Rumilla K - Search Results

1

Frequency of deletions of EPCAM (TACSTD1) in MSH2-associated Lynch syndrome cases.

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. Rumilla K, et al. J Mol Diagn. 2011 Jan;13(1):93-9. doi: 10.1016/j.jmoldx.2010.11.011. Epub 2010 Dec 23. J Mol Diagn. 2011. PMID: 21227399 Free PMC article.

2

Screening for Muir-Torre syndrome using mismatch repair protein immunohistochemistry of sebaceous neoplasms.

Roberts ME, Riegert-Johnson DL, Thomas BC, Thomas CS, Heckman MG, Krishna M, DiCaudo DJ, Bridges AG, Hunt KS, Rumilla KM, Cappel MA. Roberts ME, et al. J Genet Couns. 2013 Jun;22(3):393-405. doi: 10.1007/s10897-012-9552-4. Epub 2012 Dec 6. J Genet Couns. 2013. PMID: 23212176

3

Discordant results between biochemical and molecular transthyretin assays: lessons learned from a unique testing algorithm at the Mayo Clinic.

Reddi HV, Thomas BC, Willkomm KS, Ferber MJ, Rumilla KM, Raymond KM, O'Brien JF, Highsmith WE. Reddi HV, et al. J Genet. 2013 Dec;92(3):599-604. doi: 10.1007/s12041-013-0303-6. J Genet. 2013. PMID: 24371183 Free article. No abstract available.

4

A clinical scoring system to identify patients with sebaceous neoplasms at risk for the Muir-Torre variant of Lynch syndrome.

Roberts ME, Riegert-Johnson DL, Thomas BC, Rumilla KM, Thomas CS, Heckman MG, Purcell JU, Hanson NB, Leppig KA, Lim J, Cappel MA. Roberts ME, et al. Genet Med. 2014 Sep;16(9):711-6. doi: 10.1038/gim.2014.19. Epub 2014 Mar 6. Genet Med. 2014. PMID: 24603434 Free article.

5

Heterogenous MSH6 loss is a result of microsatellite instability within MSH6 and occurs in sporadic and hereditary colorectal and endometrial carcinomas.

Graham RP, Kerr SE, Butz ML, Thibodeau SN, Halling KC, Smyrk TC, Dina MA, Waugh VM, Rumilla KM. Graham RP, et al. Am J Surg Pathol. 2015 Oct;39(10):1370-6. doi: 10.1097/PAS.0000000000000459. Am J Surg Pathol. 2015. PMID: 26099011

6

SERPINA1 Full-Gene Sequencing Identifies Rare Mutations Not Detected in Targeted Mutation Analysis.

Graham RP, Dina MA, Howe SC, Butz ML, Willkomm KS, Murray DL, Snyder MR, Rumilla KM, Halling KC, Highsmith WE Jr. Graham RP, et al. J Mol Diagn. 2015 Nov;17(6):689-94. doi: 10.1016/j.jmoldx.2015.07.002. Epub 2015 Aug 28. J Mol Diagn. 2015. PMID: 26321041 Free article.

7

Development and Verification of an RNA Sequencing (RNA-Seq) Assay for the Detection of Gene Fusions in Tumors.

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. Winters JL, et al. Among authors: rumilla km. J Mol Diagn. 2018 Jul;20(4):495-511. doi: 10.1016/j.jmoldx.2018.03.007. Epub 2018 Jun 19. J Mol Diagn. 2018. PMID: 29929942 Free article.

8

RNA-Seq Reveals Differences in Expressed Tumor Mutation Burden in Colorectal and Endometrial Cancers with and without Defective DNA-Mismatch Repair.

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. DiGuardo MA, et al. Among authors: rumilla km. J Mol Diagn. 2021 May;23(5):555-564. doi: 10.1016/j.jmoldx.2021.01.008. Epub 2021 Feb 4. J Mol Diagn. 2021. PMID: 33549857 Free article.

9

Association of DNA methylation and epigenetic inactivation of RASSF1A and beta-catenin with metastasis in small bowel carcinoid tumors.

Zhang HY, Rumilla KM, Jin L, Nakamura N, Stilling GA, Ruebel KH, Hobday TJ, Erlichman C, Erickson LA, Lloyd RV. Zhang HY, et al. Endocrine. 2006 Dec;30(3):299-306. doi: 10.1007/s12020-006-0008-1. Endocrine. 2006. PMID: 17526942

10

Germline SDHB mutations are common in patients with apparently sporadic sympathetic paragangliomas.

Klein RD, Jin L, Rumilla K, Young WF Jr, Lloyd RV. Klein RD, et al. Among authors: rumilla k. Diagn Mol Pathol. 2008 Jun;17(2):94-100. doi: 10.1097/PDM.0b013e318150d67c. Diagn Mol Pathol. 2008. PMID: 18382370

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