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Hui Zhang, MD, PhD

Pediatrics, Genetics
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Patient type treated
Child, Adult
Accepting new patients
Referral required
From patients or physicians
Board Certified in
Clinical Genetics


Hui Zhang, MD, PhD, is a geneticist who specializes in caring for children born with birth defects or developmental disabilities. She regularly diagnoses children and adults with developmental disabilities, autism spectrum disorders, craniofacial anomalies, inherited eye disorders, hearing loss, and various birth defects.  

While Dr. Zhang was completing her doctorate degree, she worked in research labs that looked at genetic causes of human diseases. “It piqued my interest in clinical genetics,” Dr. Zhang says.

At Yale Medicine, Dr. Zhang focuses on identifying the genetic causes for patients' conditions, and helping her patients and their families to understand their conditions. She believes that knowledge of the condition can help significantly, even if a cure doesn’t yet exist.

As a geneticist, Dr. Zhang assists patients with navigating complex medical care that may require visits to different specialists to address various symptoms. “I try to provide comprehensive care for patients with complex medical problems,” Dr. Zhang says. “I help guide them to make sure they get the appropriate care and find the necessary support.”

At Yale School of Medicine, Dr. Zhang is an associate professor of genetics and of pediatrics. She is also co-director of the DNA Diagnostic Lab, which forms diagnostic testing to identify genetic causes of various medical conditions.


  • Associate Professor
  • Co-Director, DNA Diagnostic Lab, Genetics

Education & Training

  • Resident
    Yale University School of Medicine (2002)
  • Resident
    Long Island College Hospital (1999)
  • Fellowship
    Memorial Sloan-Kettering Cancer Center, New York, NY (1996)
  • Fellowship
    Mount Sinai School of Medicine (1995)
  • PhD
    Mt. Sinai School of Medicine (1994)
  • MD
    Shanghai Medical University (1988)

Additional Information

  • Yale Pediatric Specialty Center/Pediatric Genetics
    1 Long Wharf Drive
    New Haven, CT, 06511
  • Yale Genetics
    Yale New Haven Hospital
    20 York Street, Ste 2nd Floor
    New Haven, CT, 06510