Publications

  1. Atiq MA, Balan J, Blackburn PR, Gross JM, Voss JS, Jin L, Fadra N, Davila JI, Pitel BA, Siqueira Parrilha Terra SB, Minn KT, Jackson RA, Hofich CD, Willkomm KS, Peterson BJ, Clausen SN, Rumilla KM, Gupta S, Lo YC, Ida CM, Molligan JF, Thangaiah JJ, Petersen MJ, Sukov WR, Guo R, Giannini C, Schoolmeester JK 2nd, Fritchie K, Inwards CY, Folpe AL, Oliveira AM, Torres-Mora J, Kipp BR, Halling KC. SARCP, a Clinical Next-Generation Sequencing Assay for the Detection of Gene Fusions in Sarcomas: A Description of the First 652 Cases. J Mol Diagn. 2024 Nov 7 Epub 2024 Nov 07
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  2. Guo S, Schmitt AC, Lewis JS Jr, Lo YC, Rumilla AM, Tazelaar HD. Bronchial Sialadenoma Papilliferum in a 10-Year-Old Boy. Int J Surg Pathol. 2024 Oct 3; 10668969241283482 Epub 2024 Oct 03
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  3. Ding Q, Hofich CD, Kellogg TB, Kuennen RK, Paxton KN, Thieke SM, Rumilla KM, Hasadsri L. Accurate and Automated Genotyping of the CFTR Poly-T/TG Tract with CFTR-TIPS. Int J Mol Sci. 2024 Aug 5; 25 (15) Epub 2024 Aug 05
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  4. Walsh JR, Sun G, Balan J, Hardcastle J, Vollenweider J, Jerde C, Rumilla K, Koellner C, Koleilat A, Hasadsri L, Kipp B, Jenkinson G, Klee E. A supervised learning method for classifying methylation disorders. BMC Bioinformatics. 2024 Feb 12; 25 (1):66
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  5. Lockwood CM, Borsu L, Cankovic M, Earle JSL, Gocke CD, Hameed M, Jordan D, Lopategui JR, Pullambhatla M, Reuther J, Rumilla KM, Tafe LJ, Temple-Smolkin RL, Terraf P, Tsimberidou AM. Recommendations for Cell-Free DNA Assay Validations: A Joint Consensus Recommendation of the Association for Molecular Pathology and College of American Pathologists. J Mol Diagn. 2023 Dec; 25 (12):876-897 Epub 2023 Oct 06
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  6. Chatzopoulos K, Davila JI, Fadra N, Jackson RA, Minn KT, Sotiriou S, Oliveira AM, Erickson LA, Halling KC, Rumilla KM, Rivera M. Transcriptomic and immunophenotypic characterization of two cases of adamantinoma-like Ewing sarcoma of the thyroid gland. Histopathology. 2023 Sep; 83 (3):426-434 Epub 2023 May 17
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  7. Buglioni A, Guo R, Rumilla KM, Edgar MA, Markovic SN, Zheng G. An Unexpected Diagnosis Uncovered by Quantitative Molecular Findings: A Case Report. J Natl Compr Canc Netw. 2023 Aug; 21 (8):787-791
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  8. Slostad JA, Liu MC, Allred JB, Erickson LA, Rumilla KM, Block MS, Keppen M, King D, Markovic SN, McWilliams RR. BRAF V600 Mutation Detection in Plasma Cell-Free DNA: NCCTG N0879 (Alliance). Mayo Clin Proc Innov Qual Outcomes. 2021 Dec; 5 (6):1012-1020 Epub 2021 Oct 13
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  9. DiGuardo MA, Davila JI, Jackson RA, Nair AA, Fadra N, Minn KT, Atiq MA, Zarei S, Blommel JH, Knight SM, Jen J, Eckloff BW, Voss JS, Rumilla KM, Kerr SE, Lam-Himlin DM, Bellizzi AM, Graham RP, Kipp BR, Jenkins RB, Halling KC. RNA-Seq Reveals Differences in Expressed Tumor Mutation Burden in Colorectal and Endometrial Cancers with and without Defective DNA-Mismatch Repair. J Mol Diagn. 2021 May; 23(5):555-564. Epub 2021 Feb 04.
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  10. Zhao Y, Yu H, Ida CM, Halling KC, Kipp BR, Geiersbach K, Rumilla KM, Gupta S, Lin MT, Zheng G. Assessment of RAS Dependency for BRAF Alterations Using Cancer Genomic Databases. JAMA Netw Open. 2021 Jan 04; 4(1):e2035479.
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  11. Bible KC, Menefee ME, Lin CC, Millward MJ, Maples WJ, Goh BC, Karlin NJ, Kane MA, Adkins DR, Molina JR, Donehower RC, Lim WT, Flynn PJ, Richardson RL, Traynor AM, Rubin J, LoRusso PM, Smallridge RC, Burton JK, Suman VJ, Kumar A, Voss JS, Rumilla KM, Kipp BR, Chintakuntlawar AV, Harris P, Erlichman C. An International Phase 2 Study of Pazopanib in Progressive and Metastatic Thyroglobulin Antibody Negative Radioactive Iodine Refractory Differentiated Thyroid Cancer. Thyroid. 2020 Sep; 30 (9):1254-1262 Epub 2020 July 29
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  12. DeLeon TT, Almquist DR, Kipp BR, Langlais BT, Mangold A, Winters JL, Kosiorek HE, Joseph RW, Dronca RS, Block MS, McWilliams RR, Kottschade LA, Rumilla KM, Voss JS, Seetharam M, Sekulic A, Markovic SN, Bryce AH. Assessment of clinical outcomes with immune checkpoint inhibitor therapy in melanoma patients with CDKN2A and TP53 pathogenic mutations. PLoS One. 2020; 15 (3):e0230306 Epub 2020 Mar 20
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  13. Boyum JH, Atwell TD, Wall DJ, Mansfield AS, Kerr SE, Gunderson TM, Rumilla KM, Weisbrod AJ, Kurup AN. Incidence of major hemorrhage after aggressive image-guided liver mass biopsy in the era of individualized medicine. Abdom Radiol (NY). 2019 Jun; 44 (6):2067-2073
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  14. Hoppman N, Rumilla K, Lauer E, Kearney H, Thorland E. Patterns of homozygosity in patients with uniparental disomy: detection rate and suggested reporting thresholds for SNP microarrays. Genet Med. 2018 Dec; 20 (12):1522-1527 Epub 2018 Mar 22
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  15. Winters JL, Davila JI, McDonald AM, Nair AA, Fadra N, Wehrs RN, Thomas BC, Balcom JR, Jin L, Wu X, Voss JS, Klee EW, Oliver GR, Graham RP, Neff JL, Rumilla KM, Aypar U, Kipp BR, Jenkins RB, Jen J, Halling KC. Development and Verification of an RNA Sequencing (RNA-Seq) Assay for the Detection of Gene Fusions in Tumors. J Mol Diagn. 2018 Jul; 20(4):495-511. Epub 2018 Jun 19.
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  16. McWilliams RR, Allred JB, Slostad JA, Katipamula R, Dronca RS, Rumilla KM, Erickson LA, Bryce AH, Joseph RW, Kottschade LA, King DM, Leitch JM, Markovic SN. NCCTG N0879 (Alliance): A randomized phase 2 cooperative group trial of carboplatin, paclitaxel, and bevacizumab +/- everolimus for metastatic melanoma. Cancer. 2018 Feb 1; 124 (3):537-545 Epub 2017 Oct 17
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  17. Liewluck T, Sorenson EJ, Walkiewicz MA, Rumilla KM, Milone M. Autosomal dominant distal myopathy due to a novel ACTA1 mutation. Neuromuscul Disord. 2017 Aug; 27 (8):742-746 Epub 2017 May 05
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  18. Chintakuntlawar AV, Rumilla KM, Smith CY, Jenkins SM, Foote RL, Kasperbauer JL, Morris JC, Ryder M, Alsidawi S, Hilger C, Bible KC. Expression of PD-1 and PD-L1 in Anaplastic Thyroid Cancer Patients Treated With Multimodal Therapy: Results From a Retrospective Study. J Clin Endocrinol Metab. 2017 Jun 01; 102(6):1943-1950.
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  19. Bryce AH, Egan JB, Borad MJ, Stewart AK, Nowakowski GS, Chanan-Khan A, Patnaik MM, Ansell SM, Banck MS, Robinson SI, Mansfield AS, Klee EW, Oliver GR, McCormick JB, Huneke NE, Tagtow CM, Jenkins RB, Rumilla KM, Kerr SE, Kocher JA, Beck SA, Fernandez-Zapico ME, Farrugia G, Lazaridis KN, McWilliams RR. Experience with precision genomics and tumor board, indicates frequent target identification, but barriers to delivery. Oncotarget. 2017 Apr 18; 8 (16):27145-27154
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  20. Egan JB, Marks DL, Hogenson TL, Vrabel AM, Sigafoos AN, Tolosa EJ, Carr RM, Safgren SL, Hesles EE, Almada LL, Romecin-Duran PA, Iguchi E, Ala'Aldeen A, Kocher JA, Oliver GR, Prodduturi N, Mead DW, Hossain A, Huneke NE, Tagtow CM, Ailawadhi S, Ansell SM, Banck MS, Bryce AH, Carballido EM, Chanan-Khan AA, Curtis KK, Resnik E, Gawryletz CD, Go RS, Halfdanarson TR, Ho TH, Joseph RW, Kapoor P, Mansfield AS, Meurice N, Nageswara Rao AA, Nowakowski GS, Pardanani A, Parikh SA, Cheville JC, Feldman AL, Ramanathan RK, Robinson SI, Tibes R, Finnes HD, McCormick JB, McWilliams RR, Jatoi A, Patnaik MM, Silva AC, Wieben ED, McAllister TM, Rumilla KM, Kerr SE, Lazaridis KN, Farrugia G, Stewart AK, Clark KJ, Kennedy EJ, Klee EW, Borad MJ, Fernandez-Zapico ME. Molecular Modeling and Functional Analysis of Exome Sequencing-Derived Variants of Unknown Significance Identify a Novel, Constitutively Active FGFR2 Mutant in Cholangiocarcinoma. JCO Precis Oncol. 2017; 2017 Epub 2017 Aug 01
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  21. Davila JI, Fadra NM, Wang X, McDonald AM, Nair AA, Crusan BR, Wu X, Blommel JH, Jen J, Rumilla KM, Jenkins RB, Aypar U, Klee EW, Kipp BR, Halling KC. Impact of RNA degradation on fusion detection by RNA-seq. BMC Genomics. 2016 Oct 20; 17(1):814.
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  22. Leventakos K, Kipp BR, Rumilla KM, Winters JL, Yi ES, Mansfield AS. S768I Mutation in EGFR in Patients with Lung Cancer. J Thorac Oncol. 2016 Oct; 11 (10):1798-801 Epub 2016 May 20
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  23. Thompson SM, Vella A, Thompson GB, Rumilla KM, Service FJ, Grant CS, Andrews JC. Selective Arterial Calcium Stimulation With Hepatic Venous Sampling Differentiates Insulinoma From Nesidioblastosis. J Clin Endocrinol Metab. 2015 Nov; 100 (11):4189-97 Epub 2015 Aug 27
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  24. Graham RP, Dina MA, Howe SC, Butz ML, Willkomm KS, Murray DL, Snyder MR, Rumilla KM, Halling KC, Highsmith WE Jr. SERPINA1 Full-Gene Sequencing Identifies Rare Mutations Not Detected in Targeted Mutation Analysis. J Mol Diagn. 2015 Nov; 17 (6):689-94 Epub 2015 Aug 28
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  25. Graham RP, Kerr SE, Butz ML, Thibodeau SN, Halling KC, Smyrk TC, Dina MA, Waugh VM, Rumilla KM. Heterogenous MSH6 loss is a result of microsatellite instability within MSH6 and occurs in sporadic and hereditary colorectal and endometrial carcinomas. Am J Surg Pathol. 2015 Oct; 39: (10)1370-6.
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  26. Jin L, Lloyd RV, Henry MR, Erickson LA, Sebo TJ, Rumilla KM, Zhang J. The diagnostic utility of combination of HMGA2 and IMP3 qRT-PCR testing in thyroid neoplasms. Appl Immunohistochem Mol Morphol. 2015 Jan; 23 (1):36-43
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  27. Mounajjed T, Brown CL, Stern TK, Bjorheim AM, Bridgeman AJ, Rumilla KM, McWilliams RR, Flotte TJ. Preappointment testing for BRAF/KIT mutation in advanced melanoma: a model in molecular data delivery for individualized medicine. Hum Pathol. 2014 Nov; 45 (11):2240-6 Epub 2014 July 30
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  28. Roberts ME, Riegert-Johnson DL, Thomas BC, Rumilla KM, Thomas CS, Heckman MG, Purcell JU, Hanson NB, Leppig KA, Lim J, Cappel MA. A clinical scoring system to identify patients with sebaceous neoplasms at risk for the Muir-Torre variant of Lynch syndrome. Genet Med. 2014 Sep; 16 (9):711-6 Epub 2014 Mar 06
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  29. Roden AC, Hu X, Kip S, Parrilla Castellar ER, Rumilla KM, Vrana JA, Vassallo R, Ryu JH, Yi ES. BRAF V600E expression in Langerhans cell histiocytosis: clinical and immunohistochemical study on 25 pulmonary and 54 extrapulmonary cases. Am J Surg Pathol. 2014 Apr; 38(4):548-51.
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  30. Reddi HV, Thomas BC, Willkomm KS, Ferber MJ, Rumilla KM, Raymond KM, O'Brien JF, Highsmith WE. Discordant results between biochemical and molecular transthyretin assays: lessons learned from a unique testing algorithm at the Mayo Clinic. J Genet. 2013 Dec; 92 (3):599-604
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  31. Roberts ME, Riegert-Johnson DL, Thomas BC, Thomas CS, Heckman MG, Krishna M, DiCaudo DJ, Bridges AG, Hunt KS, Rumilla KM, Cappel MA. Screening for Muir-Torre syndrome using mismatch repair protein immunohistochemistry of sebaceous neoplasms. J Genet Couns. 2013 Jun; 22 (3):393-405 Epub 2012 Dec 06
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  32. Galanis E, Markovic SN, Suman VJ, Nuovo GJ, Vile RG, Kottke TJ, Nevala WK, Thompson MA, Lewis JE, Rumilla KM, Roulstone V, Harrington K, Linette GP, Maples WJ, Coffey M, Zwiebel J, Kendra K. Phase II trial of intravenous administration of Reolysin((R)) (Reovirus Serotype-3-dearing Strain) in patients with metastatic melanoma. Mol Ther. 2012 Oct; 20 (10):1998-2003 Epub 2012 Aug 07
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  33. Rumilla K, Schowalter KV, Lindor NM, Thomas BC, Mensink KA, Gallinger S, Holter S, Newcomb PA, Potter JD, Jenkins MA, Hopper JL, Long TI, Weisenberger DJ, Haile RW, Casey G, Laird PW, Le Marchand L, Thibodeau SN. Frequency of deletions of EPCAM (TACSTD1) in MSH2-associated Lynch syndrome cases. J Mol Diagn. 2011 Jan; 13 (1):93-9 Epub 2010 Dec 23
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  34. Rumilla K, Chen D, Baudhuin LM. Pharmacogenetics in hemostasis: friend or foe? Semin Thromb Hemost. 2009 Feb; 35(1):42-9 Epub 2009 Mar 23.
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  35. Rumilla KM, Erickson LA, Service FJ, Vella A, Thompson GB, Grant CS, Lloyd RV. Hyperinsulinemic hypoglycemia with nesidioblastosis: histologic features and growth factor expression. Mod Pathol. 2009 Feb; 22 (2):239-45 Epub 2008 Oct 17
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  36. Rumilla KM, Winters JL, Peterman JM, Jedynak EA, Homburger HA. Development and validation of a fluorescent microsphere immunoassay for anti-IgA. Immunohematology. 2009; 25 (1):24-8
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  37. Sadow PM, Rumilla KM, Erickson LA, Lloyd RV. Stathmin expression in pheochromocytomas, paragangliomas, and in other endocrine tumors. Endocr Pathol. 2008 Summer; 19(2):97-103.
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  38. Klein RD, Jin L, Rumilla K, Young WF Jr, Lloyd RV. Germline SDHB mutations are common in patients with apparently sporadic sympathetic paragangliomas. Diagn Mol Pathol. 2008 Jun; 17(2):94-100.
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  39. Vieira Neto L, Taboada GF, Correa LL, Polo J, Nascimento AF, Chimelli L, Rumilla K, Gadelha MR. Acromegaly secondary to growth hormone-releasing hormone secreted by an incidentally discovered pheochromocytoma. Endocr Pathol. 2007 Spring; 18(1):46-52.
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  40. Zhang HY, Rumilla KM, Jin L, Nakamura N, Stilling GA, Ruebel KH, Hobday TJ, Erlichman C, Erickson LA, Lloyd RV. Association of DNA methylation and epigenetic inactivation of RASSF1A and beta-catenin with metastasis in small bowel carcinoid tumors. Endocrine. 2006 Dec; 30 (3):299-306
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  41. Rumilla KM, Erickson LA, Erickson AK, Lloyd RV. Galectin-4 expression in carcinoid tumors. Endocr Pathol. 2006 Fall; 17 (3):243-9
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  42. Nakamura N, Erickson LA, Jin L, Kajita S, Zhang H, Qian X, Rumilla K, Lloyd RV. Immunohistochemical separation of follicular variant of papillary thyroid carcinoma from follicular adenoma. Endocr Pathol. 2006 Fall; 17 (3):213-23
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  43. Shimotake TK, Izhar FM, Rumilla K, Li J, Tan A, Page K, Brasier AR, Schreiber MD, Hershenson MB. Interleukin (IL)-1 beta in tracheal aspirates from premature infants induces airway epithelial cell IL-8 expression via an NF-kappa B dependent pathway. Pediatr Res. 2004 Dec; 56(6):907-13. Epub 2004 Oct 20.
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  44. Lijnen P, Petrov V, Rumilla K, Fagard R. Transforming growth factor-beta 1 promotes contraction of collagen gel by cardiac fibroblasts through their differentiation into myofibroblasts. Methods Find Exp Clin Pharmacol. 2003 Mar; 25(2):79-86.
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  45. Lijnen P, Petrov V, Rumilla K, Fagard R. Stimulation of collagen gel contraction by angiotensin II and III in cardiac fibroblasts. J Renin Angiotensin Aldosterone Syst. 2002 Sep; 3(3):160-6.
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  46. Page K, Li J, Corbit KC, Rumilla KM, Soh JW, Weinstein IB, Albanese C, Pestell RG, Rosner MR, Hershenson MB. Regulation of airway smooth muscle cyclin D1 transcription by protein kinase C-delta. Am J Respir Cell Mol Biol. 2002 Aug; 27(2):204-13.
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