Joseph Shen, MD

Title(s)Associate Professor, Dean's Office
SchoolSchool of Medicine
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    Joseph Shen M.D., Ph.D.
    Associate Clinical Professor, UCSF

    Joseph Shen, M.D., Ph.D., is board certified in Pediatrics and Medical Genetics.

    He earned his medical degree from Case Western Reserve University School of Medicine. There he also received his Ph.D. from the Department of Human Genetics. His residency in Pediatrics and his fellowship in Medical Genetics were completed at Baylor College of Medicine.

    Joseph Shen, M.D., Ph.D., is an Assistant Clinical Professor of University of California, San Francisco. He was previously an Instructor in the Department of Molecular and Human Genetics at Baylor College of Medicine.

    He has co-authored many articles published in journals including the New England Journal of Medicine, Nature Genetics, American Journal of Medical Genetics, and American Journal of Human Genetics.

    In his free time, he enjoys juggling, hiking, and traveling with his family and two children. He is fluent in English and speaks some Mandarin Chinese.

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    Publications listed below are automatically derived from MEDLINE/PubMed and other sources, which might result in incorrect or missing publications. Researchers can login to make corrections and additions, or contact us for help.
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    1. Shen JJ, Carmichael J, Vásquez Santos L. 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 Aug; 27(4):996-1004. PMID: 29397479.
      View in: PubMed
    2. 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 Cancer. 2016 Feb; 55(2):131-42. PMID: 26542077.
      View in: PubMed
    3. 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. PMID: 26494257.
      View in: PubMed
    4. 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. PMID: 25629734; PMCID: PMC4345968.
    5. Wang JC, Ross L, Mahon LW, Owen R, Hemmat M, Wang BT, El Naggar M, Kopita KA, Randolph LM, Chase JM, Matas Aguilera MJ, Siles JL, 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. PMID: 25118026; PMCID: PMC4402629.
    6. Li L, Shen JJ, Bournat JC, Huang L, Chattopadhyay A, Li Z, Shaw C, Graham BH, Brown CW. Activin signaling: effects on body composition and mitochondrial energy metabolism. Endocrinology. 2009 Aug; 150(8):3521-9. PMID: 19389832; PMCID: PMC2717868.
    7. Shen JJ, Huang L, Li L, Jorgez C, Matzuk MM, Brown CW. Deficiency of growth differentiation factor 3 protects against diet-induced obesity by selectively acting on white adipose. Mol Endocrinol. 2009 Jan; 23(1):113-23. PMID: 19008465; PMCID: PMC2646597.
    8. Kurotaki N, Shen JJ, Touyama M, Kondoh T, Visser R, Ozaki T, Nishimoto J, Shiihara T, Uetake K, Makita Y, Harada N, Raskin S, Brown CW, Höglund P, Okamoto N, Lupski JR. Phenotypic consequences of genetic variation at hemizygous alleles: Sotos syndrome is a contiguous gene syndrome incorporating coagulation factor twelve (FXII) deficiency. Genet Med. 2005 Sep; 7(7):479-83. PMID: 16170239.
      View in: PubMed
    9. Bhakta KY, Marlin SJ, Shen JJ, Fernandes CJ. Terminal deletion of chromosome 15q26.1: case report and brief literature review. J Perinatol. 2005 Jun; 25(6):429-32. PMID: 15843813.
      View in: PubMed
    10. Shen JJ, Kurotaki N, Patel A, Lupski JR, Brown CW. Low factor XII level in an individual with Sotos syndrome. Pediatr Blood Cancer. 2005 Feb; 44(2):187-9. PMID: 15390361.
      View in: PubMed
    11. Shen JJ, Brown CA, Lupski JR, Potocki L. Mandibuloacral dysplasia caused by homozygosity for the R527H mutation in lamin A/C. J Med Genet. 2003 Nov; 40(11):854-7. PMID: 14627682; PMCID: PMC1735303.
    12. McCormack WM, Shen JJ, Curry SM, Berend SA, Kashork C, Pinar H, Potocki L, Bejjani BA. Partial deletions of the long arm of chromosome 13 associated with holoprosencephaly and the Dandy-Walker malformation. Am J Med Genet A. 2003 Apr 15; 118A(2):384-9. PMID: 12698964.
      View in: PubMed
    13. McCormack WM, Shen JJ, Curry SM, Berend SA, Kashork C, Pinar H, Potocki L, Bejjani BA. Partial deletions of the long arm of chromosome 13 associated with holoprosencephaly and the Dandy-Walker malformation. Am J Med Genet. 2002 Nov 01; 112(4):384-9. PMID: 12376941.
      View in: PubMed
    14. Shen JJ, Sherman SL, Hassold TJ. Centromeric genotyping and direct analysis of nondisjunction in humans: Down syndrome. Chromosoma. 1998 Jun; 107(3):166-72. PMID: 9639654.
      View in: PubMed
    15. Lamb NE, Feingold E, Savage A, Avramopoulos D, Freeman S, Gu Y, Hallberg A, Hersey J, Karadima G, Pettay D, Saker D, Shen J, Taft L, Mikkelsen M, Petersen MB, Hassold T, Sherman SL. Characterization of susceptible chiasma configurations that increase the risk for maternal nondisjunction of chromosome 21. Hum Mol Genet. 1997 Sep; 6(9):1391-9. PMID: 9285774.
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    16. Lamb NE, Freeman SB, Savage-Austin A, Pettay D, Taft L, Hersey J, Gu Y, Shen J, Saker D, May KM, Avramopoulos D, Petersen MB, Hallberg A, Mikkelsen M, Hassold TJ, Sherman SL. Susceptible chiasmate configurations of chromosome 21 predispose to non-disjunction in both maternal meiosis I and meiosis II. Nat Genet. 1996 Dec; 14(4):400-5. PMID: 8944019.
      View in: PubMed
    17. Hassold T, Abruzzo M, Adkins K, Griffin D, Merrill M, Millie E, Saker D, Shen J, Zaragoza M. Human aneuploidy: incidence, origin, and etiology. Environ Mol Mutagen. 1996; 28(3):167-75. PMID: 8908177.
      View in: PubMed
    18. Shen JJ, Williams BJ, Zipursky A, Doyle J, Sherman SL, Jacobs PA, Shugar AL, Soukup SW, Hassold TJ. Cytogenetic and molecular studies of Down syndrome individuals with leukemia. Am J Hum Genet. 1995 Apr; 56(4):915-25. PMID: 7717402; PMCID: PMC1801215.