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Faculty and Staff

Chun-Hui (Anne) Tsai, MD, Msc, FAAP, FACMG

Chun-Hui (Anne) Tsai, MD, MSc, FAAP, FACMG


Program Director, Medical Genetics and Genomics Residency

CHF Herring/Seeley M.D. Ph.D/Chiles Chair in Genetics

405-271-8685 x45704


MD, China Medical University, Taiwan

MSc, University of Toronto, Canada

Board Certification(s):

American Board of Pediatrics

  • Pediatrics

American Board of Medical Genomics and Genetics

  • Clinical Genetics
  • Clinical Biochemical Genetics


Fellow of American Colelge of Pediatrics, 1998

Fellow of American College of Medical Genomics and Genetics, 1999

Clinical/Research Interests:

Molecular mechanism of genetic disorders 
Dysmorphology and rare diseases diagnosis 
Inborn errors of metabolism 

Select Publications:

Malinowski J, Miller DT, Demmer L, Gannon J, Pereira EM, Schroeder MC, Scheuner MT, Tsai AC, Hickey SE, Shen J; ACMG Professional Practice and Guidelines Committee. Systematic evidence-based review: outcomes from exome and genome sequencing for pediatric patients with congenital anomalies or intellectual disability. Genet Med. 2020 Mar 23.

Tolchin D, Yeager JP, Prasad P, and 20 others Tsai AC. et al., "De Novo SOX6 Variants Cause a Neurodevelopmental Syndrome Associated with Attention-Deficit/Hyperactivity Disorder, Craniosynostosis and Osteochondromas. 2020 Jun 4; 106(6):830-845. PMID: 32442410

Lin H. Tian , Lisa D. Wiggins, Laura A. Schieve, Marshalyn Yeargin-Allsopp, Patricia Dietz, Arthur S. Aylsworth, Ellen R. Elias, Julie E. Hoover-Fong, Naomi J. L. Meeks, Margaret C. Souders, Anne C.-H. Tsai, Elaine H. Zackai, Aimee A. Alexander, Nicole F. Dowling, and Stuart K. Shapira. Mapping the relationship between dysmorphology and cognitive, behavioral, and developmental outcomes in children with autism spectrum disorder. Autism Res 2020, 13: 1227 -1238

Hallgrímsson, B., Aponte, Anne- Chun-Hui Tsai, et al., Automated Syndrome Diagnosis by Three-Dimensional Facial Photogrammetric Imaging.  Genetics in Medicine (2020)