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 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: 

The role of exome sequencing in newborn screening for inborn errors of metabolism.

Nature medicine

Adhikari AN, Gallagher RC, Wang Y, Currier RJ, Amatuni G, Bassaganyas L, Chen F, Kundu K, Kvale M, Mooney SD, Nussbaum RL, Randi SS, Sanford J, Shieh JT, Srinivasan R, Sunderam U, Tang H, Vaka D, Zou Y, Koenig BA, Kwok PY, Risch N, Puck JM, Brenner SE

Genotype-phenotype correlation at codon 1740 of SETD2.

American journal of medical genetics. Part A

Rabin R, Radmanesh A, Glass IA, Dobyns WB, Aldinger KA, Shieh JT, Romoser S, Bombei H, Dowsett L, Trapane P, Bernat JA, Baker J, Mendelsohn NJ, Popp B, Siekmeyer M, Sorge I, Sansbury FH, Watts P, Foulds NC, Burton J, Hoganson G, Hurst JA, Menzies L, Osio D, Kerecuk L, Cobben JM, Jizi K, Jacquemont S, Bélanger SA, Löhner K, Veenstra-Knol HE, Lemmink HH, Keller-Ramey J, Wentzensen IM, Punj S, McWalter K, Lenberg J, Ellsworth KA, Radtke K, Akbarian S, Pappas J

Activating variants in PDGFRB result in a spectrum of disorders responsive to imatinib monotherapy.

American journal of medical genetics. Part A

Wenger TL, Bly RA, Wu N, Albert CM, Park J, Shieh J, Chenbhanich J, Heike CL, Adam MP, Chang I, Sun A, Miller DE, Beck AE, Gupta D, Boos MD, Zackai EH, Everman D, Ganapathi S, Wilson M, Christodoulou J, Zarate YA, Curry C, Li D, Guimier A, Amiel J, Hakonarson H, Webster R, Bhoj EJ, Perkins JA, Dahl JP, Dobyns WB

Automated syndrome diagnosis by three-dimensional facial imaging.

Genetics in medicine : official journal of the American College of Medical Genetics

Hallgrímsson B, Aponte JD, Katz DC, Bannister JJ, Riccardi SL, Mahasuwan N, McInnes BL, Ferrara TM, Lipman DM, Neves AB, Spitzmacher JAJ, Larson JR, Bellus GA, Pham AM, Aboujaoude E, Benke TA, Chatfield KC, Davis SM, Elias ER, Enzenauer RW, French BM, Pickler LL, Shieh JTC, Slavotinek A, Harrop AR, Innes AM, McCandless SE, McCourt EA, Meeks NJL, Tartaglia NR, Tsai AC, Wyse JPH, Bernstein JA, Sanchez-Lara PA, Forkert ND, Bernier FP, Spritz RA, Klein OD

De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathy.

medRxiv

Chiara Klöckner, Heinrich Sticht, Pia Zacher, Bernt Popp, Dewi P. Bakker, Katy Barwick, Michaela V. Bonfert, Eva H. Brilstra, Care4Rare Canada Consortium, Wendy K. Chung, Angus J. Clarke, Patrick Devine, Jennifer Friedman, Alyssa Gates, Gabriella Horvath, Jennifer Keller-Ramey, Boris Keren, Manju A. Kurian, Virgina Lee, Kathleen A. Leppig, Johan Lundgren, Marie T. McDonald, Amy McTague, Heather C. Mefford, Cyril Mignot, Mohamad A. Mikati, Caroline Nava, F. Lucy Raymond, Julian R. Sampson, Alba Sanchis-Juan, Vandana Shashi, Joseph T.C. Shieh, Marwan Shinawi, Anne Slavotinek, Tommy Stödberg, Nicholas Stong, Jennifer A. Sullivan, Ashley C. Taylor, Tomi L. Toler, Marie-José van den Bogaard, Saskia N. van der Crabben, Koen van Gassen, Richard H. van Jaarsveld, Jessica Van Ziffle, Alexandrea F. Wadley, Matias Wagner, Saskia B. Wortmann, Rikke S. Møller, Johannes R. Lemke, Konrad Platzer