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.
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.
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.
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
American Board of Medical Genetics and Genomics, Clinical Genetics,
American Board of Pediatrics,
American College of Medical Genetics and Genomics
American Society of Human Genetics
Select Recent Publications
To view a detailed list of Dr. Shen's publications, please click here.
Higa L, Wardley J, Warkley C, Singh S, Foster T, Cole S, Shen JJ. CNKSR2-related neurodevelopmental and epilepsy disorder: a cohort of 13 new patients and literature review indicating a predominance of loss of function pathogenic variants. BMC Medical Genomics. Jul 2021, 15;14(1):186. PMID: 34266427
Shen JJ, Wortmann SB, Kluijtmans LAJ, Collins CD, van der Lee R, van Karnebeek CDM, Hegde MR. Response to Biesecker et al. Genet Med. 2021 Apr;23(4):793-794. doi:10.1038/s41436-020-01055-z. Epub 2021 Jan 8. PMID:33420347.
Shen JJ, Wortmann SB, de Boer L, Kluijtmans LAJ, Huigen MCDG, Koch J, Ross S, Collins CD, van der Lee R, van Karnebeek CDM, Hegde MR. The role of clinical response to treatment in determining pathogenicity of genomic variants. Genet Med. 2021 Mar;23(3):581-585. doi:10.1038/s41436-020-00996-9. Epub 2020 Oct 22. PMID:33087887.
Shen JJ, Davis JL, Hong X, Laningham FH, Gelb MH, Kim GE. A Case of Lysosomal Acid Lipase Deficiency Confirmed by Response to Sebelipase Alfa Therapy. J Pediatr Gastroenterol Nutr. 2020 Dec;71(6):726-730. doi:10.1097/MPG.0000000000002870. PMID:32740531.
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 L, Poduri A, Krause R, Benninger F, Helbig KL, Haucke V, Weber YG; EuroEPINOMICS-RES Consortium; 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. doi:10.1016/j.ajhg.2019.04.001. Epub 2019 May 16. 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.
Mundy SA, Krock BL, Mao R, Shen JJ. BRAT1-related disease--identification of a patient without early lethality. Am J Med Genet A. 2016 Mar;170(3):699-702. doi:10.1002/ajmg.a.37434. Epub 2015 Oct 22. PMID:26494257.
Shen JJ ; Two cases of Temple-Baraitser syndrome: natural history and further delineation of the clinical and radiologic phenotypes. Clin Dysmorphol (24):55-60, 2015.
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. N Engl J Med (372):341-50, 2015.
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, (47):73-7.