma identified rare pathogenic variants in new predisposition genes. Clin Transl Oncol. 2019. PMID:31321674 |
| 12. | Young AL, Tong RS, Birmann BM, Druley TE. Clonal haematopoiesis and risk of acute myeloid leukemia. Haematologica. 2019. PMID:31004019 |
| 13. | Sadler B, Haller G, Antunes L, Bledsoe X, Morcuende J, Giampietro P, Raggio C, Miller N, Kidane Y, Wise CA, Amarillo I, Walton N, Seeley M, Johnson D, Jenkins C, Jenkins T, Oetjens M, Tong RS, Druley TE, Dobbs MB, Gurnett CA. Distal chromosome 16p11.2 duplications containing SH2B1 in patients with scoliosis. J Med Genet. 2019. PMID:30803986 |
| 14. | Uli N, Michelen-Gomez E, Ramos EI, Druley TE. Age-specific changes in genome-wide methylation enrich for Foxa2 and estrogen receptor alpha binding sites. PLoS One. 2018;13(9):e0203147. PMCID:PMC6157835 PMID:30256791 |
| 15. | Wong WH, Tong RS, Young AL, Druley TE. Rare Event Detection Using Error-corrected DNA and RNA Sequencing. J Vis Exp. 2018;(138). PMID:30124656 |
| 16. | Groves AP, Gettinger K, Druley TE, A Kozel B, Shinawi M, Mohrmann C, Henry J, Jacobi C, Trinkaus K, Hayashi RJ. Special Therapy and Psychosocial Needs Identified in a Multidisciplinary Cancer Predisposition Syndrome Clinic. J Pediatr Hematol Oncol. 2018. PMID:30028825 |
| 17. | Azar C, Valentine M, Trausch-Azar J, Druley T, Nelson DM, Schwartz AL. RNA-Seq identifies genes whose proteins are transformative in the differentiation of cytotrophoblast to syncytiotrophoblast, in human primary villous and BeWo trophoblasts. Sci Rep. 2018;8(1):5142. PMCID:PMC5865118 PMID:29572450 |
| 18. | Marcotte EL, Druley TE, Johnson KJ, Richardson M, von Behren J, Mueller BA, Carozza S, McLaughlin C, Chow EJ, Reynolds P, Spector LG. Parental Age and Risk of Infant Leukaemia: A Pooled Analysis. Paediatr Perinat Epidemiol. 2017. PMID:28940632 |
| 19. | Wong-Siegel JR, Johnson KJ, Gettinger K, Cousins N, McAmis N, Zamarione A, Druley TE. Congenital neurodevelopmental anomalies in pediatric and young adult cancer. Am J Med Genet A. 2017. PMID:28851129 |
| 20. | Johnson KJ, Lee JM, Ahsan K, Padda H, Feng Q, Partap S, Fowler SA, Druley TE. Pediatric cancer risk in association with birth defects: A systematic review. PLoS One. 2017;12(7):e0181246. PMID:28749971 |
| 21. | 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. Surveillance Recommendations for Children with Overgrowth Syndromes and Predisposition to Wilms Tumors and Hepatoblastoma. Clin Cancer Res. 2017;23(13):e115-e122. PMCID:PMC5538793 PMID:28674120 |
| 22. | 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. Recommendations for Surveillance for Children with Leukemia-Predisposing Conditions. Clin Cancer Res. 2017;23(11):e14-e22. PMID:28572263 |
| 23. | Kalish JM, Biesecker LG, Brioude F, Deardorff MA, Di Cesare-Merlone A, Druley T, Ferrero GB, Lapunzina P, Larizza L, Maas S, Macchiaiolo M, Maher ER, Maitz S, Martinez-Agosto JA, Mussa A, Robinson P, Russo S, Selicorni A, Hennekam RC. Nomenclature and definition in asymmetric regional body overgrowth. Am J Med Genet A. 2017. PMID:28475229 |
| 24. | Creamer JP, Dege C, Ren Q, Ho JT, Valentine MC, Druley TE, Sturgeon CM. Human definitive hematopoietic specification from pluripotent stem cells is regulated by mesodermal expression of CDX4. Blood. 2017. PMID:28408465 |
| 25. | 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. Dnmt3a regulates T-cell development and suppresses T-ALL transformation. Leukemia. 2017. PMID:28321121 |
| 26. | Young AL, Challen GA, Birmann BM, Druley TE. Clonal haematopoiesis harbouring AML-associated mutations is ubiquitous in healthy adults. Nat Commun. 2016;7:12484. PMCID:PMC4996934 PMID:27546487 |
| 27. | Druley, TE. The relative contributions of germline variation, epimutation, and somatic mutation to paediatric leukemia predisposition. EMJ Hematol. 2016;4(1):110-116. |
| 28. | Druley TE, Wang L, Lin SJ, Lee JH, Zhang Q, Daw EW, Abel HJ, Chasnoff SE, Ramos EI, Levinson BT, Thyagarajan B, Newman AB, Christensen K, Mayeux R, Province MA. Candidate gene resequencing to identify rare, pedigree-specific variants influencing healthy aging phenotypes in the long life family study. BMC Geriatr. 2016;16(1):80. doi:10.1186/s12877-016-0253-y PMID:27060904 |
| 29. | Torgerson DG, Giri T, Druley TE, Zheng J, Huntsman S, Seibold MA, Young AL, Schweiger T, Yin-Declue H, Sajol GD, Schechtman KB, Hernandez RD, Randolph AG, Bacharier LB, Castro M. Pooled Sequencing of Candidate Genes Implicates Rare Variants in the Development of Asthma Following Severe RSV Bronchiolitis in Infancy. PLoS One. 2015;10(11):e0142649. PMCID:PMC4654486 PMID:26587832 |
| 30. | Hing B, Ramos E, Braun P, McKane M, Jancic D, Tamashiro KL, Lee RS, Michaelson JJ, Druley TE, Potash JB. 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. 2015;10(7):581-96. doi:10.1080/15592294.2015.1045179. PMCID:PMC4622595 PMID:25985232 |
| 31. | Madden LM, Ngwube AI, Shenoy S, Druley TE, Hayashi RJ. 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;37(2):e94-e101. doi:10.1097/MPH.0000000000000272 PMCID:PMC4337424 PMID:25333837 |
| 32. | Wong TN, Ramsingh G, Young AL, Miller CA, Touma W, Welch JS, Lamprecht TL, Shen D, Hundal J, Fulton RS, Heath S, Baty JD, Klco JM, Ding L, Mardis ER, Westervelt P, DiPersio JF, Walter MJ, Graubert TA, Ley TJ, Druley TE, Link DC, Wilson RK. Role of TP53 mutations in the origin and evolution of therapy-related acute myeloid leukaemia. Nature. 2015;518(7540):552-5. doi:10.1038/nature13968 PMCID:PMC4403236 PMID:25487151 |
| 33. | Young AL, Wong TN, Hughes AE, Heath SE, Ley TJ, Link DC, Druley TE. Quantifying ultra-rare pre-leukemic clones via targeted error-corrected sequencing. Leukemia. 2015. doi:10.1038/leu.2015.17 PMID:25644247 |
| 34. | Warrington NM, Sun T, Luo J, McKinstry RC, Parkin PC, Ganzhorn S, Spoljaric D, Albers AC, Merkelson A, Stewart DR, Stevenson DA, Viskochil D, Druley TE, Forys JT, Reilly KM, Fisher MJ, Tabori U, Allen JC, Schiffman JD, Gutmann DH, Rubin JB. The cyclic AMP pathway is a sex-specific modifier of glioma risk in type I neurofibromatosis patients. Cancer Res. 2015;75(1):16-21. doi:10.1158/0008-5472.CAN-14-1891 PMCID:PMC4286430 PMID:25381154 |
| 35. | Valentine MC, Linabery AM, Chasnoff S, Hughes AE, Mallaney C, Sanchez N, Giacalone J, Heerema NA, Hilden JM, Spector LG, Ross JA, Druley TE. Excess congenital non-synonymous variation in leukemia-associated genes in MLL- infant leukemia: a Children's Oncology Group report. Leukemia. 2014;28(6):1235-41. doi:10.1038/leu.2013.367 PMCID:PMC4045651 PMID:24301523 |
| 36. | Wambach JA, Wegner DJ, Heins HB, Druley TE, Mitra RD, Hamvas A, Cole FS. Synonymous ABCA3 variants do not increase risk for neonatal respiratory distress syndrome. J Pediatr. 2014;164(6):1316-21.e3. doi:10.1016/j.jpeds.2014.02.021 PMCID:PMC4035386 PMID:24657120 |
| 37. | Ramos EI, Bien-Willner GA, Li J, Hughes AE, Giacalone J, Chasnoff S, Kulkarni S, Parmacek M, Cole FS, Druley TE. Genetic variation in MKL2 and decreased downstream PCTAIRE1 expression in extreme, fatal primary human microcephaly. Clin Genet. 2014;85(5):423-32. doi:10.1111/cge.12197 PMCID:PMC3929543 PMID:23692340 |
| 38. | Kanchi KL, Johnson KJ, Lu C, McLellan MD, Leiserson MD, Wendl MC, Zhang Q, Koboldt DC, Xie M, Kandoth C, McMichael JF, Wyczalkowski MA, Larson DE, Schmidt HK, Miller CA, Fulton RS, Spellman PT, Mardis ER, Druley TE, Graubert TA, Goodfellow PJ, Raphael BJ, Wilson RK, Ding L. Integrated analysis of germline and somatic variants in ovarian cancer. Nat Commun. 2014;5:3156. doi:10.1038/ncomms4156 PMCID:PMC4025965 PMID:24448499 |
| 39. | Alvarado DM, Yang P, Druley TE, Lovett M, Gurnett CA. Multiplexed direct genomic selection (MDiGS): a pooled BAC capture approach for highly accurate CNV and SNP/INDEL detection. Nucleic Acids Res. 2014;42(10):e82. doi:10.1093/nar/gku218 PMCID:PMC4041413 PMID:24682816 |
| 40. | Druley TE. Commentary. Clin Chem. 2013;59(1):50-1. PMID:23284014 |
| 41. | Lee JH, Cheng R, Honig LS, Feitosa M, Kammerer CM, Kang MS, Schupf N, Lin SJ, Sanders JL, Bae H, Druley T, Perls T, Christensen K, Province M, Mayeux R. 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. 2013;4:310. doi:10.3389/fgene.2013.00310 PMCID:PMC3894567 PMID:24478790 |
| 42. | Ramos E, Levinson BT, Chasnoff S, Hughes A, Young AL, Thornton K, Li A, Vallania FL, Province M, Druley TE. Population-based rare variant detection via pooled exome or custom hybridization capture with or without individual indexing. BMC Genomics. 2012;13:683. doi:10.1186/1471-2164-13-683 PMCID:PMC3534616 PMID:23216810 |
| 43. | Wambach JA, Wegner DJ, Depass K, Heins H, Druley TE, Mitra RD, An P, Zhang Q, Nogee LM, Cole FS, Hamvas A. Single ABCA3 mutations increase risk for neonatal respiratory distress syndrome. Pediatrics. 2012;130(6):e1575-82. doi:10.1542/peds.2012-0918 PMCID:PMC3507255 PMID:23166334 |
| 44. | Chatterjee R, Ramos E, Hoffman M, VanWinkle J, Martin DR, Davis TK, Hoshi M, Hmiel SP, Beck A, Hruska K, Coplen D, Liapis H, Mitra R, Druley T, Austin P, Jain S. 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. 2012;131(11):1725-38. doi:10.1007/s00439-012-1181-3 PMCID:PMC3551468 PMID:22729463 |
| 45. | Horani A, Druley TE, Zariwala MA, Patel AC, Levinson BT, Van Arendonk LG, Thornton KC, Giacalone JC, Albee AJ, Wilson KS, Turner EH, Nickerson DA, Shendure J, Bayly PV, Leigh MW, Knowles MR, Brody SL, Dutcher SK, Ferkol TW. Whole-exome capture and sequencing identifies HEATR2 mutation as a cause of primary ciliary dyskinesia. Am J Hum Genet. 2012;91(4):685-93. doi:10.1016/j.ajhg.2012.08.022 PMCID:PMC3484505 PMID:23040496 |
| 46. | Vallania F, Ramos E, Cresci S, Mitra RD, Druley TE. Detection of rare genomic variants from pooled sequencing using SPLINTER. J Vis Exp. 2012;(64). doi:10.3791/3943 PMCID:PMC3471313 PMID:22760212 |
| 47. | Haller G, Druley T, Vallania FL, Mitra RD, Li P, Akk G, Steinbach JH, Breslau N, Johnson E, Hatsukami D, Stitzel J, Bierut LJ, Goate AM. Rare missense variants in CHRNB4 are associated with reduced risk of nicotine dependence. Hum Mol Genet. 2012;21(3):647-55. doi:10.1093/hmg/ddr498 PMCID:PMC3259016 PMID:22042774 |
| 48. | Vallania FL, Druley TE, Ramos E, Wang J, Borecki I, Province M, Mitra RD. High-throughput discovery of rare insertions and deletions in large cohorts. Genome Res. 2010;20(12):1711-8. doi:10.1101/gr.109157.110 PMCID:PMC2989997 PMID:21041413 |
| 49. | Ziga ED, Druley T, Burnham CA. Herbaspirillum species bacteremia in a pediatric oncology patient. J Clin Microbiol. 2010;48(11):4320-1. doi:10.1128/JCM.01479-10 PMCID:PMC3020882 PMID:20739483 |
| 50. | Gurnett CA, Desruisseau DM, McCall K, Choi R, Meyer ZI, Talerico M, Miller SE, Ju JS, Pestronk A, Connolly AM, Druley TE, Weihl CC, Dobbs MB. Myosin binding protein C1: a novel gene for autosomal dominant distal arthrogryposis type 1. Hum Mol Genet. 2010;19(7):1165-73. doi:10.1093/hmg/ddp587 PMCID:PMC2838534 PMID:20045868 |
| 51. | Matkovich SJ, Van Booven DJ, Hindes A, Kang MY, Druley TE, Vallania FL, Mitra RD, Reilly MP, Cappola TP, Dorn GW 2nd. Cardiac signaling genes exhibit unexpected sequence diversity in sporadic cardiomyopathy, revealing HSPB7 polymorphisms associated with disease. J Clin Invest. 2010;120(1):280-9. doi:10.1172/JCI39085 PMCID:PMC2798680 PMID:20038796 |
| 52. | Schuettpelz LG, Behrens D, Goldsmith MI, Druley TE. Severe ceftriaxone-induced hemolysis complicated by diffuse cerebral ischemia in a child with sickle cell disease. J Pediatr Hematol Oncol. 2009;31(11):870-2. doi:10.1097/MPH.0b013e3181b7eda2 PMID:19829151 |
| 53. | Druley TE, Vallania FL, Wegner DJ, Varley KE, Knowles OL, Bonds JA, Robison SW, Doniger SW, Hamvas A, Cole FS, Fay JC, Mitra RD. Quantification of rare allelic variants from pooled genomic DNA. Nat Methods. 2009;6(4):263-5. doi:10.1038/nmeth.1307 PMCID:PMC2776647 PMID:19252504 |
| 54. | Druley TE, Hayashi R, Mansur DB, Zhang QJ, Barnes Y, Trinkaus K, Witty S, Thomas T, Klein EE, DiPersio JF, Adkins D, Shenoy S. Early outcomes after allogeneic hematopoietic SCT in pediatric patients with hematologic malignancies following single fraction TBI. Bone Marrow Transplant. 2009;43(4):307-14. doi:10.1038/bmt.2008.327 PMCID:PMC2792985 PMID:19011666 |
| 55. | Litman T, Druley TE, Stein WD, Bates SE. From MDR to MXR: new understanding of multidrug resistance systems, their properties and clinical significance. Cell Mol Life Sci. 2001;58(7):931-59. doi:10.1007/PL00000912 PMID:11497241 |
| 56. | Druley TE, Stein WD, Roninson IB. Analysis of MDR1 P-glycoprotein conformational changes in permeabilized cells using differential immunoreactivity. Biochemistry. 2001;40(14):4312-22. PMID:11284687 |
| 57. | Druley TE, Stein WD, Ruth A, Roninson IB. P-glycoprotein-mediated colchicine resistance in different cell lines correlates with the effects of colchicine on P-glycoprotein conformation. Biochemistry. 2001;40(14):4323-31. PMID:11284688 |
| 58. | Mechetner EB, Schott B, Morse BS, Stein WD, Druley T, Davis KA, Tsuruo T, Roninson IB. P-glycoprotein function involves conformational transitions detectable by differential immunoreactivity. Proc Natl Acad Sci U S A. 1997;94(24):12908-13. PMCID:PMC24237 PMID:9371774 |