Joseph Shieh, MD, PhD

Director, Medical Genetics Training Program
Associate Professor
Department of Pediatrics
Institute for Human Genetics
Personalize Genomics and NF/RAS Clinics
Research Description: 

Dr. Shieh is a board certified Medical Genetics and Genomics physician. He specializes in evaluating individuals with complex medical genetic conditions. Dr. Shieh's research laboratory aims to understand the genetic basis of diseases, particularly conditions affecting children, by using genomic and molecular tools that integrate novel technology with personalized medicine. He and his team also specialize in exome/genome technologies. Shieh is part of a Center for Excellence at UCSF.

Dr. Shieh received his undergraduate degree from Stanford University and then trained as a physician scientist at the University of Pennsylvania, where he received his M.D. and his Ph.D. He completed residencies and fellowships at the University of Washington/Seattle Children's Hospital, Stanford University, and UCSF. He worked at Stanford and then developed his research program at UCSF.

Primary Thematic Area: 
Human Genetics
Secondary Thematic Area: 
Developmental & Stem Cell Biology
Research Summary: 
Genomic Determinants in Human Developmental Disorders



Endovascular Biopsy for Detection of Somatic Mosaicism in Human Fusiform Cerebral Aneurysms.

Stroke Vascular and Interventional Neurology

Joseph H. Garcia, Ethan A. Winkler, Kerstin Müller, Evan Kao, Kazim Narsinh, Nerissa Ko, Patricia Cornett, Adib A. Abla, Joseph T. Shieh, Daniel L. Cooke

CXCL14 promotes a robust brain tumor-associated immune response in glioma.

Clinical cancer research : an official journal of the American Association for Cancer Research

Kumar A, Mohamed E, Tong S, Chen K, Mukherjee J, Lim Y, Wong CM, Boosalis Z, Shai A, Pieper RO, Gupta N, Perry A, Bollen AW, Molinaro AM, Solomon DA, Shieh JTC, Phillips JJ

De novo heterozygous variants in SLC30A7 are a candidate cause for Joubert syndrome.

American journal of medical genetics. Part A

Penon-Portmann M, Eldomery MK, Potocki L, Marafi D, Posey JE, Coban-Akdemir Z, Harel T, Grochowski CM, Loucks H, Devine WP, Van Ziffle J, Doherty D, Lupski JR, Shieh JT

Tumor and Constitutional Sequencing for Neurofibromatosis Type 1.

JCO precision oncology

Tong S, Devine WP, Shieh JT