Scholars@Duke

• Background
• 

  Education, Training, & Certifications

  • Clinical Cytogenetics and Clinical Molecular Genetics Certification, American Board of Medical Genetics and Genomics 2007 - 2017
  • Postdoctoral Associate, Clinical Cytogenetics and Clinical Molecular Genetics, Pathology, Duke University School of Medicine 2004 - 2007
  • Ph.D., Virginia Commonwealth University 2004
  • B.A., North Carolina State University 1999
• 

  Previous Appointments & Affiliations

  • Associate Professor of Pathology, Pathology, Clinical Science Departments 2019 - 2020
  • Assistant Professor of Pathology, Pathology, Clinical Science Departments 2007 - 2019
• Research
• 

  Selected Grants

  • Newborn Screening Pilot Studies IDIQ with TO B, MPS II awarded by Research Triangle Institute International 2021 - 2023
  • RTI-TO2-Newborn Screening Pilot Study for Adrenoleukodystrophy (ALD) awarded by Research Triangle Institute International 2016 - 2018
• 

  External Relationships

  • Alexion Pharmaceuticals, Inc.
  • Amicus Therapeutics
  • Illumina
  • Research Triangle Institute (aka RTI International)
• Publications & Artistic Works
• 

  Selected Publications

  • Academic Articles

    • Zhao, Yue, Jenna McCracken, Catherine Rehder, and Endi Wang. “Chronic Lymphocytic Leukemia/Small Lymphocytic Lymphoma With Secondary Acquisition of t(11;14)(q13;q32)/CCND1-IGH: A Rare Variant Of Richter Transformation to Mantle Cell Lymphoma.” Clin Lymphoma Myeloma Leuk 22, no. 5 (May 2022): e310–13. https://doi.org/10.1016/j.clml.2021.10.017.
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    • Migliore, B. A., L. Zhou, M. Duparc, V. R. Robles, C. W. Rehder, H. L. Peay, and K. S. Kucera. “Evaluation of the GSP Creatine Kinase-MM Assay and Assessment of CK-MM Stability in Newborn, Patient, and Contrived Dried Blood Spots for Newborn Screening for Duchenne Muscular Dystrophy.” International Journal of Neonatal Screening 8, no. 1 (March 1, 2022). https://doi.org/10.3390/ijns8010012.
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    • Gonzales, Patrick R., Erica F. Andersen, Teneille R. Brown, Vanessa L. Horner, Juli Horwitz, Catherine W. Rehder, Natasha L. Rudy, Nathaniel H. Robin, Erik C. Thorland, and Erik C. On Behalf Of The Acmg Laboratory Quality Assurance Committee. “Interpretation and reporting of large regions of homozygosity and suspected consanguinity/uniparental disomy, 2021 revision: A technical standard of the American College of Medical Genetics and Genomics (ACMG).” Genet Med 24, no. 2 (February 2022): 255–61. https://doi.org/10.1016/j.gim.2021.10.004.
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    • Zhao, Yue, Jenna McCracken, Catherine Rehder, and Endi Wang. “Chronic lymphocytic leukemia with t(6;14) (p21;q32) CCND3-IGH: CCND3 rearrangement does not necessarily define a cyclin D1-negative mantle cell lymphoma.” Hematol Oncol 40, no. 1 (February 2022): 111–14. https://doi.org/10.1002/hon.2930.
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    • Tokatly Latzer, Itay, Liora Sagi, Deeksha Sarihyan Bali, Catherine Rehder, Rotem Orbach, and Aviva Fattal-Valevski. “Variable Genotype-Phenotype Correlation of Pompe's Disease Caused by a c.2015 G > A (p.Arg672Gln) Mutation in the GAA Gene.” Neuropediatrics 52, no. 6 (December 2021): 475–79. https://doi.org/10.1055/s-0040-1722680.
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    • Zhao, Yue, Catherine Rehder, and Endi Wang. “Circulating blastoid cells: acute leukemia, prolymphocytic leukemia, or something else?” Ann Hematol 100, no. 12 (December 2021): 3047–48. https://doi.org/10.1007/s00277-020-04270-5.
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    • Liu, Xin, Yue Zhao, Catherine Luedke, Rachel Jug, Lian-He Yang, Mark Lu, Zenggang Pan, et al. “Infantile leukemia-What factors determine its distinct biological nature? Clinicopathological study of 78 cases.” Int J Lab Hematol 43, no. 5 (October 2021): 1117–22. https://doi.org/10.1111/ijlh.13540.
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    • Ezekian, Jordan E., Catherine Rehder, Priya S. Kishnani, and Andrew P. Landstrom. “Interpretation of Incidental Genetic Findings Localizing to Genes Associated With Cardiac Channelopathies and Cardiomyopathies.” Circ Genom Precis Med 14, no. 4 (August 2021): e003200. https://doi.org/10.1161/CIRCGEN.120.003200.
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    • Rehder, Catherine, Lora J. H. Bean, David Bick, Elizabeth Chao, Wendy Chung, Soma Das, Julianne O’Daniel, et al. “Next-generation sequencing for constitutional variants in the clinical laboratory, 2021 revision: a technical standard of the American College of Medical Genetics and Genomics (ACMG).” Genet Med 23, no. 8 (August 2021): 1399–1415. https://doi.org/10.1038/s41436-021-01139-4.
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    • Cope, Heidi, Hayk Barseghyan, Surajit Bhattacharya, Yulong Fu, Nicole Hoppman, Cherisse Marcou, Nicole Walley, et al. “Detection of a mosaic CDKL5 deletion and inversion by optical genome mapping ends an exhaustive diagnostic odyssey.” Mol Genet Genomic Med 9, no. 7 (July 2021): e1665. https://doi.org/10.1002/mgg3.1665.
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    • Zhao, Yue, Jenna McCracken, Catherine Rehder, and Endi Wang. “Biclonal evolution of chronic lymphocytic leukaemia.” Br J Haematol 194, no. 2 (July 2021): e64–66. https://doi.org/10.1111/bjh.17543.
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    • Lewis, Sarah S., Becky A. Smith, Ibukunoluwa C. Akinboyo, Jessica Seidelman, Cameron Wolfe, Allan B. Kirk, Gavin Martin, et al. “Early experience with universal preprocedural testing for SARS-CoV-2 in a relatively low-prevalence area.” Infect Control Hosp Epidemiol 42, no. 3 (March 2021): 341–43. https://doi.org/10.1017/ice.2020.398.
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    • Zhao, Yue, Catherine Rehder, and Endi Wang. “Pseudo-Pelger-Huët anomaly in a 58-year-old woman treated with mycophenolate mofetil for flare of systemic lupus erythematosus.” Int J Lab Hematol 43, no. 1 (February 2021): 3–4. https://doi.org/10.1111/ijlh.13394.
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    • Larson, Daniel P., Yassmine M. Akkari, Daniel L. Van Dyke, Gordana Raca, Juli-Anne Gardner, Catherine W. Rehder, Kathleen A. Kaiser-Rogers, et al. “Conventional Cytogenetic Analysis of Hematologic Neoplasms: A 20-Year Review of Proficiency Test Results From the College of American Pathologists/American College of Medical Genetics and Genomics Cytogenetics Committee.” Arch Pathol Lab Med 145, no. 2 (February 1, 2021): 176–90. https://doi.org/10.5858/arpa.2020-0089-CP.
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    • Kucera, K. S., J. L. Taylor, V. R. Robles, K. Clinard, B. Migliore, B. L. Boyea, K. C. Okoniewski, et al. “A voluntary statewide newborn screening pilot for spinal muscular atrophy: Results from early check.” International Journal of Neonatal Screening 7, no. 1 (January 1, 2021). https://doi.org/10.3390/ijns7010020.
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    • Polage, Christopher R., Mark J. Lee, Christopher Hubbard, Catherine Rehder, Diana Cardona, Thomas Denny, and Michael B. Datto. “Assessment of an Online Tool to Simulate the Effect of Pooled Testing for SARS-CoV-2 Detection in Asymptomatic and Symptomatic Populations.” Jama Netw Open 3, no. 12 (December 1, 2020): e2031517. https://doi.org/10.1001/jamanetworkopen.2020.31517.
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    • Stiles, Ashlee R., Haoyue Zhang, Jian Dai, Patricia McCaw, James Beasley, Catherine Rehder, Dwight D. Koeberl, Marie McDonald, Deeksha S. Bali, and Sarah P. Young. “A comprehensive testing algorithm for the diagnosis of Fabry disease in males and females.” Mol Genet Metab 130, no. 3 (July 2020): 209–14. https://doi.org/10.1016/j.ymgme.2020.04.006.
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    • Lee, Stacey, Kristin Clinard, Sarah P. Young, Catherine W. Rehder, Zheng Fan, Ali S. Calikoglu, Deeksha S. Bali, et al. “Evaluation of X-Linked Adrenoleukodystrophy Newborn Screening in North Carolina.” Jama Netw Open 3, no. 1 (January 3, 2020): e1920356. https://doi.org/10.1001/jamanetworkopen.2019.20356.
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    • 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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    • Zhao, Yue, Jake Maule, Yang Li, Jadee Neff, Chad M. McCall, Tie Hao, Weihong Yang, Catherine Rehder, Lian-He Yang, and Endi Wang. “Sequential development of human herpes virus 8-positive diffuse large B-cell lymphoma and chronic myelomonocytic leukemia in a 59 year old female patient with hemoglobin SC disease.” Pathol Res Pract 215, no. 12 (December 2019): 152704. https://doi.org/10.1016/j.prp.2019.152704.
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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): 596. 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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    • 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.” Genetics in Medicine 17, no. 11 (2015): 912–18. https://doi.org/10.1038/gim.2015.6.
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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): 1040. 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): 58. 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): 754. 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): e67052. 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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    • 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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    • 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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    • 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.” Am J Clin Pathol 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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