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Characterization of a cryptic PML-RARA fusion by mate-pair sequencing in a case of acute promyelocytic leukemia with a normal karyotype and negative RARA FISH studies.

Schultz MJ, Blackburn PR, Cogbill CH, Pitel BA, Smadbeck JB, Johnson SH, Vasmatzis G, Rech KL, Sukov WR, Greipp PT, Hoppman NL, Baughn LB, Ketterling RP, Peterson JF.

Leuk Lymphoma. 2019 Dec 6:1-4. doi: 10.1080/10428194.2019.1699081. [Epub ahead of print] No abstract available.


B-cell acute lymphoblastic leukemia in an elderly man with plasma cell myeloma and long-term exposure to thalidomide and lenalidomide: a case report and literature review.

Sinit RB, Hwang DG, Vishnu P, Peterson JF, Aboulafia DM.

BMC Cancer. 2019 Nov 27;19(1):1147. doi: 10.1186/s12885-019-6286-9.


Molecular and phenotypic characterization of an early T-cell precursor acute lymphoblastic lymphoma harboring PICALM-MLLT10 fusion with aberrant expression of B-cell antigens.

Khurana S, Melody ME, Ketterling RP, Peterson JF, Luoma IM, Vazmatzis G, Tun HW, Foran JM, Jiang L.

Cancer Genet. 2019 Nov 9;240:40-44. doi: 10.1016/j.cancergen.2019.11.002. [Epub ahead of print]


Acute Myeloid Leukemia in an Infant with t(8;19)(p11.2;q13) Translocation: Case Report and a Review of the Literature.

Eason AC, Bunting ST, Peterson JF, Saxe D, Sabnis HS.

Case Rep Hematol. 2019 Sep 8;2019:4198415. doi: 10.1155/2019/4198415. eCollection 2019.


Characterization of TCF3 rearrangements in pediatric B-lymphoblastic leukemia/lymphoma by mate-pair sequencing (MPseq) identifies complex genomic rearrangements and a novel TCF3/TEF gene fusion.

Rowsey RA, Smoley SA, Williamson CM, Vasmatzis G, Smadbeck JB, Ning Y, Greipp PT, Hoppman NL, Baughn LB, Ketterling RP, Peterson JF.

Blood Cancer J. 2019 Oct 1;9(10):81. doi: 10.1038/s41408-019-0239-z.


Fluorescence In Situ Hybridization for TP63 Rearrangements in T-cell Lymphomas: Single Site Experience of 470 Patients and Implications for Clinical Testing.

Peterson JF, Pearce KE, Meyer RG, Greipp PT, Knudson RA, Baughn LB, Ketterling RP, Feldman AL.

Histopathology. 2019 Sep 26. doi: 10.1111/his.14005. [Epub ahead of print]


A Decision-Theoretic Approach to Panel-Based, Preemptive Genotyping.

Shi Y, Graves JA, Garbett SP, Zhou Z, Marathi R, Wang X, Harrell FE, Lasko TA, Denny JC, Roden DM, Peterson JF, Schildcrout JS.

MDM Policy Pract. 2019 Aug 17;4(2):2381468319864337. doi: 10.1177/2381468319864337. eCollection 2019 Jul-Dec.


Characterization of a rarely reported STAT5B/RARA gene fusion in a young adult with newly diagnosed acute promyelocytic leukemia with resistance to ATRA therapy.

Peterson JF, He RR, Nayer H, Cuevo RS, Smadbeck JB, Vasmatzis G, Greipp PT, Ketterling RP, Hoppman NL, Baughn LB.

Cancer Genet. 2019 Sep;237:51-54. doi: 10.1016/j.cancergen.2019.06.007. Epub 2019 Jun 12.


Building evidence and measuring clinical outcomes for genomic medicine.

Peterson JF, Roden DM, Orlando LA, Ramirez AH, Mensah GA, Williams MS.

Lancet. 2019 Aug 17;394(10198):604-610. doi: 10.1016/S0140-6736(19)31278-4. Epub 2019 Aug 5. Review.


Genomic medicine for undiagnosed diseases.

Wise AL, Manolio TA, Mensah GA, Peterson JF, Roden DM, Tamburro C, Williams MS, Green ED.

Lancet. 2019 Aug 10;394(10197):533-540. doi: 10.1016/S0140-6736(19)31274-7. Epub 2019 Aug 5. Review.



Roden DM, McLeod HL, Relling MV, Williams MS, Mensah GA, Peterson JF, Van Driest SL.

Lancet. 2019 Aug 10;394(10197):521-532. doi: 10.1016/S0140-6736(19)31276-0. Epub 2019 Aug 5. Review.


Current practices in the delivery of pharmacogenomics: Impact of the recommendations of the Pharmacy Practice Model Summit.

Valgus J, Weitzel KW, Peterson JF, Crona DJ, Formea CM.

Am J Health Syst Pharm. 2019 Apr 8;76(8):521-529. doi: 10.1093/ajhp/zxz024.


Whole Genome Mate-pair Sequencing of Plasma Cell Neoplasm as a Novel Diagnostic Strategy: A Case of Unrecognized t(2;11) Structural Variation.

Peterson JF, Meyer RG, Smoley SA, Webley M, Smadbeck JB, Vasmatzis G, Pearce K, Greipp PT, Ketterling RP, Craig FE, Stewart AK, Baughn LB.

Clin Lymphoma Myeloma Leuk. 2019 Sep;19(9):598-602. doi: 10.1016/j.clml.2019.06.006. Epub 2019 Jun 18. No abstract available.


Identification of a Novel ZBTB20-JAK2 Fusion by Mate-Pair Sequencing in a Young Adult With B-Lymphoblastic Leukemia/Lymphoma.

Peterson JF, Blackburn PR, Webley MR, Pearce KE, Williamson CM, Vasmatzis G, Smadbeck JB, Bieliauskas SL, Reichard KK, Ketterling RP, Baughn LB, Greipp PT.

Mayo Clin Proc. 2019 Jul;94(7):1381-1384. doi: 10.1016/j.mayocp.2019.04.030. No abstract available.


Elucidating a false-negative MYC break-apart fluorescence in situ hybridization probe study by next-generation sequencing in a patient with high-grade B-cell lymphoma with IGH/MYC and IGH/BCL2 rearrangements.

Peterson JF, Pitel BA, Smoley SA, Vasmatzis G, Smadbeck JB, Greipp PT, Ketterling RP, Macon WR, Baughn LB.

Cold Spring Harb Mol Case Stud. 2019 Jun 3;5(3). pii: a004077. doi: 10.1101/mcs.a004077. Print 2019 Jun.


Characterization of a cryptic IGH/CCND1 rearrangement in a case of mantle cell lymphoma with negative CCND1 FISH studies.

Peterson JF, Baughn LB, Ketterling RP, Pitel BA, Smoley SA, Vasmatzis G, Smadbeck JB, Greipp PT, Mangaonkar AA, Thompson CA, Parikh SA, Chen D, Viswanatha DS.

Blood Adv. 2019 Apr 23;3(8):1298-1302. doi: 10.1182/bloodadvances.2019031450. No abstract available.


Detection of a cryptic NUP214/ABL1 gene fusion by mate-pair sequencing (MPseq) in a newly diagnosed case of pediatric T-lymphoblastic leukemia.

Peterson JF, Pitel BA, Smoley SA, Smadbeck JB, Johnson SH, Vasmatzis G, Koon SJ, Webley MR, McGrath M, Bayerl MG, Baughn LB, Rowsey RA, Ketterling RP, Greipp PT, Hoppman NL.

Cold Spring Harb Mol Case Stud. 2019 Apr 1;5(2). pii: a003533. doi: 10.1101/mcs.a003533. Print 2019 Apr.


Multi-site investigation of strategies for the clinical implementation of CYP2D6 genotyping to guide drug prescribing.

Cavallari LH, Van Driest SL, Prows CA, Bishop JR, Limdi NA, Pratt VM, Ramsey LB, Smith DM, Tuteja S, Duong BQ, Hicks JK, Lee JC, Obeng AO, Beitelshees AL, Bell GC, Blake K, Crona DJ, Dressler L, Gregg RA, Hines LJ, Scott SA, Shelton RC, Weitzel KW, Johnson JA, Peterson JF, Empey PE, Skaar TC; IGNITE Network.

Genet Med. 2019 Oct;21(10):2255-2263. doi: 10.1038/s41436-019-0484-3. Epub 2019 Mar 21.


MDM2 amplification and immunohistochemical expression in sarcomatoid renal cell carcinoma.

Suster D, Ronen S, Peterson JF, Mackinnon AC, Hes O, Suster S, Lin DI.

Hum Pathol. 2019 May;87:28-36. doi: 10.1016/j.humpath.2019.02.004. Epub 2019 Feb 28. French.


A near-haploid clone harboring a BCR/ABL1 gene fusion in an adult patient with newly diagnosed B-lymphoblastic leukemia.

Peterson JF, Ketterling RP, Huang L, Finn LE, Shi M, Hoppman NL, Greipp PT, Baughn LB.

Genes Chromosomes Cancer. 2019 Sep;58(9):665-668. doi: 10.1002/gcc.22744. Epub 2019 Mar 18.


Hyperhaploid plasma cell myeloma characterized by poor outcome and monosomy 17 with frequently co-occurring TP53 mutations.

Peterson JF, Rowsey RA, Marcou CA, Pearce KE, Williamson CM, Frederick LA, Greipp PT, Ketterling RP, Kumar S, Viswanatha DS, Polley MY, Fink JM, Reichard KK, Van Dyke DL, Baughn LB.

Blood Cancer J. 2019 Feb 19;9(3):20. doi: 10.1038/s41408-019-0182-z. No abstract available.


Acute leukemias harboring KMT2A/MLLT10 fusion: a 10-year experience from a single genomics laboratory.

Peterson JF, Sukov WR, Pitel BA, Smoley SA, Pearce KE, Meyer RG, Williamson CM, Smadbeck JB, Vasmatzis G, Hoppman NL, Greipp PT, Baughn LB, Ketterling RP.

Genes Chromosomes Cancer. 2019 Aug;58(8):567-577. doi: 10.1002/gcc.22741. Epub 2019 Mar 19.


Pharmacogenomic clinical decision support design and multi-site process outcomes analysis in the eMERGE Network.

Herr TM, Peterson JF, Rasmussen LV, Caraballo PJ, Peissig PL, Starren JB.

J Am Med Inform Assoc. 2019 Feb 1;26(2):143-148. doi: 10.1093/jamia/ocy156. Erratum in: J Am Med Inform Assoc. 2019 May 1;26(5):490.


False-negative rates for MYC fluorescence in situ hybridization probes in B-cell neoplasms.

King RL, McPhail ED, Meyer RG, Vasmatzis G, Pearce K, Smadbeck JB, Ketterling RP, Smoley SA, Greipp PT, Hoppman NL, Peterson JF, Baughn LB.

Haematologica. 2019 Jun;104(6):e248-e251. doi: 10.3324/haematol.2018.207290. Epub 2018 Dec 6. No abstract available.


Constitutional chromosome rearrangements that mimic the 2017 world health organization "acute myeloid leukemia with recurrent genetic abnormalities": A study of three cases and review of the literature.

Peterson JF, Pitel BA, Smoley SA, Smadbeck JB, Johnson SH, Vasmatzis G, Pearce KE, He R, Kelemen K, Al-Mondhiry HAB, Lamparella NE, Hoppman NL, Kearney HM, Baughn LB, Ketterling RP, Greipp PT.

Cancer Genet. 2019 Jan;230:37-46. doi: 10.1016/j.cancergen.2018.11.005. Epub 2018 Nov 20. Review.


The eMERGE genotype set of 83,717 subjects imputed to ~40 million variants genome wide and association with the herpes zoster medical record phenotype.

Stanaway IB, Hall TO, Rosenthal EA, Palmer M, Naranbhai V, Knevel R, Namjou-Khales B, Carroll RJ, Kiryluk K, Gordon AS, Linder J, Howell KM, Mapes BM, Lin FTJ, Joo YY, Hayes MG, Gharavi AG, Pendergrass SA, Ritchie MD, de Andrade M, Croteau-Chonka DC, Raychaudhuri S, Weiss ST, Lebo M, Amr SS, Carrell D, Larson EB, Chute CG, Rasmussen-Torvik LJ, Roy-Puckelwartz MJ, Sleiman P, Hakonarson H, Li R, Karlson EW, Peterson JF, Kullo IJ, Chisholm R, Denny JC, Jarvik GP; eMERGE Network, Crosslin DR.

Genet Epidemiol. 2019 Feb;43(1):63-81. doi: 10.1002/gepi.22167. Epub 2018 Oct 8.


Mate pair sequencing improves detection of genomic abnormalities in acute myeloid leukemia.

Aypar U, Smoley SA, Pitel BA, Pearce KE, Zenka RM, Vasmatzis G, Johnson SH, Smadbeck JB, Peterson JF, Geiersbach KB, Van Dyke DL, Thorland EC, Jenkins RB, Ketterling RP, Greipp PT, Kearney HM, Hoppman NL, Baughn LB.

Eur J Haematol. 2019 Jan;102(1):87-96. doi: 10.1111/ejh.13179. Epub 2018 Nov 22.


Use of mate-pair sequencing to characterize a complex cryptic BCR/ABL1 rearrangement observed in a newly diagnosed case of chronic myeloid leukemia.

Peterson JF, Pitel BA, Smoley SA, Smadbeck JB, Johnson SH, Vasmatzis G, Kearney HM, Greipp PT, Hoppman NL, Baughn LB, Ketterling RP.

Hum Pathol. 2019 Jul;89:109-114. doi: 10.1016/j.humpath.2018.09.010. Epub 2018 Sep 26.


KMT2A (MLL) rearrangements observed in pediatric/young adult T-lymphoblastic leukemia/lymphoma: A 10-year review from a single cytogenetic laboratory.

Peterson JF, Baughn LB, Pearce KE, Williamson CM, Benevides Demasi JC, Olson RM, Goble TA, Meyer RG, Greipp PT, Ketterling RP.

Genes Chromosomes Cancer. 2018 Nov;57(11):541-546. doi: 10.1002/gcc.22666. Epub 2018 Sep 10.


The Utilization of Chromosomal Microarray Technologies for Hematologic Neoplasms: An ACLPS Critical Review.

Peterson JF, Van Dyke DL, Hoppman NL, Kearney HM, Sukov WR, Greipp PT, Ketterling RP, Baughn LB.

Am J Clin Pathol. 2018 Oct 1;150(5):375-384. doi: 10.1093/ajcp/aqy076. Review.


Harmonizing Outcomes for Genomic Medicine: Comparison of eMERGE Outcomes to ClinGen Outcome/Intervention Pairs.

Williams JL, Chung WK, Fedotov A, Kiryluk K, Weng C, Connolly JJ, Harr M, Hakonarson H, Leppig KA, Larson EB, Jarvik GP, Veenstra DL, Hoell C, Smith ME, Holm IA, Peterson JF, Williams MS.

Healthcare (Basel). 2018 Jul 13;6(3). pii: E83. doi: 10.3390/healthcare6030083.


Empowering genomic medicine by establishing critical sequencing result data flows: the eMERGE example.

Aronson S, Babb L, Ames D, Gibbs RA, Venner E, Connelly JJ, Marsolo K, Weng C, Williams MS, Hartzler AL, Liang WH, Ralston JD, Devine EB, Murphy S, Chute CG, Caraballo PJ, Kullo IJ, Freimuth RR, Rasmussen LV, Wehbe FH, Peterson JF, Robinson JR, Wiley K, Overby Taylor C; eMERGE Network EHRI Working Group.

J Am Med Inform Assoc. 2018 Oct 1;25(10):1375-1381. doi: 10.1093/jamia/ocy051.


Opportunities and Challenges in Cardiovascular Pharmacogenomics: From Discovery to Implementation.

Roden DM, Van Driest SL, Wells QS, Mosley JD, Denny JC, Peterson JF.

Circ Res. 2018 Apr 27;122(9):1176-1190. doi: 10.1161/CIRCRESAHA.117.310965. Review.


Inheritance of a Balanced t(12;20)(q24.33;p12.2) and Unbalanced der(13)t(7;13)(p21.3;q33.2) from a Maternally Derived Double Balanced Translocation Carrier.

Peterson JF, Geddes GC, Basel DG, Schippman D, Grignon JW Jr, vanTuinen P, Kappes UP.

J Pediatr Genet. 2018 Mar;7(1):35-39. doi: 10.1055/s-0037-1605592. Epub 2017 Aug 14.


A Rare Combination of Functional Disomy Xp, Deletion Xq13.2-q28 Spanning the XIST Gene, and Duplication 3q25.33-q29 in a Female with der(X)t(X;3)(q13.2;q25.33).

Peterson JF, Basel DG, Bick DP, Chirempes B, Lorier RB, Zemlicka N, Grignon JW Jr, Weik L, Kappes U.

J Pediatr Genet. 2018 Mar;7(1):23-28. doi: 10.1055/s-0037-1604448. Epub 2017 Jul 26.


Benefit of Preemptive Pharmacogenetic Information on Clinical Outcome.

Roden DM, Van Driest SL, Mosley JD, Wells QS, Robinson JR, Denny JC, Peterson JF.

Clin Pharmacol Ther. 2018 May;103(5):787-794. doi: 10.1002/cpt.1035. Epub 2018 Mar 13. Review.


Leukemic phase and CSF involvement of diffuse large B-cell lymphoma with a complex karyotype including a TP53 deletion.

Sinkoff J, Olteanu H, Peterson JF, Shah NN.

Clin Case Rep. 2017 Dec 5;6(1):235-237. doi: 10.1002/ccr3.1250. eCollection 2018 Jan.


Multisite Investigation of Strategies for the Implementation of CYP2C19 Genotype-Guided Antiplatelet Therapy.

Empey PE, Stevenson JM, Tuteja S, Weitzel KW, Angiolillo DJ, Beitelshees AL, Coons JC, Duarte JD, Franchi F, Jeng LJB, Johnson JA, Kreutz RP, Limdi NA, Maloney KA, Owusu Obeng A, Peterson JF, Petry N, Pratt VM, Rollini F, Scott SA, Skaar TC, Vesely MR, Stouffer GA, Wilke RA, Cavallari LH, Lee CR; IGNITE Network.

Clin Pharmacol Ther. 2018 Oct;104(4):664-674. doi: 10.1002/cpt.1006. Epub 2018 Jan 30.


Multisite Investigation of Outcomes With Implementation of CYP2C19 Genotype-Guided Antiplatelet Therapy After Percutaneous Coronary Intervention.

Cavallari LH, Lee CR, Beitelshees AL, Cooper-DeHoff RM, Duarte JD, Voora D, Kimmel SE, McDonough CW, Gong Y, Dave CV, Pratt VM, Alestock TD, Anderson RD, Alsip J, Ardati AK, Brott BC, Brown L, Chumnumwat S, Clare-Salzler MJ, Coons JC, Denny JC, Dillon C, Elsey AR, Hamadeh IS, Harada S, Hillegass WB, Hines L, Horenstein RB, Howell LA, Jeng LJB, Kelemen MD, Lee YM, Magvanjav O, Montasser M, Nelson DR, Nutescu EA, Nwaba DC, Pakyz RE, Palmer K, Peterson JF, Pollin TI, Quinn AH, Robinson SW, Schub J, Skaar TC, Smith DM, Sriramoju VB, Starostik P, Stys TP, Stevenson JM, Varunok N, Vesely MR, Wake DT, Weck KE, Weitzel KW, Wilke RA, Willig J, Zhao RY, Kreutz RP, Stouffer GA, Empey PE, Limdi NA, Shuldiner AR, Winterstein AG, Johnson JA; IGNITE Network.

JACC Cardiovasc Interv. 2018 Jan 22;11(2):181-191. doi: 10.1016/j.jcin.2017.07.022. Epub 2017 Nov 1.


The Complexities of Defining a Complex Karyotype in Hematological Malignancies: A Need for Standardization?

Peterson JF.

Acta Haematol. 2017;138(1):65-66. doi: 10.1159/000477894. Epub 2017 Jul 26. Review. No abstract available.


The importance of communicating histories of gender assignment and reassignment to genetic laboratories.

Peterson JF, Andringa PJ, Grignon JW Jr, vanTuinen P.

Genet Med. 2017 Nov;19(11):1205-1206. doi: 10.1038/gim.2017.44. Epub 2017 Apr 27. No abstract available.


Healthcare provider education to support integration of pharmacogenomics in practice: the eMERGE Network experience.

Rohrer Vitek CR, Abul-Husn NS, Connolly JJ, Hartzler AL, Kitchner T, Peterson JF, Rasmussen LV, Smith ME, Stallings S, Williams MS, Wolf WA, Prows CA.

Pharmacogenomics. 2017 Jul;18(10):1013-1025. doi: 10.2217/pgs-2017-0038. Epub 2017 Jun 22.


Ensembles in medial and lateral orbitofrontal cortex construct cognitive maps emphasizing different features of the behavioral landscape.

Lopatina N, Sadacca BF, McDannald MA, Styer CV, Peterson JF, Cheer JF, Schoenbaum G.

Behav Neurosci. 2017 Jun;131(3):201-212. doi: 10.1037/bne0000195.


Two Distinct BCL2 Rearrangements, Each Observed in 2 Independent Subclones, Evolving from a Founder Clone with Trisomy 12 in a Unique Case of Chronic Lymphocytic Leukemia/Small Lymphocytic Lymphoma.

Peterson JF, Shah R, Kobrinski D.

Acta Haematol. 2017;137(4):237-239. doi: 10.1159/000474926. Epub 2017 May 18. No abstract available.


Mosaic Trisomy 9p in a Patient with Mild Dysmorphic Features and Normal Intelligence.

Brar R, Basel DG, Bick DP, Weik L, vanTuinen P, Peterson JF.

J Assoc Genet Technol. 2017;43(2):56-58.


The IGNITE Pharmacogenetics Working Group: An Opportunity for Building Evidence with Pharmacogenetic Implementation in a Real-World Setting.

Cavallari LH, Beitelshees AL, Blake KV, Dressler LG, Duarte JD, Elsey A, Eichmeyer JN, Empey PE, Franciosi JP, Hicks JK, Holmes AM, Jeng L, Lee CR, Lima JJ, Limdi NA, Modlin J, Obeng AO, Petry N, Pratt VM, Skaar TC, Tuteja S, Voora D, Wagner M, Weitzel KW, Wilke RA, Peterson JF, Johnson JA.

Clin Transl Sci. 2017 May;10(3):143-146. doi: 10.1111/cts.12456. Epub 2017 Mar 14. Review. No abstract available.


Implementing Genomic Clinical Decision Support for Drug-Based Precision Medicine.

Freimuth RR, Formea CM, Hoffman JM, Matey E, Peterson JF, Boyce RD.

CPT Pharmacometrics Syst Pharmacol. 2017 Mar;6(3):153-155. doi: 10.1002/psp4.12173. Review.


The Pharmacogenomics Research Network Translational Pharmacogenetics Program: Outcomes and Metrics of Pharmacogenetic Implementations Across Diverse Healthcare Systems.

Luzum JA, Pakyz RE, Elsey AR, Haidar CE, Peterson JF, Whirl-Carrillo M, Handelman SK, Palmer K, Pulley JM, Beller M, Schildcrout JS, Field JR, Weitzel KW, Cooper-DeHoff RM, Cavallari LH, O'Donnell PH, Altman RB, Pereira N, Ratain MJ, Roden DM, Embi PJ, Sadee W, Klein TE, Johnson JA, Relling MV, Wang L, Weinshilboum RM, Shuldiner AR, Freimuth RR; Pharmacogenomics Research Network Translational Pharmacogenetics Program.

Clin Pharmacol Ther. 2017 Sep;102(3):502-510. doi: 10.1002/cpt.630. Epub 2017 Jun 9.



Wiley LK, Vanhouten JP, Samuels DC, Aldrich MC, Roden DM, Peterson JF, Denny JC.

Pac Symp Biocomput. 2017;22:545-556. doi: 10.1142/9789813207813_0050.


Identification of High-risk Cryptic CRLF2 Rearrangements in B-Cell Acute Lymphoblastic Leukemia Utilizing an FGFR3/IGH Dual-Color Dual-Fusion DNA Probe Set.

Robin AJ, Peterson JF, Grignon JW Jr, Gheorghe G, Burke MJ, vanTuinen P.

J Pediatr Hematol Oncol. 2017 May;39(4):e207-e210. doi: 10.1097/MPH.0000000000000691.


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