Joseph Shieh, MD, PhD

Director, Medical Genetics Training Program
Associate Professor
Department of Pediatrics
Institute for Human Genetics
Personalize Genomics and NF/RAS Clinics
ShiehJ2@humgen.ucsf.edu

Dr. Shieh is board certified in Pediatrics and in Medical Genetics. He specializes in evaluating individuals with complex medical problems that may harbor a genetic predisposition. Dr. Shieh's research laboratory aims to understand the genetic basis of human diseases, particularly conditions affecting children, by fostering a dynamic and collaborative environment that integrates science with genetics and medicine.

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 trained clinically at the University of Washington/Seattle Children's Hospital and Stanford University and then joined UCSF to further develop his research program. He is supported by the Department of Pediatrics, the Institute for Human Genetics, and the NIH National Heart Lung and Blood Institute.

Click on link below for opportunities in the Shieh lab!

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

Websites

Publications: 

Potential Role of Genomic Sequencing in the Early Diagnosis of Treatable Genetic Conditions.

The Journal of pediatrics

Zahed H, Sparks TN, Li B, Alsadah A, Shieh JTC

Familial melanoma-astrocytoma syndrome: synchronous diffuse astrocytoma and pleomorphic xanthoastrocytoma in a patient with germline CDKN2A/B deletion and a significant family history.

Clinical neuropathology

Chan AK, Han SJ, Choy W, Beleford D, Aghi MK, Berger MS, Shieh JT, Bollen AW, Perry A, Phillips JJ, Butowski N, Solomon DA

Pierpont syndrome associated with the p.Tyr446Cys missense mutation in TBL1XR1.

European journal of medical genetics

Slavotinek A, Pua H, Hodoglugil U, Abadie J, Shieh J, Van Ziffle J, Kvale M, Lee H, Kwok PY, Risch N, Sabbadini M

De Novo Truncating Mutations in the Last and Penultimate Exons of PPM1D Cause an Intellectual Disability Syndrome.

American journal of human genetics

Jansen S, Geuer S, Pfundt R, Brough R, Ghongane P, Herkert JC, Marco EJ, Willemsen MH, Kleefstra T, Hannibal M, Shieh JT, Lynch SA, Flinter F, FitzPatrick DR, Gardham A, Bernhard B, Ragge N, Newbury-Ecob R, Bernier R, Kvarnung M, Magnusson EA, Wessels MW, van Slegtenhorst MA, Monaghan KG, de Vries P, Veltman JA

Newborn Sequencing in Genomic Medicine and Public Health.

Pediatrics

Berg JS, Agrawal PB, Bailey DB, Beggs AH, Brenner SE, Brower AM, Cakici JA, Ceyhan-Birsoy O, Chan K, Chen F, Currier RJ, Dukhovny D, Green RC, Harris-Wai J, Holm IA, Iglesias B, Joseph G, Kingsmore SF, Koenig BA, Kwok PY, Lantos J, Leeder SJ, Lewis MA, McGuire AL, Milko LV, Mooney SD, Parad RB, Pereira S, Petrikin J, Powell BC, Powell CM, Puck JM, Rehm HL, Risch N, Roche M, Shieh JT, Veeraraghavan N, Watson MS, Willig L, Yu TW, Urv T, Wise AL