CLIA Molecular Diagnostics Laboratory

• Thermo Fisher Scientific SeqStudio 24 Flex Genetic Analyzer
• Illumina NovaSeq6000 Sequencing System
• Illumina MiSeqDx for Next-Generation Sequencing (NGS)
• Leica BondRx stainer for RNAScope assays
• Qiagen QIAcuity Digital PCR System
• Thermo Fisher QuantStudio for qPCR
• Illumina NextSeq2000 Sequencing System for Next-Generation Sequencing (NGS)
• BioRad QX200 for Droplet Digital PCR (ddPCR)
• Beckman FXp robotic liquid handler for automation
• Microm Microtome for sectioning formalin fixed paraffin embedded (FFPE) tissues
• Agilent 4200 Tape Station Automated Electrophoresis System

NIH Investigators may place a formal request for our lab's services at https://ncifrederick.cancer.gov/services/accessioning/Home/SignIn?ReturnUrl=%2fservices%2faccessioning%2f. Open to NIH investigators (outside of NCI) on a case-by-case basis.

• Circulating plasma EBV DNA: a potential tool to facilitate diagnosis of pediatric Burkitt lymphoma in sub-Saharan Africa. https://doi.org/10.1016/j.bglo.2025.100025. Karena Volesky-Avellaneda, Rena R. Xian, Todd B. Young, Ryan N. Baugher, Martin D. Ogwang, Patrick Kerchan, Steven J. Reynolds, Constance N. Tenge, Pamela A. Were, Robert T. Kuremu, Walter N. Wekesa, Nestory Masalu, Esther Kawira, Stephanie D. Mellott, Heidi E. Lawhorn, Kristen M. Pike, Jennifer Stone, Laura Walsh, Tobias Kinyera, Isaac Otim, Hadijah Nabalende, Herry Dhudha, Leona W. Ayers, Kishor Bhatia, James J. Goedert, Daniel R. Soppet, Stephen M. Hewitt, Hyokyoung G. Hong, Richard F. Ambinder, Sam M. Mbulaiteye. Blood Global Hematology 2025; 1 (3): 100025.
• Frameshift mutations in peripheral blood as a biomarker for surveillance of Lynch syndrome. https://doi.org/10.1093/jnci/djae060. Yurong Song, Holli Loomans-Kropp, Ryan N Baugher, Brandon Somerville, Shaneen S Baxter, Travis D Kerr, Teri M Plona, Stephanie D Mellott, Todd B Young, Heidi E Lawhorn, Lei Wei, Qiang Hu, Song Liu, Alan Hutson, Ligia Pinto, John D Potter, Shizuko Sei, Ozkan Gelincik, Steven M Lipkin, Johannes Gebert, Matthias Kloor, Robert H Shoemaker. JNCI: Journal of the National Cancer Institute, Volume 116, Issue 6, Pages 957u2013965. Published: 11 March 2024
• Organoids and metastatic orthotopic mouse model for mismatch repair-deficient colorectal cancer. https://doi.org/10.3389/fonc.2023.1223915. Yurong Song, Travis D. Kerr, Chelsea Sanders, Lisheng Dai, Shaneen S. Baxter, Brandon Somerville, Ryan N. Baugher, Stephanie D. Mellott, Todd B. Young, Heidi E. Lawhorn, Teri M. Plona, Bingfang Xu, Lei Wei, Qiang Hu, Song Liu, Alan Hutson, Baktiar Karim, Sandra Burkett, Simone Difilippantonio, Ligia Pinto, Johannes Gebert, Matthias Kloor, Steven M. Lipkin, Shizuko Sei and Robert H. Shoemaker. Frontiers in Oncology 2023, 13, 1-17. Published: 08 September 2023.
• Mesothelioma Mouse Models with Mixed Genomic States of Chromosome and Microsatellite Instability. https://doi.org/10.3390/cancers14133108. Yurong Song, Shaneen S. Baxter , Lisheng Dai, Chelsea Sanders, Sandra Burkett, Ryan N. Baugher , Stephanie D. Mellott, Todd B. Young, Heidi E. Lawhorn, Simone Difilippantonio, Baktiar Karim, Yuwaraj Kadariya, Ligia A. Pinto, Joseph R. Testa and Robert H. Shoemaker. Cancers 2022, 14, 3108. Published: 24 June 2022
• Kajal Biswas, Martin Couillard, Luca Cavallone, Sandra Burkett, Stacey Stauffer, Betty Martin, Eileen Southon, Susan Reid, Teri Plona, Ryan Baugher, Stephanie Mellott, Kristen Pike, Mary Albaugh, Chelsea Maedler-Kron, Nancy Hamel, Lino Tessarollo, Victoria Marcus, William Foulkes, and Shyam Sharan: A Novel Mouse Model of PMS2 Founder Mutation that Causes Mismatch Repair Defect Due to Aberrant Splicing. Cell Death & Disease, DOI 10.1038/s41419-021-04130-8 Paper #CDDIS-21-1697RR], September 6, 2021.
• Tristan M. Sissung, Roberto H. Barbier, Douglas K. Price, Teri M. Plona, Kristen M. Pike, Stephanie D. Mellott, Ryan N. Baugher, Gordon R. Whiteley, Daniel R. Soppet, David Venzon, Arlene Berman, Arun Rajan, Giuseppe Giaccone, Paul Meltzer, and William D. Figg: Comparison of Eight Technologies to Determine Genotype at the UGT1A1 (TA)n Repeat Polymorphism: Potential Clinical Consequences of Genotyping Errors? International Journal of Molecular Sciences, 2020.
• Tristan M. Sissung, Ph.D., M.S., Jon W McKeeby, D.Sc., Jharana Patel, PharmD, Juan J. Lertora, M.D., Ph.D., Parag Kumar, PharmD, Willy A Flegel, M.D., Sharon D. Adams, M.D., Ellen J Eckes, MSN, ARNP, FNP-BC, Frank Mickey, MBA, Teri M. Plona, BA, Stephanie D. Mellott, BS, Ryan N. Baugher, BA, Xiaolin Wu, PhD, Daniel R. Soppet, PhD, Mary E. Barcus, MD, Vivekananda Datta, MD, PhD, Kristen M. Pike, MS, Gary DiPatrizio, PharmD, William D. Figg, PharmD, MBA, and Barry R. Goldspiel, PharmD: PHARMACOGENOMICS IMPLEMENTATION AT THE NATIONAL INSTITUTES OF HEALTH CLINICAL CENTER. THE JOURNAL OF CLINICAL PHARMACOLOGY, 2017.
• Tychele N. Turner, Kamal Sharma, Edwin C. Oh, Yangfan P. Liu, Ryan L. Collins, Maria X. Sosa, Dallas R. Auer, Harrison Brand, Stephan J. Sanders, Daniel Moreno-De-Luca, Vasyl Pihur, Teri Plona, Kristen Pike, Daniel R. Soppet, Michael W. Smith, Sau Wai Cheung, Christa Lese Martin, Matthew W. State, Michael E. Talkowski, Edwin Cook, Richard Huganir, Nicholas Katsanis, and Aravinda Chakravarti: Loss of u03b4-catenin function in severe autism. Nature 520: 51-56, 2015.
• Zuoxiang Xiao, Qun Jiang, Jami Willette-Brown, Sichuan Xi, Feng Zhu, Sandra Burkett, Timothy Back, Na-Young Song, Mahesh Datla, Zhonghe Sun, Romina Goldszmid, Fanching Lin, Travis Cohoon, Kristen Pike, Xioalin Wu, David S. Schrump, Kwok-Kin Wong, Howard A. Young, Giorgio Trinchieri, Robert H. Wiltrout, and Yinling Hu: The Pivotal Role of IKKu03ac in the Development of Spontaneous Lung Squamous Cell Carcinomas. Cancer Cell 23: 527-540, 2013.
• Xiaohong R. Yang, Lea Jessop, Timothy Myers, Laufey Amundadottir, Ruth M. Pfeiffer, William Wheeler, Kristen M. Pike, Jeff Yuenger, Laurie Burdett, Meredith Yeager, Stephen J. Chanock, Margaret A. Tucker, Alisa M. Goldstein: Lack of Germline PALB2 mutations in melanoma-prone families with CDKN2A mutations and pancreatic cancer. Familial Cancer 10:545-548, 2011.
• Sharon A Savage, Neelam Giri, Lea Jessop, Kristen Pike, Teri Plona, Laurie Burdett, and Blanche P Alter: Sequence analysis of the shelterin telomere protection complex genes in dyskeratosis congenita. Journal of Medical Genetics 48: 285-288, 2011.
• Douglas B. Kuhns, W. Gregory Alvord, Theo Heller, Jordan J. Feld, Kristen M. Pike, Beatriz E. Marciano, Gulbu Uzel, Suk See DeRavin, Debra Long-Priel, Benjamin P. Soule, Kol A. Zarember, Harry L. Malech, Steven M. Holland, and John I. Gallin: Residual NADPH Oxidase and Survival in Chronic Granulomatous Disease. The New England Journal of Medicine 363: 2600-2610, 2010
• Porcia T Bradford, Alisa M Goldstein, Deborah Tamura, Sikander G Khan, Takahiro Ueda, Jennifer Boyle, Kyu-Seon Oh, Kyoko Imoto, Hiroki Inui, Shin-Ichi Moriwaki, Steffen Emmert, Kristen M Pike, Arati Raziuddin, Teri M Plona, John J DiGiovanna, Margaret A Tucker, Kenneth H Kraemer: Cancer and neurologic degeneration in xeroderma pigmentosum: long term follow-up characterizes the role of DNA repair. Journal of Medical Genetics 48: 168-176, 2010.
• Maria Concetia Fargnoli, Kris Pike, Ruth M. Pfeiffer, Shirley Tsang, Ester Rozenblum, David J. Munroe, Yelena Golubeva, Donato Calista, Stefania Seidenari, Daniela Massi, Paolo Carli, Juergen Bauer, David E. Elder, Boris C. Bastian, Ketty Peris, and Maria T. Landi: MC1R Variants Increase Risk of Melanomas Harboring BRAF Mutations. Journal of Investigative Dermatology 128: 2485-2490, 2008.
• Haines DC, Gorelick PL, Battles JK, Pike KM, Anderson RJ, Fox JG, Taylor NS, Shen Z, Dewhirst FE, Anver MR, Ward JM: Inflammatory large bowel disease in immunodeficient rats naturally and experimentally infected with Helicobacter bilis. Vet Pathol 35: 202-208, 1998.
• Battles JK, Williamson JC , Pike KM, Gorelick PL, Ward JM, Gonda MA: Diagnostic assay for Helicobacter hepaticus based on nucleotide sequence of its 16S rRNA gene. J Clin Microbiol 33: 1344-1347, 1995.