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Denise A. Batista, M.S., Ph.D.

Headshot of Denise A. Batista
  • Director, Cytogenomics Laboratory
  • Associate Professor of Pathology

Research Interests

Contiguous-gene abnormalities; Single-gene defects; Intellectual disability; Developmental delay; Duplication; Translocation; Microdeletion; Chromosome defects/alterations; Cytogenetics; Medical genetics more


Dr. Denise A. Batista is an associate professor of pathology at the Johns Hopkins University School of Medicine. Dr. Batista is the director of the Cytogenomics Laboratory at Johns Hopkins Hospital and a member of the McKusick-Nathans Institute of Genetic Medicine.

An expert in cytogenetics—the study of cell, gene, and chromosome development—Dr. Batista is working to learn more about the role of genetic defects in both normal and abnormal mental, behavioral and physical development. Her work helps clinicians more accurately diagnose and provide prognostic information to individuals and families who carry certain genetic syndromes.

Dr. Batista earned her Ph.D. in human genetics from Brazil’s University of Sao Paulo, from which she also holds M.S. and B.S. degrees.

American Board of Medical Genetics-certified in clinical cytogenetics, she serves as a preceptor in both the Molecular Pathology and Postdoctoral Clinical Genetics Training Programs, as well. Dr. Batista has published more than 40 journal articles. more


  • Director, Cytogenomics Laboratory
  • Associate Professor of Pathology

Departments / Divisions

Centers & Institutes



  • B.S.; Universidade de Sao Paulo (Brazil) (1980)
  • M.S.; Universidade de Sao Paulo (Brazil) (1983)
  • Ph.D.; Universidade de Sao Paulo (Brazil) (1987)

Research & Publications

Research Summary

The Batista Laboratory is working to learn more about the role of genetic defects in both normal and abnormal mental, behavioral, and physical development.

Dr. Batista’s research focuses on cytogenetics—including classical techniques, SNP array, and fluorescence in situ hybridization—in order to identify small chromosomal abnormalities (microdeletions, translocations, duplications, etc) that appear to be associated with specific types of physical and/or mental abnormalities. Dr. Batista and her team of researchers are working to characterize these rearrangements, which will lead to phenotype-genotype correlation and identification of causative genes.

The Batista Lab also provides a variety of specialized techniques needed for genetic studies performed by Johns Hopkins and Kennedy Krieger clinicians and investigators.

Selected Publications

View all on PubMed

Ho CY, Mosier S, Safneck J, Salomao DR, Miller NR, Eberhart CG, Gocke CD, Batista DA, Rodriguez FJ. “Genetic Profiling by Single-Nucleotide Polymorphism-Based Array Analysis Defines Three Distinct Subtypes of Orbital Meningioma.” Brain Pathol. 2014 Apr 28. doi: 10.1111/bpa.12150. [Epub ahead of print]

Bishop JA, Yonescu R, Batista D, Yemelyanova A, Ha PK, Westra WH. “Mucoepidermoid Carcinoma Does Not Harbor Transcriptionally Active High Risk Human Papillomavirus Even in the Absence of the MAML2 Translocation.” Head Neck Pathol. 2014 Apr 5. [Epub ahead of print]

Ngoh A, McTague A, Wentzensen IM, Meyer E, Applegate C, Kossoff EH, Batista DA, Wang T, Kurian MA. “Severe infantile epileptic encephalopathy due to mutations in PLCB1: expansion of the genotypic and phenotypic disease spectrum.” Dev Med Child Neurol. 2014 Mar 29. doi: 10.1111/dmcn.12450. [Epub ahead of print]

Bishop JA, Yonescu R, Batista D, Warnock GR, Westra WH. “Glandular Odontogenic Cysts (GOCs) Lack MAML2 Rearrangements: A Finding to Discredit the Putative Nature of GOC as a Precursor to Central Mucoepidermoid Carcinoma.” Head Neck Pathol. 2014 Mar 20. [Epub ahead of print]

Henderson LB, Applegate CD, Wohler E, Sheridan MB, Hoover-Fong J, Batista DA. “The impact of chromosomal microarray on clinical management: a retrospective analysis.” Genet Med. 2014 Mar 13. doi: 10.1038/gim.2014.18. [Epub ahead of print]

Activities & Honors

Professional Activities

  • Preceptor, Molecular Pathology Training Program
  • Preceptor, Postdoctoral Clinical Genetics Training Program
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