Ying S. Zou, M.D., Ph.D.

Headshot of Ying S. Zou
  • Director of Cancer Cytogenetic Laboratory
  • Associate Professor of Pathology


Dr. Ying Zou is an Associate Professor of Pathology and Genetic Medicine at the Johns Hopkins University School of Medicine. Her areas of clinical expertise include the diagnosis of genetic abnormalities in patients with cancer or congenital diseases. Dr. Zou serves as Co-Director of the Cytogenetics and Cytogenomics Laboratory at The Johns Hopkins Hospital, Director of the Cancer Cytogenetics Laboratory, Director of Cytogenomic Research Core, and Associate Director of Molecular Diagnostics Laboratory, Johns Hopkins Genomics. 

Dr. Zou is an expert in cytogenetics and clinical molecular genetics. She is interested in the development of clinical cytogenomic and molecular genetics laboratory tests that can be used in the clinical setting for better patient care, personalized medicine, as well as for discovering disease variants and novel cancer biomarkers. She has been involved in multiple clinical trials. Her research interests are centered on two main projects on the topic of (a) understanding and interpretation of genomic data in human diseases and in cancer development and formation, and (b) telomere biology in human aging and cancer. Dr. Zou has published more than 70 peer-reviewed journal articles. 

As a member of the American Board of Medical Genetics and Genomics, Dr. Zou is active in the training of residents and fellows in several training programs, as well as students for clinical cytogenetics, molecular genetics, pharmaco-genomics and personalized medicine. She was recognized with The Best Attending Pathologist Teacher in Clinical Pathology by University of Maryland in 2017-2018. She is an active committee member of professional societies such as American College of Medical Genetics and Genomics (ACMG), Association for Molecular Pathology (AMP), College of American Pathologists (CAP), Cancer Genomics Consortium (CGC), and Association of Genetic Technologists (AGT), etc., as well as an editor, board member, and associate editor for several professorial journals.  

...read more


  • Director of Cancer Cytogenetic Laboratory
  • Director of Cytogenomic Research Core
  • Associate Director of Molecular Diagnostics Laboratory (JH Genomics)
  • Associate Professor of Pathology

Departments / Divisions



  • M.D.; Peking University (China) (1995)
  • Ph.D.; University of Texas Southwestern Medical Center At Dallas, Southwestern Medical School (Texas) (2004)

Additional Training

  • ABMGG - Clinical Cytogenetics and Genomics Fellowship, Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN (2007)
  • ABMGG - Clinical Molecular Genetics Fellowship, Center for Human Genetics, Boston University School of Medicine, Boston, MA (2008)
  • American Board of Medical Genetics and Genomics / Clinical Cytogenetics and Genomics
  • American Board of Medical Genetics and Genomics / Clinical Molecular Genetics

Research & Publications

Research Summary

My research interests focus on genomics using genetics methods (especially cytogenetics and molecular genetics methods) to identify chromosomal structure abnormalities (such as deletions, translocations, duplications, mutations, chromothripsis/chromoanagenesis, etc.) as well as to understand genomic data, which will lead to phenotype-genotype correlation in human diseases and identification of causative genes in cancer development and formation.

Technology Expertise Keywords

Classical cytogenetics techniques; SNP microarray; fluorescence in situ hybridization; molecular genetics methods; and next-generation sequencing

Selected Publications

View all on PubMed

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

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

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

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

Singh ZN, Richards S, El Chaer F, Duong VH, Gudipati MA, Waters EO, Koon S, Webley M, Pitel B, Hoppman NL, Baer MR, Zou YS (2019). Cryptic ETV6-PDGFRB fusion in a highly complex rearrangement of chromosomes 1, 5, and 12 due to a chromothripsis-like event in a myelodysplastic syndrome/myeloproliferative neoplasm. Leuk Lymphoma. 60(5): 1304-1307

Activities & Honors


  • Fellow of American College of Medical Genetics and Genomics, 2007

    Fellow of American College of Medical Genetics and Genomics

  • Association for Molecular Pathology, 2009
  • Cancer Genomics Consortium, 2019
  • College of American Pathologists, 2007
  • American Society of Human Genetics, 2007
  • American Association for Cancer Research, 1999
  • Children’s Oncology Group (COG), 2013
  • American Association for the Advancement Science (AAAS), 1996
  • Genetics Education Outreach Network (GEON), 2018
Is this you? Edit Profile
back to top button