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Ying Zou, MD, PhD

Academic Title:

Associate Professor

Primary Appointment:


Administrative Title:

Interim Director, Translational Genomics Laboratory (TGL)

Additional Title:

Director, Clinical Cytogenetics Lab


BRB, 7-025

Phone (Primary):




Education and Training

1995     M.D. Peking University/Peking Union Medical College (PUMC), Beijing, China

2004     Ph.D. (Genetics and Development), University of Texas Southwestern Medical Center at Dallas, TX, U.S.A. Thesis (Jerry Shay, PhD & Woody Wright, MD, PhD, Advisors):  Telomere replication and recombination in normal and cancer cells.

2005 - 2007    Clinical Cytogenetics Fellow at Mayo Clinic (American Board of Medical Genetics and Genomics (ABMGG)-accredited) Dept. of Laboratory Medicine and Pathology, Mayo Clinic, MN 

2007 - 2008    Clinical Molecular Genetics Fellow (ABMGG-accredited). Center for Human Genetics, Boston University School of Medicine, Boston. U.S.A.


During my career as a clinical cytogeneticist and molecular geneticist, I am interested in the development of clinical cytogenomic and molecular genetics laboratory tests that can be used in the clinical setting for better patient cares, personalized medicine, as well as for discovering novel cancer biomarkers. I have been worked as a director of clinical diagnostic lab since 2007 and have been involved several clinical trials including Acute Myelogenous Leukemia treatments by Children’s Oncology group, classification of Lymphoma by Southwest Oncology group, classification of Acute Lymphoblast leukemia by Children’s Oncology group, cytogenetic studies in Acute Leukemia by the Cancer and Leukemia Group B, Cancer Trials Support Unit by National Cancer Institute, etc. I am also active in the training of residents and fellows in several training programs, as well as medical students and graduate students for clinical cytogenetics, molecular genetics, pharmacogenomics and personalized medicine. My research interests are centered on two main projects on the topic of (a) Telomere biology in human ageing and cancers, and (b) Cytogenomic and molecular abnormalities in cancer development and formation.

Highlighted Publications

1. Baur J., Zou Y., Shay J., Wright W (2001). Telomere position effect in human cells. Science 292: 2075 – 2077.                                                                                                                      

2. Zou Y., Wright W., Shay J., Cornforth M (2004). Asynchronous replication timing of telomeres at opposite arms of mammalian chromosomes. Proc. Nat. Acad. Sci. (USA) 101:12928-12933.                                                                                                                                                                                                                                                                            

3. Zou Y., Sfeir A., Gryaznov S., Shay J., Wright W (2004). Does a sentinel or a subset of short telomeres determine replicative senescence? Mol. Biol. Cell. 15: 3709-3718.                       

4. Zou Y., Misri S., Shay J., Pandita T., Wright W (2009). Altered states of telomere deprotection and the two-stage mechanism of replicative aging. Mol. Cell Biol. 29:2390-2397.                

5. Zhao Y, Sfeir AJ, Zou Y., Buseman CM, Chow TT, Shay JW, Wright WE (2009). Telomere extension occurs at most chromosome ends and is uncoupled from fill-in in human cancer cells. Cell, 138:463-475.                                                                                                                                                                                                                                                                   

6. Zou Y., Ouahchi K, Lu Y, Liu W, Christensen T, Schappert J, Saleki R (2012). Jumping translocations of 3q21 in an acute monocytic leukemia (M5) patient reveal mechanisms of multistage telomere shortening in pathogenesis of AML. Leukemia Res. 36:e31-33.                                                                                                                                                                    

7. Saleki R, Christensen T, Liu W, Wang X, Chen Q, Aakre M, Gomes N, Alexiev B, Schappert J, Baer M, Zou Y (2015). A novel TTC40-MSI2 fusion in de novo acute myeloid leukemia with an unbalanced 10;17 translocation. Leuk Lymphoma  56:1137-1139.


Additional Publication Citations

1. Zou Y. Development of diagnosis and therapy using mAb OC859 in ovarian cancer patients. Foreign Med. Sci.: Obstetrics and Gynecology 21:204-224, 1994.

2. Ford L., Zou Y., Shay J., Wright W. Telomerase can inhibit the recombination-based pathway of recombination-based pathway of telomere maintenance in human cells. J. Biol. Chem.276:32198-32203, 2001.

3. Zou Y., Yi X., Wright W., Shay J., Human telomerase can immortalize Indian muntjac cells. Exp. Cell Res. 281:63-76, 2002.

4. Wang P., Lee JW., Yu Y., Turner K., Zou Y., Jackson-Cook CK., Povirk LF. Gene rearrangements induced by the DNA double-strand cleaving agent neocarzinostation: conservative non-homologous reciprocal exchanges in an otherwise stable genome. Nuclei Acids Res. 30:2639-2646, 2002.

5. Steinert S., White D., Zou Y., Shay J., Wright W. Telomere biology and cellular aging in nonhuman primate cells. Exp. Cell Res. 272:146-152, 2002.

6. Ramirez R., Herbert B., Vaughan M., Zou Y., Wright W., Shay J. Bypass of telomere-dependent replicative senescence (M1) upon over-expression of CDK4 in normal human epithelial cells. Oncogene 22:433-444, 2003.

7. Jackson-Cook C., Zou Y., Turner K., Ware J. A novel tumorigenic human prostate epithelial cell Line (M2205): molecular cytogenetic characterization demonstrates c-myc amplification and jumping translocations. Cancer Genet. Cytogenet. 141:56-64, 2003.

8. Bechter O., Zou Y., Shay J., Wright W. Homologous recombination in human telomerase-positive and ALT cells occurs with the same frequency. EMBO Rep. 4:1138-1143, 2003.

9. Ramirez RD., Sheridan S., Girard L., Sato M., Kim Y., Pollack J., Zou Y., Kurie JM., Dimaio JM., Milchgrub S., Smith AL., Souza RF., Gilbey L., Zhang X., Gandia K., Vaughan MB., Gazdar AF., Shay JW., Minna JD. Immortalization of human bronchial epithelial cells in the absence of viral oncoproteins. Cancer Res. 64:9027-9034, 2004.

10. Bechter O., Zou Y., Wright W., Shay J. Telomeric recombination in mismatch repair deficient human colon cancer cells following telomerase inhibition. Cancer Res. 64: 3444-3451, 2004.

11. Zou Y., Van Dyke DL., Chhabra HS., Uphoff TS., Keefe JG., Lega MA., Feely MA., Thorland EC., Jalal SM. A case of mosaic ring 20 with no detectable deletion by FISH analysis: literature review and the etiology of the seizure disorder. Am. J. Med. Genet. 140A:1696-1706, 2006

12.  Merritt JL., Zou Y., Jalal SM., Michels VV. Delineation of the cryptic 1qter deletion phenotype. Am. J. Med. Genet.143A:599-603, 2007

13. Zou Y., McGrann PS., Uphoff TS., Van Dyke DL. A case of mosaic ring supernumerary marker chromosome 15 with two copies of the segment 15p11.1-q14 region. Am. J. Med. Genet. 140A:1663-1668, 2006

14. Zou Y., Fink S., Stockero K., Paternoster S., Smoley S., Tun H., Reeder CB., Tefferi A., Dewald GW. Efficacy of conventional cytogenetics and FISH for EGR1 to detect deletion 5q in hematological disorders and to assess response to treatment with Lenalidomide. Blood 108(11), 666a, 2006.

15. Liu Z., Widlak P., Zou Y., Xiao F., Oh M., Li S., Chang M., Shay J., Garrard W. A recombination silencer that specifies heterchromatin positioning and ikaros association in the immunoglobulin κ locus. Immunity 24:405-415, 2006

16. Van Dyke DL., Ebrahim SA., Al Saadi AA., Powell SA., Zenger-Hain JL., Micale MA., Wiktor AE., Zou Y. The impact of maternal serum screening programs for Down syndrome in southeast Michigan, 1988-2003. Prenat Diagn. 27(6):583-584, 2007.

17. Zou Y., Fink S., Stockero K., Paternoster S., Smoley S., Tun H., Reeder CB., Tefferi A., Dewald GW. Efficacy of conventional cytogenetics and FISH for EGR1 to detect deletion 5q in hematological disorders and to assess response to treatment with Lenalidomide. Leukemia Res. 31:1193-1197, 2007.

18. Zou Y., Van Dyke DL., Ellison JW. Microarray comparative genomic hybridization and FISH studies for unbalanced cryptic telomeric 2p deletion/16q duplication in a patient with mental retardation and behavioral problems. Am. J. Med. Genet. 143(7):746-751, 2007.

19. Milunsky JM., Maher TA, Zhao G., Huang XL., Wang Z., Zou Y. A re-examination of the chromosome 8p22-8p23.1 region in Kabuki syndrome. Clin Genet. 73:502-503, 2008.

20. Sarosi G, Brown G, Jaiswal K, Feagins LA, Lee E, Crook TW, Souza RF, Zou Y, Shay JW, Spechler SJ. Bone marrow progenitor cells contribute to esophageal regeneration and metaplasia in a rat model of Barrett's esophagus. Dis Esophagus. 21:43-50, 2008.

21. Hanson CA, Steensma DP, Hodnefield JM, Nguyen PL, Hoyer JD, Viswanatha DS, Zou Y, Knudson RA, Van Dyke DL, Ketterling RP. Am J Clin Pathol. 129:478-485, 2008.

22. Zhao Y, Sfeir AJ, Zou Y., Buseman CM, Chow TT, Shay JW, Wright WE. Telomere extension occurs at most chromosome ends and is uncoupled from fill-in in human cancer cells. Cell, 138:463-475, 2009.

23. Zou Y., Huang X., Newton S., Milunsky JM. Further delineation of the critical region for the 9p-duplication syndrome. Am. J. Med. Genet. 149A:272-276, 2009.

24. Barkley L, Song I, Zou Y., Vaziri C. Reduced expression of GINS complex members induces hallmarks of premalignancy in primary untransformed human cells. Cell cycle 8: 1577-1588, 2009.

25. Quadrelli R., Quadrelli A., Milunsky A., Zou Y., Huang X., Viera E., Mechoso B., Bellini S., Costabel M., Vaglio A. A 14-year follow-up of a case detected prenatally of partial trisomy 13q21.32-qter and monosomy 18q22.3-qter as a result of a maternal complex chromosome rearrangement involving chromosome 6;13;18. Genet. Test Mol. Biomarkers 13:387-393, 2009.

26. Lee J., Yang S., Zou Y., Joseph L. The first case of erythroid/B-cell biphenotypic acute leukemia. Leukemia. 23:1920-1923, 2009.

27. Zou Y., Milunsky J. Developmental disability and hypomelanosis Ito in a female with 7.3 Mb de novo duplication of Xp11.3-p11.4 and random X inactivation. Am. J. Med. Genet. 149A:2573-2577, 2009

28. Leon E, Zou Y., Milunsky J. Mosaic Down syndrome in a patient with low-level mosaicism detected by microarray. Am. J. Med. Genet. 152A:3154-3156, 2010.

29. Marian C, Yang L, Zou Y., Pong RC, Gore C, Shay J, Kabbani W, Hsieh J, Raj GV. Evidence of epithelial to mesenchymal transition associated with cancer progression in a new prostate cancer cell line derived from a primary tumor. Prostate. 71:626-636, 2010.

30. Sheridan M, Kato T, Haldeman-Englert C, Jalali G, Milunsky J, Zou Y., Klaes R, Gimelli G, Gemmill R, Drabkin H, Hacker1 A, Brown J, Tomkins D, Shaikh1 T, Kurahashi H, Zackai1 E, Emanuel1 B. A palindrome-mediated recurrent translocation with 3:1 meiotic non-disjunction: The t(8;22)(q24.13;q11.21). Am J Hum Genet. 87:209-218, 2010.

31. Eskiocak U, Kim SB, Roig AI, Kitten E, Batten K, Cornelius C, Zou Y., Wright WE, Shay JW. CDDO-Me protects against heavy ion-induced transformation of human colonic epithelial cells. Radition Res. 174:27-36, 2010.

32. Zou Y., Newton S., Milunsky J. A complex maternal rearrangement results in a pure 10.8 Mb duplication of the 5q13.1-q14.1 region in an affected son. Am. J. Med. Genet. 152A:498-503, 2010.

33. Day T, Palle K, Barkley L, Kakusho N, Zou Y., Tateishi S, Verreault A, Masai H, Vaziri C. Phosphorylation Rad18 directs DNA polymerase eta to sites of stalled replication. J Cell Biol. 191:953-966, 2010.

34. Huang XL*, Zou Y.*, Maher T, Newton S., Milunsky J. A new de novo balanced translocation breakpoint truncating the autism susceptibility candidate 2 (AUTS2) gene in a patient with autism. Am. J. Med. Genet. 152A:2115-2119. *Co-first authors, 2010

35. Leon E, Jamal SM, Zou Y., Milunsky JM. Partial trisomy 8 mosaicism due to a pseudoisodicentric chromosome 8. Am. J. Med. Genet. 155:1740-1744, 2011.

36. Flynn M, Zou Y., Milunsky AM. Whole gene duplication of the PQBP1 gene in syndrome Resembling Renpenning. Am. J. Med. Genet. 155:141-144, 2011.

37. Ly P, Eskiocak U, Kim S, Roig A, Hight S, Zou Y, Batten K, Wright W, Shay J. Characterization of aneuploid populations with trisomy 7 and 20 derived from diploid human colonic epithelial cells. Neoplasia 13:348-357, 2011

38. Co M, Yang L, Zou Y, Gore C, Pong RC, Shay JW, Kabbani W, Hsieh JT, Raj GV. Evidence of epithelial to mesenchymal transition  associated with increased tumorigenic potential in an immortalized normal prostate epithelial cell line. Prostate 71:626-636, 2011. 

39. Martin J, Saleki R, Christensen T, Liu W, Schappert J, Zou Y. Familial 25.3 Mb inverted duplication of bands q32.1 to q35.1 on chromosome 4 with psychomoter retardation. Am. J. Med.  Genet 158A:2624-2628, 2012.

40. Ghayee HK, Bhagwandin VJ, Stastny V, Click A, Ding LH, Mizrachi D, Zou Y, Chari R, Lam WL, Bachoo RM, Smith AL, Story MD, Sidhu S, Robinson BG, Nwariaku FE, Gazdar AF, Auchus RJ, Shay JW. Progenitor cell line (hPheo1) derived from a human pheochromocytoma tumor. PLoS One  8(6):e65624, 2013

41. Hodge JC, Mitchell E, Pillalamarri V, Toler T, Bartel F, Kearney H, Zou Y, et al. Highly penetrant psychopathology and diagnostic overlap with multiple syndromes resulting from MBD5 disruption. Mol. Pshchiatry 19:368-379, 2014

42. Alexiev BA, Thomas C, Zou Y. Clear cell papillary renal cell carcinoma with angiomyomatous stroma: a histological, immunohistochemical, and fluorescence in situ hybridization study. Virchows Arch. 464:709-716, 2014.

43. Christensen T, Deng W, McMahill B, Schappert J, Liu W, Saleki R, Zou Y.Utilization of magnetic-activated cell sorting and high-density single nucleotide polymorphismmicroarrays improves diagnostic yield and prognostic value in clinical testing for patients with multiple myeloma and normal routine chromosome study. Acta Haematol. 132(2):233-236, 2014.

44. Gourdin T, Zou Y, Ning Y, Emadi A, Duong V, Tidwell M, Chen C, Rassool F, Baer M.High frequency of rare structural chromosome abnormalities at relapse of cytogenetically normal acute myeloid leukemia with FLT3 internal tandem duplication. Cancer Genetics 207:467-73, 2014.

45. Zou Y, Huang Y, FengZ, ChanS, KocogluMH, RapoportAP, MAN,  HardyNH, YaredY, BaerMR, BadrosAZ. Racial Differences in Molecular Cytogenetic Abnormalities in Black and White Patients with Multiple Myeloma (MM): A Single-Center Experience. Blood 126:1767, 2015

46.  Koka M, Mainor C, Banerjee A, BaerM, Zou Y. Concomitant amplification of the MLL gene on a ring chromosome and a homogeneously staining region (hsr) in acute myeloid leukemia: mechanistic implications. Leuk Lymphoma (in press).        

Clinical Specialty Details

                 Clinical Cytogenetics, American Board of Medical Genetics and Genomics

                 Clinical Molecular Genetics, American Board of Medical Genetics and Genomics

Awards and Affiliations

2002                          Ellison Medical Foundation Award at the MBL, Woods Hole, MA

2003                          University of Texas Southwestern Graduate School GSO Travel Scholarship

2004                          American Association for Cancer Research (AACR) –WICR Brigid G. Leventhal Scholar Award in Cancer Research, San Francisco, CA

2004                          Best Research Award at AACR Conference on Telomeres and Telomerase, San Francisco, CA

2004                          Best Research Award at Annual Meeting of the Texas Genetics Society, Dallas, TX

2004                          University of Texas Southwestern Graduate School GSO Top Five Research Award, Dallas, TX

2010-13                     Best Teacher Award in Genetics, Providence Sacred Heart Medical Center, Spokane, WA

2015                2015 Reviewers’ Choice Abstract at the American Society of Human Genetics Annual Meeting in Baltimore, MD

Professional Activity

1995-              Member, Chinese Society of Human Genetics and Medical Genetics

1996-              Member, American Association for the Advancement Science

1996-              Member, American Society of Human Genetics

1999-              Member, American Association for Cancer Research 

2000-04         Advisory Committee member, National Genetics Center, Beijing, China     

2004-              American Journal of Medical Genetics, Ad hoc reviewer         

2005-              Inspector, Laboratory Accreditation Program, College of American Pathologists (CAP) Cytogenetics, Molecular Diagnostics and Cytogenetics

2006-              Journal of Medical Genetics, Ad hoc reviewer  

2007-              Cytogeneticist, Southwest Oncology and Children’s Oncology Group

2007-              Cytogeneticist, American Board of Medical Genetics and Genomics

2009-              Molecular Geneticist, American Board of Medical Genetics and Genomics

2010-              Clinical Genetics, Ad hoc reviewer

2012-              Molecular Cytogenetics, Ad hoc reviewer

2013-              Clinical Cytogeneticist, Cancer and Leukemia Group B, Cancer Trials Support Unit by National Cancer Institute

2013-              Clinical Cytogeneticist, Eastern Cooperative Oncology Group

2014-              Experimental Hematology & Oncology, Ad hoc reviewer