Joseph Shieh, MD, PhD

Medical geneticist

Dr. Joseph Shieh, board certified in medical genetics and pediatrics, specializes in evaluating complex medical problems that are of unknown cause and inherited disorders. He focuses on rare diseases and syndromes that have components of common disorders including congenital anomalies, heart disease and brain disorders. He sees children, adults and families, and is experienced in personalized care.

Shieh is a member of the UCSF Institute for Human Genetics, where he combines state-of-the-art technology with discovery-based research to decipher how genetics impacts health. He is working to optimize patient outcomes through emphasizing diagnostic precision, preventative medicine and comprehensive care.

Shieh graduated from Stanford University. He attended the University of Pennsylvania, where he received his M.D. and his Ph.D. He trained at Seattle Children's Hospital/University of Washington and Stanford University prior to joining UCSF Medical Center. He is a member of the American Society for Human Genetics and is in the UCSF Department of Pediatrics. He is a recipient of the National Institute of Health's National Heart Lung and Blood Institute.


HHT Center of Excellence
185 Berry St., Suite 180, Lobby 6
San Francisco, CA 94107
Phone: (415) 353-8867
Fax: (415) 353-4503

Hours: Monday to Friday,
8 a.m. – 4:30 p.m.

Medical Genetics and Genomics Clinic
1825 Fourth Street, Sixth Floor
San Francisco, CA 94158
Phone: (415) 476-2757
Fax: (415) 476-9305

Hours: Mondays, Tuesdays and Wednesdays

NF/Ras Pathway Clinic
1825 Fourth St., Sixth Floor
San Francisco, CA 94158
Phone: (415) 476-2757
Fax: (415) 476-9305

Academic Title

Associate Professor

More about Joseph Shieh


University of Pennsylvania School of Medicine 2002


Seattle Children's Hospital, Pediatrics 2004


Stanford Medical Center, Medical Genetics 2006
UCSF Medical Center, Medical Genetics 2007

Selected Research and Publications

  1. Yu Z, Tang PL, Wang J, Bao S, Shieh JT, Leung AW, Zhang Z, Gao F, Wong SY, Hui AL, Gao Y, Dung N, Zhang ZG, Fan Y, Zhou X, Zhang Y, Wong DS, Sham PC, Azhar A, Kwok PY, Tam PP, Lian Q, Cheah KS, Wang B, Song YQ. Mutations in Hnrnpa1 cause congenital heart defects. JCI Insight. 2018 Jan 25; 3(2).
  2. Slavotinek A, Risolino M, Losa M, Cho MT, Monaghan KG, Schneidman-Duhovny D, Parisotto S, Herkert JC, Stegmann APA, Miller K, Shur N, Chui J, Muller E, DeBrosse S, Szot JO, Chapman G, Pachter NS, Winlaw DS, Mendelsohn BA, Dalton J, Sarafoglou K, Karachunski PI, Lewis JM, Pedro H, Dunwoodie SL, Selleri L, Shieh J. De novo, deleterious sequence variants that alter the transcriptional activity of the homeoprotein PBX1 are associated with intellectual disability and pleiotropic developmental defects. Hum Mol Genet. 2017 Dec 15; 26(24):4849-4860.
  3. Zahed H, Sparks TN, Li B, Alsadah A, Shieh JTC. Potential Role of Genomic Sequencing in the Early Diagnosis of Treatable Genetic Conditions. J Pediatr. 2017 Oct; 189:222-226.e1.

Publications are derived from MEDLINE/PubMed and provided by UCSF Profiles, a service of the Clinical & Translational Science Institute (CTSI) at UCSF. Researchers can make corrections and additions to their publications by logging on to UCSF Profiles.