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Items: 41

1.

NF1 glioblastoma clonal profiling reveals KMT2B mutations as potential somatic oncogenic events.

Wong WH, Junck L, Druley TE, Gutmann DH.

Neurology. 2019 Dec 10;93(24):1067-1069. doi: 10.1212/WNL.0000000000008623. Epub 2019 Nov 5. No abstract available.

PMID:
31690684
2.

Novel mutation in AIRE gene with autoimmune polyendocrine syndrome type 1.

Fardi Golyan F, Ghaemi N, Abbaszadegan MR, Dehghan Manshadi SH, Vakili R, Druley TE, Rahimi HR, Ghahraman M.

Immunobiology. 2019 Nov;224(6):728-733. doi: 10.1016/j.imbio.2019.09.004. Epub 2019 Sep 6.

PMID:
31526676
3.

Whole-exome sequencing of familial esophageal squamous cell carcinoma identified rare pathogenic variants in new predisposition genes.

Golyan FF, Druley TE, Abbaszadegan MR.

Clin Transl Oncol. 2019 Jul 18. doi: 10.1007/s12094-019-02174-z. [Epub ahead of print]

PMID:
31321674
4.

Clonal hematopoiesis and risk of acute myeloid leukemia.

Young AL, Tong RS, Birmann BM, Druley TE.

Haematologica. 2019 Dec;104(12):2410-2417. doi: 10.3324/haematol.2018.215269. Epub 2019 Apr 19.

5.

Distal chromosome 16p11.2 duplications containing SH2B1 in patients with scoliosis.

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.

J Med Genet. 2019 Jul;56(7):427-433. doi: 10.1136/jmedgenet-2018-105877. Epub 2019 Feb 25.

6.

Age-specific changes in genome-wide methylation enrich for Foxa2 and estrogen receptor alpha binding sites.

Uli N, Michelen-Gomez E, Ramos EI, Druley TE.

PLoS One. 2018 Sep 26;13(9):e0203147. doi: 10.1371/journal.pone.0203147. eCollection 2018.

7.

Rare Event Detection Using Error-corrected DNA and RNA Sequencing.

Wong WH, Tong RS, Young AL, Druley TE.

J Vis Exp. 2018 Aug 3;(138). doi: 10.3791/57509.

8.

Special Therapy and Psychosocial Needs Identified in a Multidisciplinary Cancer Predisposition Syndrome Clinic.

Groves AP, Gettinger K, Druley TE, Kozel BA, Shinawi M, Mohrmann C, Henry J, Jacobi C, Trinkaus K, Hayashi RJ.

J Pediatr Hematol Oncol. 2019 Mar;41(2):133-136. doi: 10.1097/MPH.0000000000001251.

PMID:
30028825
9.

Parental Age and Risk of Infant Leukaemia: A Pooled Analysis.

Marcotte EL, Druley TE, Johnson KJ, Richardson M, von Behren J, Mueller BA, Carozza S, McLaughlin C, Chow EJ, Reynolds P, Spector LG.

Paediatr Perinat Epidemiol. 2017 Nov;31(6):563-572. doi: 10.1111/ppe.12412. Epub 2017 Sep 22.

10.

Congenital neurodevelopmental anomalies in pediatric and young adult cancer.

Wong-Siegel JR, Johnson KJ, Gettinger K, Cousins N, McAmis N, Zamarione A, Druley TE.

Am J Med Genet A. 2017 Oct;173(10):2670-2679. doi: 10.1002/ajmg.a.38387. Epub 2017 Aug 29.

11.

Pediatric cancer risk in association with birth defects: A systematic review.

Johnson KJ, Lee JM, Ahsan K, Padda H, Feng Q, Partap S, Fowler SA, Druley TE.

PLoS One. 2017 Jul 27;12(7):e0181246. doi: 10.1371/journal.pone.0181246. eCollection 2017. Review.

12.

Surveillance Recommendations for Children with Overgrowth Syndromes and Predisposition to Wilms Tumors and Hepatoblastoma.

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.

Clin Cancer Res. 2017 Jul 1;23(13):e115-e122. doi: 10.1158/1078-0432.CCR-17-0710. Review.

13.

Recommendations for Surveillance for Children with Leukemia-Predisposing Conditions.

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.

Clin Cancer Res. 2017 Jun 1;23(11):e14-e22. doi: 10.1158/1078-0432.CCR-17-0428. Review.

14.

Human definitive hematopoietic specification from pluripotent stem cells is regulated by mesodermal expression of CDX4.

Creamer JP, Dege C, Ren Q, Ho JTK, Valentine MC, Druley TE, Sturgeon CM.

Blood. 2017 Jun 1;129(22):2988-2992. doi: 10.1182/blood-2016-11-749382. Epub 2017 Apr 13.

15.

Dnmt3a regulates T-cell development and suppresses T-ALL transformation.

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.

Leukemia. 2017 Nov;31(11):2479-2490. doi: 10.1038/leu.2017.89. Epub 2017 Mar 21.

16.

Clonal haematopoiesis harbouring AML-associated mutations is ubiquitous in healthy adults.

Young AL, Challen GA, Birmann BM, Druley TE.

Nat Commun. 2016 Aug 22;7:12484. doi: 10.1038/ncomms12484.

17.

Candidate gene resequencing to identify rare, pedigree-specific variants influencing healthy aging phenotypes in the long life family study.

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.

BMC Geriatr. 2016 Apr 9;16:80. doi: 10.1186/s12877-016-0253-y.

18.

Pooled Sequencing of Candidate Genes Implicates Rare Variants in the Development of Asthma Following Severe RSV Bronchiolitis in Infancy.

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.

PLoS One. 2015 Nov 20;10(11):e0142649. doi: 10.1371/journal.pone.0142649. eCollection 2015.

19.

Adaptation of the targeted capture Methyl-Seq platform for the mouse genome identifies novel tissue-specific DNA methylation patterns of genes involved in neurodevelopment.

Hing B, Ramos E, Braun P, McKane M, Jancic D, Tamashiro KL, Lee RS, Michaelson JJ, Druley TE, Potash JB.

Epigenetics. 2015;10(7):581-96. doi: 10.1080/15592294.2015.1045179.

20.

Quantifying ultra-rare pre-leukemic clones via targeted error-corrected sequencing.

Young AL, Wong TN, Hughes AE, Heath SE, Ley TJ, Link DC, Druley TE.

Leukemia. 2015 Jul;29(7):1608-11. doi: 10.1038/leu.2015.17. Epub 2015 Feb 3. No abstract available.

21.

The cyclic AMP pathway is a sex-specific modifier of glioma risk in type I neurofibromatosis patients.

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.

Cancer Res. 2015 Jan 1;75(1):16-21. doi: 10.1158/0008-5472.CAN-14-1891. Epub 2014 Nov 7.

22.

Late toxicity of a novel allogeneic stem cell transplant using single fraction total body irradiation for hematologic malignancies in children.

Madden LM, Ngwube AI, Shenoy S, Druley TE, Hayashi RJ.

J Pediatr Hematol Oncol. 2015 Mar;37(2):e94-e101. doi: 10.1097/MPH.0000000000000272.

23.

Multiplexed direct genomic selection (MDiGS): a pooled BAC capture approach for highly accurate CNV and SNP/INDEL detection.

Alvarado DM, Yang P, Druley TE, Lovett M, Gurnett CA.

Nucleic Acids Res. 2014 Jun;42(10):e82. doi: 10.1093/nar/gku218. Epub 2014 Mar 20.

24.

Synonymous ABCA3 variants do not increase risk for neonatal respiratory distress syndrome.

Wambach JA, Wegner DJ, Heins HB, Druley TE, Mitra RD, Hamvas A, Cole FS.

J Pediatr. 2014 Jun;164(6):1316-21.e3. doi: 10.1016/j.jpeds.2014.02.021. Epub 2014 Mar 20.

25.

Integrated analysis of germline and somatic variants in ovarian cancer.

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.

Nat Commun. 2014;5:3156. doi: 10.1038/ncomms4156.

26.

Excess congenital non-synonymous variation in leukemia-associated genes in MLL- infant leukemia: a Children's Oncology Group report.

Valentine MC, Linabery AM, Chasnoff S, Hughes AE, Mallaney C, Sanchez N, Giacalone J, Heerema NA, Hilden JM, Spector LG, Ross JA, Druley TE.

Leukemia. 2014 Jun;28(6):1235-41. doi: 10.1038/leu.2013.367. Epub 2013 Dec 4.

27.

Genetic variation in MKL2 and decreased downstream PCTAIRE1 expression in extreme, fatal primary human microcephaly.

Ramos EI, Bien-Willner GA, Li J, Hughes AE, Giacalone J, Chasnoff S, Kulkarni S, Parmacek M, Cole FS, Druley TE.

Clin Genet. 2014 May;85(5):423-32. doi: 10.1111/cge.12197. Epub 2013 Jun 18.

28.

Commentary.

Druley TE.

Clin Chem. 2013 Jan;59(1):50-1. doi: 10.1373/clinchem.2012.192310. No abstract available.

29.

Population-based rare variant detection via pooled exome or custom hybridization capture with or without individual indexing.

Ramos E, Levinson BT, Chasnoff S, Hughes A, Young AL, Thornton K, Li A, Vallania FL, Province M, Druley TE.

BMC Genomics. 2012 Dec 6;13:683. doi: 10.1186/1471-2164-13-683.

30.

Single ABCA3 mutations increase risk for neonatal respiratory distress syndrome.

Wambach JA, Wegner DJ, Depass K, Heins H, Druley TE, Mitra RD, An P, Zhang Q, Nogee LM, Cole FS, Hamvas A.

Pediatrics. 2012 Dec;130(6):e1575-82. doi: 10.1542/peds.2012-0918. Epub 2012 Nov 19.

31.

Whole-exome capture and sequencing identifies HEATR2 mutation as a cause of primary ciliary dyskinesia.

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.

Am J Hum Genet. 2012 Oct 5;91(4):685-93. doi: 10.1016/j.ajhg.2012.08.022.

32.

Detection of rare genomic variants from pooled sequencing using SPLINTER.

Vallania F, Ramos E, Cresci S, Mitra RD, Druley TE.

J Vis Exp. 2012 Jun 23;(64). pii: 3943. doi: 10.3791/3943.

33.

High-throughput discovery of rare insertions and deletions in large cohorts.

Vallania FL, Druley TE, Ramos E, Wang J, Borecki I, Province M, Mitra RD.

Genome Res. 2010 Dec;20(12):1711-8. doi: 10.1101/gr.109157.110. Epub 2010 Nov 1.

34.

Myosin binding protein C1: a novel gene for autosomal dominant distal arthrogryposis type 1.

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.

Hum Mol Genet. 2010 Apr 1;19(7):1165-73. doi: 10.1093/hmg/ddp587. Epub 2010 Jan 2.

35.

Cardiac signaling genes exhibit unexpected sequence diversity in sporadic cardiomyopathy, revealing HSPB7 polymorphisms associated with disease.

Matkovich SJ, Van Booven DJ, Hindes A, Kang MY, Druley TE, Vallania FL, Mitra RD, Reilly MP, Cappola TP, Dorn GW 2nd.

J Clin Invest. 2010 Jan;120(1):280-9. doi: 10.1172/JCI39085. Epub 2009 Dec 14.

36.

Severe ceftriaxone-induced hemolysis complicated by diffuse cerebral ischemia in a child with sickle cell disease.

Schuettpelz LG, Behrens D, Goldsmith MI, Druley TE.

J Pediatr Hematol Oncol. 2009 Nov;31(11):870-2. doi: 10.1097/MPH.0b013e3181b7eda2.

PMID:
19829151
37.

Quantification of rare allelic variants from pooled genomic DNA.

Druley TE, Vallania FL, Wegner DJ, Varley KE, Knowles OL, Bonds JA, Robison SW, Doniger SW, Hamvas A, Cole FS, Fay JC, Mitra RD.

Nat Methods. 2009 Apr;6(4):263-5. doi: 10.1038/nmeth.1307. Epub 2009 Mar 1.

38.

Early outcomes after allogeneic hematopoietic SCT in pediatric patients with hematologic malignancies following single fraction TBI.

Druley TE, Hayashi R, Mansur DB, Zhang QJ, Barnes Y, Trinkaus K, Witty S, Thomas T, Klein EE, DiPersio JF, Adkins D, Shenoy S.

Bone Marrow Transplant. 2009 Feb;43(4):307-14. doi: 10.1038/bmt.2008.327. Epub 2008 Nov 17.

39.

From MDR to MXR: new understanding of multidrug resistance systems, their properties and clinical significance.

Litman T, Druley TE, Stein WD, Bates SE.

Cell Mol Life Sci. 2001 Jun;58(7):931-59. Review.

PMID:
11497241
40.
41.

Analysis of MDR1 P-glycoprotein conformational changes in permeabilized cells using differential immunoreactivity.

Druley TE, Stein WD, Roninson IB.

Biochemistry. 2001 Apr 10;40(14):4312-22.

PMID:
11284687

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