Joseph Shen, M.D., Ph.D.

Joseph J. Shen, M.D., Ph.D.


Clinical Genetics




  • Associate Professor


To see if Joseph J. Shen is accepting new patients, or for assistance finding a UC Davis doctor, please call 800-2-UCDAVIS (800-282-3284).

UC Davis MIND Institute

2825 50th St.
Sacramento, CA 95817
Driving Directions

Primary Phone:

Additional Phone Numbers

Clinic Phone: 916-703-0300
Clinic Fax: 916-703-7941
Physician Referrals: 800-4-UCDAVIS (800-482-3284)

Philosophy of Care

I believe in providing comprehensive genetics care for an individual (and the entire family) with a suspected genetic disease. It starts with a thorough exam and gathering of clinical details, then coordinating testing, to determine if there could be an identifiable genetic change. If a genetic disease or syndrome is found, further care is provided with discussions of the next steps in the clinical management and what the future may be like. In addition, for the individual and the extended family, discussions will also extend to the psychosocial impacts of this disease, recurrence risks, and if relatives could have related medical concerns as well.

Clinical Interests

Dr. Shen is a clinical geneticist offering care to individuals with neurodevelopmental disorders, congenital anomalies, family history of genetic conditions, and many other diseases and syndromes with underlying genetic etiologies.

Research/Academic Interests

Dr. Shen's research and academic interests center around the molecular basis of various genetic diseases, the genetics care of underserved populations, and many other general clinical genetics topics. He will be using model and experimental systems to study uncharacterized neurodevelopmental and seizure disorders.


Genomic Medicine

Center/Program Affiliation

UC Davis Children's Hospital
UC Davis MIND Institute


M.D., Case Western Reserve University, Cleveland OH 1999

Ph.D., Human Genetics, Case Western Reserve University, Cleveland OH 1999

B.S., UC Berkeley, Berkeley CA 1991

Internship: Pediatrics, Baylor College of Medicine, Houston TX 1999-2000


Pediatrics, Baylor College of Medicine, Houston TX 2000-2002


Human Genetics, Baylor College of Medicine, Houston TX 2002-2005

Board Certifications

American Board of Medical Genetics and Genomics, Clinical Genetics,

American Board of Pediatrics,

Professional Memberships

American College of Medical Genetics and Genomics

American Society of Human Genetics

Select Recent Publications

Helbig I, Lopez-Hernandez T, Shor O, Galer P, Ganesan S, Pendziwiat M, Rademacher A, Ellis CA, Hümpfer N, Schwarz N, Seiffert S, Peeden J, Shen J, Št?rbová K, Hammer TB, Møller RS, Shinde DN, Tang S, Smith A, Poduri A, Krause R, Benninger F, Helbig KL, Haucke V, Weber YG, the EuroEPINOMICS-RES Consortium, and the GRIN Consortium. A Recurrent Missense Variant in AP2M1 Impairs Clathrin-Mediated Endocytosis and Causes Developmental and Epileptic Encephalopathy. Am J Hum Genet. 2019 Jun 6;104(6):1060–1072. Published online 2019 May 16. doi:10.1016/j.ajhg.2019.04.001. PMID:31104773.

Shen JJ, Carmichael J, Santos LV. Identifying and Addressing Genetic Counseling Challenges among Indigenous People of Oaxaca-One Center's Experience with Two Immigrant Farmworker Families in the Central Valley of California. J Genet Couns. 2018;27(4): 996–1004. Published online 2018 Feb 3. doi:10.1007/s10897-018-0221-0. PMID:29397479.

Yoon WH, Sandoval H, Nagarkar-Jaiswal S, Jaiswal M, Yamamoto S, Haelterman NA, Nagireddy Putluri N, Putluri V, Sreekumar A, Tos T, Aksoy A, Donti T, Graham BH, Ohno M, Nishi E, Hunter J, Muzny DM, Carmichael J, Shen J, Arboleda VA, Nelson SF, Wangler MF, Karaca E, Lupski JR, Bellen HJ. Loss of Nardilysin, a Mitochondrial Co-chaperone for α-Ketoglutarate Dehydrogenase, Promotes mTORC1 Activation and Neurodegeneration. Neuron. 2017 Jan 4;93(1):115-131. doi:10.1016/j.neuron.2016.11.038. Epub 2016 Dec 22. PMID:28017472.

Kansal R, Li X, Shen J, Samuel D, Laningham F, Lee H, Panigrahi GB, Shuen A, Kantarci S, Dorrani N, Reiss J, Shintaku P, Deignan JL, Strom SP, Pearson CE, Vilain E, Grody WW. An infant with MLH3 variants, FOXG1-duplication and multiple, benign cranial and spinal tumors: A clinical exome sequencing study. Genes Chromosomes and Cancer. 2016 Feb; 55(2):131-142. doi:10.1002/gcc.22319.

Mundy S, Krock BL, Mao R, Shen JJ. BRAT1-related disease-identification of a patient without early lethality. Am J Medical Genetics, Part A. 2016 Mar;170(3):699-702. doi:10.1002/ajmg.a.37434. Epub 2015 Oct 22.

Simons C, Rash LD, Crawford J, Ma L, Cristofori-Armstrong B, Miller D, Ru K, Baillie GJ, Alanay Y, Jacquinet A, Debray FG, Verloes A, Shen J, Yesil G, Guler S, Yuksel A, Cleary JG, Grimmond SM, McGaughran J, King GF, Gabbett MT, Taft RJ. Mutations in the voltage-gated potassium channel gene KCNH1 cause Temple-Baraitser syndrome and epilepsy. Nat Genet. 2015 Jan;47(1):73-7. doi: 10.1038/ng.3153. Epub 2014 Nov 24.

Wang JC, Ross L, Mahon LW, Owen R, Hemmat M, Wang BT, El Naggar M, Kopita KA, Randolph LM, Chase JM, Matas Aguilera MJ, López Siles J, Church JA, Hauser N, Shen JJ, Jones MC, Wierenga KJ, Jiang Z, Haddadin M, Boyar FZ, Anguiano A, Strom CM, Sahoo T. Regions of homozygosity identified by oligonucleotide SNP arrays: Evaluating the incidence and clinical utility. Eur J Hum Genet. 2015 May;23(5):663-71. doi:10.1038/ejhg.2014.153. Epub 2014 Aug 13. PMID:25118026.

Wu N, Ming X, Xiao J, Wu Z, Chen X, Shinawi M, Shen Y, Yu G, Liu J, Xie H, Gucev ZS, Liu S, Yang N, Al-Kateb H, Chen J, Zhang J, Hauser N, Zhang T, Tasic V, Liu P, Su X, Pan X, Liu C, Wang L, Shen J, Shen J, Chen Y, Zhang T, Zhang J, Choy KW, Wang J, Wang Q, Li S, Zhou W, Guo J, Wang Y, Zhang C, Zhao H, An Y, Zhao Y, Wang J, Liu Z, Zuo Y, Tian Y, Weng X, Sutton VR, Wang H, Ming Y, Kulkarni S, Zhong TP, Giampietro PF, Dunwoodie SL, Cheung SW, Zhang X, Jin L, Lupski JR, Qiu G, Zhang F. TBX6 null variants and a common hypomorphic allele in congenital scoliosis. New England J Med. 2015 Jan 22. doi:10.1056/NEJMoa1406829.

Shen JJ. Two cases of Temple-Baraitser syndrome: Natural history and further delineation of the clinical and radiologic phenotypes. Clin Dysmorphol. 2015 Apr;24(2):55–60. Published online 2015 Mar 9. doi:10.1097/MCD.0000000000000072.

Stewart DR, Brems H, Gomes AG, Ruppert SL, Callens T, Williams J, Claes K, Bober MB, Hachen R, Kaban LB, Li H, Lin A, McDonald M, Melancon S, June Ortenberg J, Radtke HB, Samson I, Saul RA, Shen J, Siqveland E, Toler TL, van Maarle M, Wallace M, Williams M, Legius E, Messiaen L. Jaffe-Campanacci syndrome, revisited: Detailed clinical and molecular analyses determine whether patients have neurofibromatosis type 1, coincidental manifestations, or a distinct disorder. Genet Med. 2014 Jun;16(6):448-59. doi:10.1038/gim.2013.163. Epub 2013 Nov 14.