Search Results - "RUMILLA, Kandelaria"

Expression of PD-1 and PD-L1 in Anaplastic Thyroid Cancer Patients Treated With Multimodal Therapy: Results From a Retrospective Study by Chintakuntlawar, Ashish V, Rumilla, Kandelaria M, Smith, Carin Y, Jenkins, Sarah M, Foote, Robert L, Kasperbauer, Jan L, Morris, John C, Ryder, Mabel, Alsidawi, Samer, Hilger, Crystal, Bible, Keith C

“…Anaplastic thyroid cancer (ATC) is rare and a highly fatal malignancy. The role of programmed death-1 (PD-1) and programmed death ligand-1 (PD-L1) as…”
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Transcriptomic and immunophenotypic characterization of two cases of adamantinoma‐like Ewing sarcoma of the thyroid gland by Chatzopoulos, Kyriakos, Davila, Jaime I., Fadra, Numrah, Jackson, Rory A., Minn, Kay T., Sotiriou, Sotiris, Oliveira, Andre M., Erickson, Lori A., Halling, Kevin C., Rumilla, Kandelaria M., Rivera, Michael

“…Introduction Adamantinoma‐like Ewing sarcoma (ALES) is a rare aggressive malignancy occasionally diagnosed in the thyroid gland. ALES shows basaloid…”
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Accurate and Automated Genotyping of the CFTR Poly-T/TG Tract with CFTR -TIPS by Ding, Qiliang, Hofich, Christopher D, Kellogg, Tifani B, Kuennen, Rhonda K, Paxton, Kaitlin N, Thieke, Sarah M, Rumilla, Kandelaria M, Hasadsri, Linda

“…Cystic fibrosis is caused by biallelic pathogenic variants in the gene, which contains a polymorphic (TG) T sequence (the "poly-T/TG tract") in intron 9. While…”
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Selective Arterial Calcium Stimulation With Hepatic Venous Sampling Differentiates Insulinoma From Nesidioblastosis by Thompson, Scott M, Vella, Adrian, Thompson, Geoffrey B, Rumilla, Kandelaria M, Service, F. John, Grant, Clive S, Andrews, James C

“…Context: In adult patients with endogenous hyperinsulinemic hypoglycemia and negative or inconclusive noninvasive imaging, insulinoma and non-insulinoma…”
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S768I Mutation in EGFR in Patients with Lung Cancer by Leventakos, Konstantinos, Kipp, Benjamin R, Rumilla, Kandelaria M, Winters, Jennifer L, Yi, Eunhee S, Mansfield, Aaron S

“…Epidermal growth factor receptor gene (EGFR) mutations are relatively common oncogenic drivers in non-small cell lung cancer (NSCLC). The outcomes of patients…”
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Recommendations for Cell-Free DNA Assay Validations: A Joint Consensus Recommendation of the Association for Molecular Pathology and College of American Pathologists by Lockwood, Christina M, Borsu, Laetitia, Cankovic, Milena, Earle, Jonathan S L, Gocke, Christopher D, Hameed, Meera, Jordan, Danielle, Lopategui, Jean R, Pullambhatla, Mrudula, Reuther, Jacquelyn, Rumilla, Kandelaria M, Tafe, Laura J, Temple-Smolkin, Robyn L, Terraf, Panieh, Tsimberidou, Apostolia M

“…Diagnosing, selecting therapy for, and monitoring cancer in patients using a minimally invasive blood test represents a significant advance in precision…”
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A supervised learning method for classifying methylation disorders by Walsh, Jesse R, Sun, Guangchao, Balan, Jagadheshwar, Hardcastle, Jayson, Vollenweider, Jason, Jerde, Calvin, Rumilla, Kandelaria, Koellner, Christy, Koleilat, Alaa, Hasadsri, Linda, Kipp, Benjamin, Jenkinson, Garrett, Klee, Eric

“…DNA methylation is one of the most stable and well-characterized epigenetic alterations in humans. Accordingly, it has already found clinical utility as a…”
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BRAF V600E Expression in Langerhans Cell Histiocytosis: Clinical and Immunohistochemical Study on 25 Pulmonary and 54 Extrapulmonary Cases by Roden, Anja C, Hu, Xiaowen, Kip, Sertac, Parrilla Castellar, Edgardo R, Rumilla, Kandelaria M, Vrana, Julie A, Vassallo, Robert, Ryu, Jay H, Yi, Eunhee S

“…Pulmonary Langerhans cell histiocytosis (PLCH) has been postulated to be a smoking-related non-neoplastic condition, distinct from extrapulmonary LCH, which is…”
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P711: PMS2 in somatic oncology testing: Real or pseudogene interference? by Waltman, Lindsey, Rumilla, Kandelaria, Al Kateb, Hussam

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A clinical scoring system to identify patients with sebaceous neoplasms at risk for the Muir–Torre variant of Lynch syndrome by Roberts, Maegan E., Riegert-Johnson, Douglas L., Thomas, Brittany C., Rumilla, Kandelaria M., Thomas, Colleen S., Heckman, Michael G., Purcell, Jennifer U., Hanson, Nancy B., Leppig, Kathleen A., Lim, Justin, Cappel, Mark A.

“…Purpose: The Muir–Torre syndrome variant of Lynch syndrome is characterized by the presence of sebaceous neoplasms (adenoma, epithelioma/sebaceoma, carcinoma)…”
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Assessment of clinical outcomes with immune checkpoint inhibitor therapy in melanoma patients with CDKN2A and TP53 pathogenic mutations by DeLeon, Thomas T, Almquist, Daniel R, Kipp, Benjamin R, Langlais, Blake T, Mangold, Aaron, Winters, Jennifer L, Kosiorek, Heidi E, Joseph, Richard W, Dronca, Roxana S, Block, Matthew S, McWilliams, Robert R, Kottschade, Lisa A, Rumilla, Kandelaria M, Voss, Jesse S, Seetharam, Mahesh, Sekulic, Aleksandar, Markovic, Svetomir N, Bryce, Alan H

“…CDKN2A and TP53 mutations are recurrent events in melanoma, occurring in 13.3% and 15.1% of cases respectively and are associated with poorer outcomes. It is…”
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Heterogenous MSH6 Loss Is a Result of Microsatellite Instability Within MSH6 and Occurs in Sporadic and Hereditary Colorectal and Endometrial Carcinomas by Graham, Rondell P, Kerr, Sarah E, Butz, Malinda L, Thibodeau, Stephen N, Halling, Kevin C, Smyrk, Thomas C, Dina, Michelle A, Waugh, Victoria M, Rumilla, Kandelaria M

“…Mismatch-repair (MMR) immunohistochemistry is used to detect tumor MMR deficiency associated with high-level microsatellite instability (MSI). Rare tumors show…”
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Phase II Trial of Intravenous Administration of Reolysin® (Reovirus Serotype-3-dearing Strain) in Patients with Metastatic Melanoma by Galanis, Evanthia, Markovic, Svetomir N, Suman, Vera J, Nuovo, Gerard J, Vile, Richard G, Kottke, Timothy J, Nevala, Wendy K, Thompson, Michael A, Lewis, Jean E, Rumilla, Kandelaria M, Roulstone, Victoria, Harrington, Kevin, Linette, Gerald P, Maples, William J, Coffey, Matt, Zwiebel, James, Kendra, Kari

“…Reovirus, a replication competent RNA virus, has preclinical activity against melanoma lines and xenografts. We conducted a phase II trial of reovirus in…”
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P688: A pilot mentorship program for the career advancement of underrepresented individuals in laboratory genomics at Mayo Clinic by Koleilat, Alaa, Hasadsri, Linda, Rumilla, Kandelaria, Niu, Zhiyv

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Autosomal Dominant Distal Myopathy due to a Novel ACTA1 Mutation by Liewluck, Teerin, MD, Sorenson, Eric J., MD, Walkiewicz, Magdalena A., PhD, Rumilla, Kandelaria M., MD, Milone, Margherita, MD, PhD

“…Highlights • We described a family with autosomal dominant, early-onset distal myopathy. • A novel ACTA1 mutation was identified. • This family broadens the…”
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Development and Verification of an RNA Sequencing (RNA-Seq) Assay for the Detection of Gene Fusions in Tumors by Winters, Jennifer L., Davila, Jaime I., McDonald, Amber M., Nair, Asha A., Fadra, Numrah, Wehrs, Rebecca N., Thomas, Brittany C., Balcom, Jessica R., Jin, Long, Wu, Xianglin, Voss, Jesse S., Klee, Eric W., Oliver, Gavin R., Graham, Rondell P., Neff, Jadee L., Rumilla, Kandelaria M., Aypar, Umut, Kipp, Benjamin R., Jenkins, Robert B., Jen, Jin, Halling, Kevin C.

“…We assessed the performance characteristics of an RNA sequencing (RNA-Seq) assay designed to detect gene fusions in 571 genes to help manage patients with…”
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Impact of RNA degradation on fusion detection by RNA-seq by Davila, Jaime I, Fadra, Numrah M, Wang, Xiaoke, McDonald, Amber M, Nair, Asha A, Crusan, Barbara R, Wu, Xianglin, Blommel, Joseph H, Jen, Jin, Rumilla, Kandelaria M, Jenkins, Robert B, Aypar, Umut, Klee, Eric W, Kipp, Benjamin R, Halling, Kevin C

“…RNA-seq is a well-established method for studying the transcriptome. Popular methods for library preparation in RNA-seq such as Illumina TruSeq® RNA v2 kit use…”
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RNA-Seq Reveals Differences in Expressed Tumor Mutation Burden in Colorectal and Endometrial Cancers with and without Defective DNA-Mismatch Repair by DiGuardo, Margaret A., Davila, Jaime I., Jackson, Rory A., Nair, Asha A., Fadra, Numrah, Minn, Kay T., Atiq, Mazen A., Zarei, Shabnam, Blommel, Joseph H., Knight, Shannon M., Jen, Jin, Eckloff, Bruce W., Voss, Jesse S., Rumilla, Kandelaria M., Kerr, Sarah E., Lam-Himlin, Dora M., Bellizzi, Andrew M., Graham, Rondell P., Kipp, Benjamin R., Jenkins, Robert B., Halling, Kevin C.

“…Tumor mutation burden (TMB) is an emerging biomarker of immunotherapy response. RNA sequencing in FFPE tissue samples was used for determining TMB in…”
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NCCTG N0879 (Alliance): A randomized phase 2 cooperative group trial of carboplatin, paclitaxel, and bevacizumab ± everolimus for metastatic melanoma by McWilliams, Robert R., Allred, Jacob B., Slostad, Jessica A., Katipamula, Rajini, Dronca, Roxana S., Rumilla, Kandelaria M., Erickson, Lori A., Bryce, Alan H., Joseph, Richard W., Kottschade, Lisa A., King, David M., Leitch, John M., Markovic, Svetomir N.

“…BACKGROUND Despite the success of immune checkpoint and targeted therapy, many patients with melanoma ultimately require further treatment. The combination of…”
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Experience with precision genomics and tumor board, indicates frequent target identification, but barriers to delivery by Bryce, Alan H, Egan, Jan B, Borad, Mitesh J, Stewart, A Keith, Nowakowski, Grzegorz S, Chanan-Khan, Asher, Patnaik, Mrinal M, Ansell, Stephen M, Banck, Michaela S, Robinson, Steven I, Mansfield, Aaron S, Klee, Eric W, Oliver, Gavin R, McCormick, Jennifer B, Huneke, Norine E, Tagtow, Colleen M, Jenkins, Robert B, Rumilla, Kandelaria M, Kerr, Sarah E, Kocher, Jean-Pierre A, Beck, Scott A, Fernandez-Zapico, Martin E, Farrugia, Gianrico, Lazaridis, Konstantinos N, McWilliams, Robert R

“…The ability to analyze the genomics of malignancies has opened up new possibilities for off-label targeted therapy in cancers that are refractory to standard…”
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