Scholars@Duke

• Background
• 

  Education, Training, & Certifications

  • Ph.D., Virginia Commonwealth University 2004
  • B.A., North Carolina State University 1999
  • Resident Advisor, Ncsu University Housing, North Carolina State University 1996 - 1998
  • Laboratory Assistant, Plant Pathology, North Carolina State University 1996
• 

  Duke Appointment History

  • Assistant Professor of Pathology, Pathology, Clinical Science Departments 2007 - 2019
• Research
• 

  Selected Grants

  • An integrated and diverse genomic medicine program for undiagnosed diseases awarded by National Institutes of Health 2014 - 2022
  • Collaborative Innovation Award, CTSA Program 2016 - 2020
  • RTI-TO2-Newborn Screening Pilot Study for Adrenoleukodystrophy (ALD) 2016 - 2018
• 

  Industry Relationships

  • Illumina
• Publications & Artistic Works
• 

  Selected Publications

  • Academic Articles

    • Gupta, Neerja, Zoheb B. Kazi, Sheela Nampoothiri, Sujatha Jagdeesh, Madhulika Kabra, Ratna Dua Puri, Mamta Muranjan, et al. “Clinical and Molecular Disease Spectrum and Outcomes in Patients with Infantile-Onset Pompe Disease..” J Pediatr 216 (January 2020): 44-50.e5. https://doi.org/10.1016/j.jpeds.2019.08.058.
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    • Taylor, Jennifer L., Kristin Clinard, Cynthia M. Powell, Catherine Rehder, Sarah P. Young, Deeksha Bali, Sara E. Beckloff, et al. “The North Carolina Experience with Mucopolysaccharidosis Type I Newborn Screening..” J Pediatr 211 (August 2019): 193-200.e2. https://doi.org/10.1016/j.jpeds.2019.04.027.
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    • Deignan, Joshua L., Wendy K. Chung, Hutton M. Kearney, Kristin G. Monaghan, Catherine W. Rehder, Elizabeth C. Chao, and Elizabeth C. ACMG Laboratory Quality AssuranceCommittee. “Points to consider in the reevaluation and reanalysis of genomic test results: a statement of the American College of Medical Genetics and Genomics (ACMG)..” Genet Med 21, no. 6 (June 2019): 1267–70. https://doi.org/10.1038/s41436-019-0478-1.
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    • Jauhari, Prashant, Arushi Gahlot Saini, Renu Suthar, Naveen Sankhyan, Catherine Rehder, Priya Kishnani, Neerja Gupta, Madhulika Kabra, and Pratibha Singhi. “Thenar Hypertrophy and Electrical Myotonia in Pompe Disease..” J Clin Neuromuscul Dis 20, no. 3 (March 2019): 135–37. https://doi.org/10.1097/CND.0000000000000195.
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    • Mori, Mari, Gloria Haskell, Zoheb Kazi, Xiaolin Zhu, Stephanie M. DeArmey, Jennifer L. Goldstein, Deeksha Bali, Catherine Rehder, Elizabeth T. Cirulli, and Priya S. Kishnani. “Sensitivity of whole exome sequencing in detecting infantile- and late-onset Pompe disease..” Mol Genet Metab 122, no. 4 (December 2017): 189–97. https://doi.org/10.1016/j.ymgme.2017.10.008.
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    • Griffin, Nicole G., Kenneth D. Cronin, Nicole M. Walley, Christine M. Hulette, Gerald A. Grant, Mohamad A. Mikati, Heather G. LaBreche, et al. “Somatic uniparental disomy of Chromosome 16p in hemimegalencephaly..” Cold Spring Harb Mol Case Stud 3, no. 5 (September 2017). https://doi.org/10.1101/mcs.a001735.
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    • Wu, Bin, Rachel Jug, Catherine Luedke, Pu Su, Catherine Rehder, Chad McCall, Anand S. Lagoo, and Endi Wang. “Lineage Switch Between B-Lymphoblastic Leukemia and Acute Myeloid Leukemia Intermediated by "Occult" Myelodysplastic Neoplasm: Two Cases of Adult Patients With Evidence of Genomic Instability and Clonal Selection by Chemotherapy..” Am J Clin Pathol 148, no. 2 (August 1, 2017): 136–47. https://doi.org/10.1093/ajcp/aqx055.
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    • Bali, Deeksha S., Jennifer L. Goldstein, Keri Fredrickson, Stephanie Austin, Surekha Pendyal, Catherine Rehder, and Priya S. Kishnani. “Clinical and Molecular Variability in Patients with PHKA2 Variants and Liver Phosphorylase b Kinase Deficiency..” Jimd Rep 37 (2017): 63–72. https://doi.org/10.1007/8904_2017_8.
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    • Mori, Mari, Lauren A. Bailey, Januario Estrada, Catherine W. Rehder, Jennifer S. Li, Joseph G. Rogers, Deeksha S. Bali, Anne F. Buckley, and Priya S. Kishnani. “Severe Cardiomyopathy as the Isolated Presenting Feature in an Adult with Late-Onset Pompe Disease: A Case Report..” Jimd Rep 31 (2017): 79–83. https://doi.org/10.1007/8904_2016_563.
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    • Wu, Bin, Kimberly Ingersoll, Catherine Rehder, and Endi Wang. “B-lymphoblastic leukemia in a patient with chronic lymphocytic leukemia: Sequential development of biclonal B-cell neoplasms over a 23-year period in a single individual..” Pathol Res Pract 212, no. 11 (November 2016): 1089–93. https://doi.org/10.1016/j.prp.2016.09.013.
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    • Wu, Bin, Bethany Vallangeon, Jonathan Galeotti, Siby Sebastian, Catherine Rehder, and Endi Wang. “Epstein-Barr virus-negative diffuse large B cell lymphoma with aberrant expression of CD3 and other T cell-associated antigens: report of three cases with a review of the literature..” Ann Hematol 95, no. 10 (October 2016): 1671–83. https://doi.org/10.1007/s00277-016-2749-0.
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    • Xu, Qiong, Jennifer Goldstein, Ping Wang, Inder K. Gadi, Heather Labreche, Catherine Rehder, Wei-Ping Wang, Allyn McConkie, Xiu Xu, and Yong-Hui Jiang. “Chromosomal microarray analysis in clinical evaluation of neurodevelopmental disorders-reporting a novel deletion of SETDB1 and illustration of counseling challenge..” Pediatr Res 80, no. 3 (September 2016): 371–81. https://doi.org/10.1038/pr.2016.101.
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    • Wu, Bin, Kimberly Ingersoll, Catherine Rehder, Siby Sebastian, and Endi Wang. “Sequential development of chronic myelogenous leukemia and primary myelofibrosis in a patient with history of large B-cell lymphoma treated with radiotherapy and chemotherapy: two myeloid neoplasms with distinct genotypic profiles suggestive of biclonality in a single individual..” Ann Hematol 95, no. 8 (August 2016): 1383–86. https://doi.org/10.1007/s00277-016-2707-x.
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    • Shashi, V., A. McConkie-Rosell, K. Schoch, V. Kasturi, C. Rehder, Y. H. Jiang, D. B. Goldstein, and M. T. McDonald. “Practical considerations in the clinical application of whole-exome sequencing..” Clin Genet 89, no. 2 (February 2016): 173–81. https://doi.org/10.1111/cge.12569.
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    • Bali, Deeksha S., Jennifer L. Goldstein, Catherine Rehder, Zoheb B. Kazi, Kathryn L. Berrier, Jian Dai, and Priya S. Kishnani. “Clinical Laboratory Experience of Blood CRIM Testing in Infantile Pompe Disease..” Mol Genet Metab Rep 5 (December 1, 2015): 76–79. https://doi.org/10.1016/j.ymgmr.2015.10.012.
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    • Berrier, Kathryn L., Zoheb B. Kazi, Sean N. Prater, Deeksha S. Bali, Jennifer Goldstein, Mihaela C. Stefanescu, Catherine W. Rehder, et al. “CRIM-negative infantile Pompe disease: characterization of immune responses in patients treated with ERT monotherapy..” Genet Med 17, no. 11 (November 2015): 912–18. https://doi.org/10.1038/gim.2015.6.
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    • Berrier, Kathryn L., Zoheb B. Kazi, Sean N. Prater, Deeksha S. Bali, Jennifer Goldstein, Mihaela C. Stefanescu, Catherine W. Rehder, et al. “CORRIGENDUM: CRIM-negative infantile Pompe disease: characterization of immune responses in patients treated with ERT monotherapy..” Genet Med 17, no. 7 (July 2015). https://doi.org/10.1038/gim.2015.57.
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    • Puranam, Ram S., Xiao Ping He, Lijun Yao, Tri Le, Wonjo Jang, Catherine W. Rehder, Darrell V. Lewis, and James O. McNamara. “Disruption of Fgf13 causes synaptic excitatory-inhibitory imbalance and genetic epilepsy and febrile seizures plus..” J Neurosci 35, no. 23 (June 10, 2015): 8866–81. https://doi.org/10.1523/JNEUROSCI.3470-14.2015.
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    • Wei, Qiang, Paulie Papavassiliou, Catherine Rehder, Siby Sebastian, and Endi Wang. “T-cell prolymphocytic leukemia in a 63-year-old female with a pre-existing T-cell large granular lymphocytic leukemia: metachronous T-cell leukemias with discordant subset restrictions (CD4 versus CD8) and distinct clonal identities..” Pathol Res Pract 210, no. 12 (December 2014): 1100–1105. https://doi.org/10.1016/j.prp.2014.08.005.
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    • Wei, Qiang, Siby Sebastian, Paulie Papavassiliou, Catherine Rehder, and Endi Wang. “Metachronous/concomitant B-cell neoplasms with discordant light-chain or heavy-chain isotype restrictions: evidence of distinct B-cell neoplasms rather than clonal evolutions..” Hum Pathol 45, no. 10 (October 2014): 2063–76. https://doi.org/10.1016/j.humpath.2014.06.021.
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    • Cooper, G. M., B. P. Coe, S. Girirajan, J. A. Rosenfeld, T. H. Vu, C. Baker, C. Williams, et al. “Corrigendum: A copy number variation morbidity map of developmental delay..” Nat Genet 46, no. 9 (August 27, 2014). https://doi.org/10.1038/ng0914-1040a.
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    • Holder, J Lloyd, Satish Agadi, William Reese, Catherine Rehder, and Michael M. Quach. “Infantile spasms and hyperekplexia associated with isolated sulfite oxidase deficiency..” Jama Neurol 71, no. 6 (June 2014): 782–84. https://doi.org/10.1001/jamaneurol.2013.5083.
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    • Goldstein, Jennifer L., Gwen Dickerson, Priya S. Kishnani, Catherine Rehder, and Deeksha S. Bali. “Blood-based diagnostic testing for Pompe disease: consistency between GAA enzyme activity in dried blood spots and GAA gene sequencing results..” Muscle Nerve 49, no. 5 (May 2014): 775–76. https://doi.org/10.1002/mus.24149.
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    • Wang, Endi, Paulie Papavassiliou, Alun R. Wang, Abner Louissaint, Jun Wang, Charles Blake Hutchinson, Qin Huang, et al. “Composite lymphoid neoplasm of B-cell and T-cell origins: a pathologic study of 14 cases..” Hum Pathol 45, no. 4 (April 2014): 768–84. https://doi.org/10.1016/j.humpath.2013.11.008.
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    • Bali, Deeksha S., Jennifer L. Goldstein, Keri Fredrickson, Catherine Rehder, Anne Boney, Stephanie Austin, David A. Weinstein, Richard Lutz, Avihu Boneh, and Priya S. Kishnani. “Variability of disease spectrum in children with liver phosphorylase kinase deficiency caused by mutations in the PHKG2 gene..” Mol Genet Metab 111, no. 3 (March 2014): 309–13. https://doi.org/10.1016/j.ymgme.2013.12.008.
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    • Haga, Susanne B., Rachel Mills, Kathryn I. Pollak, Catherine Rehder, Adam H. Buchanan, Isaac M. Lipkus, Jennifer H. Crow, and Michael Datto. “Developing patient-friendly genetic and genomic test reports: formats to promote patient engagement and understanding..” Genome Med 6, no. 7 (2014). https://doi.org/10.1186/s13073-014-0058-6.
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    • Sund, Kristen Lipscomb, and Catherine Weaver Rehder. “Detection and reporting of homozygosity associated with consanguinity in the clinical laboratory..” Hum Hered 77, no. 1–4 (2014): 217–24. https://doi.org/10.1159/000362448.
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    • Rehder, Catherine W., Karen L. David, Betsy Hirsch, Helga V. Toriello, Carolyn M. Wilson, and Hutton M. Kearney. “Response to Rosenberg et al..” Genet Med 15, no. 9 (September 2013). https://doi.org/10.1038/gim.2013.107.
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    • Rehder, Catherine W., Karen L. David, Betsy Hirsch, Helga V. Toriello, Carolyn M. Wilson, and Hutton M. Kearney. “American College of Medical Genetics and Genomics: standards and guidelines for documenting suspected consanguinity as an incidental finding of genomic testing..” Genet Med 15, no. 2 (February 2013): 150–52. https://doi.org/10.1038/gim.2012.169.
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    • Banugaria, Suhrad G., Sean N. Prater, Trusha T. Patel, Stephanie M. Dearmey, Christie Milleson, Kathryn B. Sheets, Deeksha S. Bali, et al. “Algorithm for the early diagnosis and treatment of patients with cross reactive immunologic material-negative classic infantile pompe disease: a step towards improving the efficacy of ERT..” Plos One 8, no. 6 (2013). https://doi.org/10.1371/journal.pone.0067052.
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    • Wang, Endi, Maggie Stoecker, James Burchette, and Catherine Rehder. “Follicular lymphoma with prominent Dutcher body formation: a pathologic study of 3 cases in comparison with nodal or splenic lymphoplasmacytic lymphoma and marginal zone lymphoma..” Hum Pathol 43, no. 11 (November 2012): 2001–11. https://doi.org/10.1016/j.humpath.2012.02.009.
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    • Landi, Daniel, Evelyn Lockhart, Sara E. Miller, Michael Datto, Catherine Rehder, Angela Kanaly, and Courtney D. Thornburg. “Report of a young girl with MYH9 mutation and review of the literature..” J Pediatr Hematol Oncol 34, no. 7 (October 2012): 538–40. https://doi.org/10.1097/MPH.0b013e3182678fc9.
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    • Bali, Deeksha S., Jennifer L. Goldstein, Suhrad Banugaria, Jian Dai, Joanne Mackey, Catherine Rehder, and Priya S. Kishnani. “Predicting cross-reactive immunological material (CRIM) status in Pompe disease using GAA mutations: lessons learned from 10 years of clinical laboratory testing experience..” Am J Med Genet C Semin Med Genet 160C, no. 1 (February 15, 2012): 40–49. https://doi.org/10.1002/ajmg.c.31319.
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    • Young, Sarah P., Monique Piraud, Jennifer L. Goldstein, Haoyue Zhang, Catherine Rehder, Pascal Laforet, Priya S. Kishnani, David S. Millington, Mustafa R. Bashir, and Deeksha S. Bali. “Assessing disease severity in Pompe disease: the roles of a urinary glucose tetrasaccharide biomarker and imaging techniques..” Am J Med Genet C Semin Med Genet 160C, no. 1 (February 15, 2012): 50–58. https://doi.org/10.1002/ajmg.c.31320.
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    • Lanasa, Mark C., Patricia H. Davis, Michael Datto, Zhiguo Li, Jon P. Gockerman, Joseph O. Moore, Carlos M. DeCastro, et al. “Phase II study of cenersen, an antisense inhibitor of p53, in combination with fludarabine, cyclophosphamide and rituximab for high-risk chronic lymphocytic leukemia..” Leuk Lymphoma 53, no. 2 (February 2012): 218–24. https://doi.org/10.3109/10428194.2011.610012.
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    • Achouitar, Samira, Jennifer L. Goldstein, Miski Mohamed, Stephanie Austin, Keri Boyette, Francoise M. Blanpain, Catherine W. Rehder, et al. “Common mutation in the PHKA2 gene with variable phenotype in patients with liver phosphorylase b kinase deficiency..” Mol Genet Metab 104, no. 4 (December 2011): 691–94. https://doi.org/10.1016/j.ymgme.2011.08.021.
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    • Deak, Kristen L., Sarah R. Horn, and Catherine W. Rehder. “The evolving picture of microdeletion/microduplication syndromes in the age of microarray analysis: variable expressivity and genomic complexity..” Clin Lab Med 31, no. 4 (December 2011): 543–viii. https://doi.org/10.1016/j.cll.2011.08.008.
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    • Prajnya, R., C. Rehder, S. R. Phadke, and D. Bali. “Prenatal diagnosis of Pompe disease: enzyme assay or molecular testing?.” Indian Pediatr 48, no. 11 (November 11, 2011): 901–2. https://doi.org/10.1007/s13312-011-0130-x.
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    • Wang, Endi, John Papalas, Imran Siddiqi, Maggie Stoecker, Catherine Rehder, Siby Sebastain, Jim Burchette, and Qin Huang. “A small cell variant of ALK-positive, CD8-positive anaplastic large cell lymphoma with primary subcutaneous presentation mimicking subcutaneous panniculitis-like T-cell lymphoma..” Pathol Res Pract 207, no. 8 (August 15, 2011): 522–26. https://doi.org/10.1016/j.prp.2011.06.002.
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    • Cooper, Gregory M., Bradley P. Coe, Santhosh Girirajan, Jill A. Rosenfeld, Tiffany H. Vu, Carl Baker, Charles Williams, et al. “A copy number variation morbidity map of developmental delay..” Nat Genet 43, no. 9 (August 14, 2011): 838–46. https://doi.org/10.1038/ng.909.
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    • Wang, Endi, Charles Blake Hutchinson, Qin Huang, Chuanyi Mark Lu, Jennifer Crow, Frances F. Wang, Siby Sebastian, et al. “Donor cell-derived leukemias/myelodysplastic neoplasms in allogeneic hematopoietic stem cell transplant recipients: a clinicopathologic study of 10 cases and a comprehensive review of the literature..” American Journal of Clinical Pathology 135, no. 4 (April 2011): 525–40. https://doi.org/10.1309/ajcppjuq9dnr1ghp.
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    • Wang, Endi, John Papalas, Charles Blake Hutchinson, Evan Kulbacki, Qin Huang, Siby Sebastian, Catherine Rehder, Damian Silbermins, Joseph Moore, and Michael Datto. “Sequential development of histiocytic sarcoma and diffuse large b-cell lymphoma in a patient with a remote history of follicular lymphoma with genotypic evidence of a clonal relationship: a divergent (bilineal) neoplastic transformation of an indolent B-cell lymphoma in a single individual..” Am J Surg Pathol 35, no. 3 (March 2011): 457–63. https://doi.org/10.1097/PAS.0b013e3182098799.
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    • Wang, Endi, Elizabeth Boswell, Imran Siddiqi, Chuanyi Mark Lu, Siby Sebastian, Catherine Rehder, and Qin Huang. “Pseudo-Pelger-Huët anomaly induced by medications: a clinicopathologic study in comparison with myelodysplastic syndrome-related pseudo-Pelger-Huët anomaly..” Am J Clin Pathol 135, no. 2 (February 2011): 291–303. https://doi.org/10.1309/AJCPVFY95MAOBKRS.
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    • Crow, Jennifer, Kenneth Youens, Susan Michalowski, Gail Perrine, Cassandra Emhart, Felicia Johnson, Amy Gerling, et al. “Donor cell leukemia in umbilical cord blood transplant patients: a case study and literature review highlighting the importance of molecular engraftment analysis..” J Mol Diagn 12, no. 4 (July 2010): 530–37. https://doi.org/10.2353/jmoldx.2010.090215.
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    • Goldstein, Jennifer L., Stephanie L. Austin, Keri Boyette, Angela Kanaly, Aravind Veerapandiyan, Catherine Rehder, Priya S. Kishnani, and Deeksha S. Bali. “Molecular analysis of the AGL gene: identification of 25 novel mutations and evidence of genetic heterogeneity in patients with Glycogen Storage Disease Type III..” Genet Med 12, no. 7 (July 2010): 424–30. https://doi.org/10.1097/GIM.0b013e3181d94eaa.
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    • Wang, Endi, and Evan Kulbacki. “Pseudo-Pelger-Huët anomaly induced by transplant medications..” Int J Hematol 92, no. 1 (July 2010): 1–2. https://doi.org/10.1007/s12185-010-0625-6.
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    • Wang, Endi, Charles Blake Hutchinson, Qin Huang, Siby Sebastian, Catherine Rehder, Angela Kanaly, Joseph Moore, and Michael Datto. “Histiocytic sarcoma arising in indolent small B-cell lymphoma: report of two cases with molecular/genetic evidence suggestive of a 'transdifferentiation' during the clonal evolution..” Leuk Lymphoma 51, no. 5 (May 2010): 802–12. https://doi.org/10.3109/10428191003699845.
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    • Kulbacki, Evan, Catherine Rehder, and Endi Wang. “Prominent Dutcher body formation in a case of follicular lymphoma with BCL6 gene rearrangement and intact BCL2 gene..” Am J Hematol 85, no. 3 (March 2010): 218–19. https://doi.org/10.1002/ajh.21612.
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    • Weinberg, J Brice, Alicia D. Volkheimer, Youwei Chen, Bethany E. Beasley, Ning Jiang, Mark C. Lanasa, Daphne Friedman, et al. “Clinical and molecular predictors of disease severity and survival in chronic lymphocytic leukemia..” Am J Hematol 82, no. 12 (December 2007): 1063–70. https://doi.org/10.1002/ajh.20987.
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    • Poss, Alexis F., Paula C. Goldenberg, Catherine W. Rehder, Hutton M. Kearney, Elizabeth C. Melvin, Dwight D. Koeberl, and Marie T. McDonald. “Clinical experience with array CGH: case presentations from nine months of practice..” Am J Med Genet A 140, no. 19 (October 1, 2006): 2050–56. https://doi.org/10.1002/ajmg.a.31417.
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    • Gong, Jerald Z., Michael G. Bayerl, Linda M. Sandhaus, Siby Sebastian, Catherine W. Rehder, Mark Routbort, Anand S. Lagoo, et al. “Posttransplant lymphoproliferative disorder after umbilical cord blood transplantation in children..” Am J Surg Pathol 30, no. 3 (March 2006): 328–36. https://doi.org/10.1097/01.pas.0000188030.63706.e7.
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    • Gong, J. Z., M. G. Bayerl, L. M. Sandhaus, S. Sebastian, C. W. Rehder, M. Routbort, A. S. Lagoo, et al. “Posttransplant lymphoproliferative disorder after umbilical cord blood transplantation in children.” American Journal of Surgical Pathology 30, no. 3 (2006): 328–36. https://doi.org/10.1016/j.jallcom.2005.10.007.
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    • Leach, Natalia T., Catherine Rehder, Keith Jensen, Shawn Holt, and Colleen Jackson-Cook. “Human chromosomes with shorter telomeres and large heterochromatin regions have a higher frequency of acquired somatic cell aneuploidy..” Mech Ageing Dev 125, no. 8 (August 2004): 563–73. https://doi.org/10.1016/j.mad.2004.06.006.
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    • Elmore, Lynne W., Catherine W. Rehder, Xu Di, Patricia A. McChesney, Colleen K. Jackson-Cook, David A. Gewirtz, and Shawn E. Holt. “Adriamycin-induced senescence in breast tumor cells involves functional p53 and telomere dysfunction..” J Biol Chem 277, no. 38 (September 20, 2002): 35509–15. https://doi.org/10.1074/jbc.M205477200.
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  • Conference Papers

    • Wu, Bin, Kimberly Ingersoll, Rachel Jug, Lian-He Yang, Catherine Luedke, Amanda Lo, Pu Su, et al. “Myeloid Neoplasms Following Solid Organ Transplantation: Clinicopathologic Studies of 23 Cases..” In Am J Clin Pathol, 149:55–66, 2017. https://doi.org/10.1093/ajcp/aqx133.
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