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Joseph Shieh, MD, PhD

TitleAssociate Professor
InstitutionUniversity of California San Francisco
DepartmentPediatrics
Address513 Parnassus Ave
San Francisco CA 94143
Phone415-476-2757
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    Collapse Biography 
    Collapse Education and Training
    University of California, San FranciscoPostdoctoral StudiesGraduate Division
    University of PennsylvaniaM.D.2002School of Medicine

    Collapse Overview 
    Collapse Overview
    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.

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    Collapse Research 
    Collapse Research Activities and Funding
    Role of MicroRNA-499 in the Heart
    NIH/NHLBI K08HL092970Apr 15, 2009 - Mar 31, 2014
    Role: Principal Investigator

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    Collapse Websites
    Collapse Faculty Mentoring

    Collapse Bibliographic 
    Collapse Publications
    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.
    List All   |   Timeline
    1. Phillips JJ, Gong H, Chen K, Joseph NM, van Ziffle J, Bastian BC, Grenert JP, Kline CN, Mueller S, Banerjee A, Nicolaides T, Gupta N, Berger MS, Lee HS, Pekmezci M, Tihan T, Bollen AW, Perry A, Shieh J, Solomon DA. The genetic landscape of anaplastic pleomorphic xanthoastrocytoma. Brain Pathol. 2018 Jul 27. PMID: 30051528.
      View in: PubMed
    2. Penon M, Zahed H, Berger V, Su I, Shieh J. Using exome sequencing to decipher family history in a healthy individual: Comparison of pathogenic and population MTM1 variants. Mol Genet Genomic Med. 2018 Jul 25. PMID: 30047259.
      View in: PubMed
    3. Yu Z, Tang PL, Wang J, Bao S, Shieh J, Leung AW, Zhang Z, Gao F, Wong SY, Hui AL, Gao Y, Dung N, Zhang ZG, Fan Y, Zhou X, Zhang Y, Wong DS, Sham PC, Azhar A, Kwok PY, Tam PP, Lian Q, Cheah KS, Wang B, Song YQ. Mutations in Hnrnpa1 cause congenital heart defects. JCI Insight. 2018 Jan 25; 3(2). PMID: 29367466.
      View in: PubMed
    4. Slavotinek A, Risolino M, Losa M, Cho MT, Monaghan KG, Schneidman-Duhovny D, Parisotto S, Herkert JC, Stegmann APA, Miller K, Shur N, Chui J, Muller E, DeBrosse S, Szot JO, Chapman G, Pachter NS, Winlaw DS, Mendelsohn BA, Dalton J, Sarafoglou K, Karachunski PI, Lewis JM, Pedro H, Dunwoodie SL, Selleri L, Shieh J. De novo, deleterious sequence variants that alter the transcriptional activity of the homeoprotein PBX1 are associated with intellectual disability and pleiotropic developmental defects. Hum Mol Genet. 2017 Dec 15; 26(24):4849-4860. PMID: 29036646.
      View in: PubMed
    5. Zahed H, Sparks TN, Li B, Alsadah A, Shieh J. Potential Role of Genomic Sequencing in the Early Diagnosis of Treatable Genetic Conditions. J Pediatr. 2017 Oct; 189:222-226.e1. PMID: 28947054.
      View in: PubMed
    6. Chan AK, Han SJ, Choy W, Beleford D, Aghi MK, Berger MS, Shieh J, Bollen AW, Perry A, Phillips JJ, Butowski N, Solomon DA. Familial melanoma-astrocytoma syndrome: synchronous diffuse astrocytoma and pleomorphic xanthoastrocytoma in a patient with germline CDKN2A/B deletion and a significant family history. Clin Neuropathol. 2017 Sep/Oct; 36(5):213-221. PMID: 28699883.
      View in: PubMed
    7. Slavotinek A, Pua H, Hodoglugil U, Abadie J, Shieh J, Van Ziffle J, Kvale M, Lee H, Kwok PY, Risch N, Sabbadini M. Pierpont syndrome associated with the p.Tyr446Cys missense mutation in TBL1XR1. Eur J Med Genet. 2017 Oct; 60(10):504-508. PMID: 28687524.
      View in: PubMed
    8. Jansen S, Geuer S, Pfundt R, Brough R, Ghongane P, Herkert JC, Marco EJ, Willemsen MH, Kleefstra T, Hannibal M, Shieh J, 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. De Novo Truncating Mutations in the Last and Penultimate Exons of PPM1D Cause an Intellectual Disability Syndrome. Am J Hum Genet. 2017 Apr 06; 100(4):650-658. PMID: 28343630.
      View in: PubMed
    9. 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 J, Veeraraghavan N, Watson MS, Willig L, Yu TW, Urv T, Wise AL. Newborn Sequencing in Genomic Medicine and Public Health. Pediatrics. 2017 Feb; 139(2). PMID: 28096516.
      View in: PubMed
    10. Lindberg OR, McKinney A, Engler JR, Koshkakaryan G, Gong H, Robinson AE, Ewald AJ, Huillard E, David James C, Molinaro AM, Shieh J, Phillips JJ. GBM heterogeneity as a function of variable epidermal growth factor receptor variant III activity. Oncotarget. 2016 Nov 29; 7(48):79101-79116. PMID: 27738329.
      View in: PubMed
    11. DeParis SW, Bloomer M, Han Y, Vagefi MR, Shieh J, Solomon DA, Grenert J, de Alba Campomanes AG. Uveal Ganglioneuroma due to Germline PTEN Mutation (Cowden Syndrome) Presenting as Unilateral Infantile Glaucoma. Ocul Oncol Pathol. 2017 Jul; 3(2):122-128. PMID: 28868283.
      View in: PubMed
    12. Ge X, Gong H, Dumas K, Litwin J, Phillips JJ, Waisfisz Q, Weiss MM, Hendriks Y, Stuurman KE, Nelson SF, Grody WW, Lee H, Kwok PY, Shieh J. Missense-depleted regions in population exomes implicate ras superfamily nucleotide-binding protein alteration in patients with brain malformation. NPJ Genom Med. 2016; 1. PMID: 28868155.
      View in: PubMed
    13. Phillips JJ, Gong H, Chen K, Joseph NM, van Ziffle J, Jin LW, Bastian BC, Bollen AW, Perry A, Nicolaides T, Solomon DA, Shieh J. Activating NRF1-BRAF and ATG7-RAF1 fusions in anaplastic pleomorphic xanthoastrocytoma without BRAF p.V600E mutation. Acta Neuropathol. 2016 11; 132(5):757-760. PMID: 27624885.
      View in: PubMed
    14. Peca D, Boldrini R, Johannson J, Shieh J, Citti A, Petrini S, Salerno T, Cazzato S, Testa R, Messina F, Onofri A, Cenacchi G, Westermark P, Ullmann N, Cogo P, Cutrera R, Danhaive O. Clinical and ultrastructural spectrum of diffuse lung disease associated with surfactant protein C mutations. Eur J Hum Genet. 2016 May; 24(5):780. PMID: 27075519; PMCID: PMC4930102.
      View in: PubMed, PubMed Central
    15. Szafranski P, Gambin T, Dharmadhikari AV, Akdemir KC, Jhangiani SN, Schuette J, Godiwala N, Yatsenko SA, Sebastian J, Madan-Khetarpal S, Surti U, Abellar RG, Bateman DA, Wilson AL, Markham MH, Slamon J, Santos-Simarro F, Palomares M, Nevado J, Lapunzina P, Chung BH, Wong WL, Chu YW, Mok GT, Kerem E, Reiter J, Ambalavanan N, Anderson SA, Kelly DR, Shieh J, Rosenthal TC, Scheible K, Steiner L, Iqbal MA, McKinnon ML, Hamilton SJ, Schlade-Bartusiak K, English D, Hendson G, Roeder ER, DeNapoli TS, Littlejohn RO, Wolff DJ, Wagner CL, Yeung A, Francis D, Fiorino EK, Edelman M, Fox J, Hayes DA, Janssens S, De Baere E, Menten B, Loccufier A, Vanwalleghem L, Moerman P, Sznajer Y, Lay AS, Kussmann JL, Chawla J, Payton DJ, Phillips GE, Brosens E, Tibboel D, de Klein A, Maystadt I, Fisher R, Sebire N, Male A, Chopra M, Pinner J, Malcolm G, Peters G, Arbuckle S, Lees M, Mead Z, Quarrell O, Sayers R, Owens M, Shaw-Smith C, Lioy J, McKay E, de Leeuw N, Feenstra I, Spruijt L, Elmslie F, Thiruchelvam T, Bacino CA, Langston C, Lupski JR, Sen P, Popek E, Stankiewicz P. Pathogenetics of alveolar capillary dysplasia with misalignment of pulmonary veins. Hum Genet. 2016 May; 135(5):569-86. PMID: 27071622.
      View in: PubMed
    16. Goldstein JH, Tim-Aroon T, Shieh J, Merrill M, Deeb KK, Zhang S, Bass NE, Bedoyan JK. Novel SMC1A frameshift mutations in children with developmental delay and epilepsy. Eur J Med Genet. 2015 Oct; 58(10):562-8. PMID: 26386245.
      View in: PubMed
    17. Shieh J. Response to Finsterer and Stöllberger "Explanations for discordance of noncompaction in monozygotic twins". Am J Med Genet A. 2015 Oct; 167A(10):2495. PMID: 26198164.
      View in: PubMed
    18. Peca D, Boldrini R, Johannson J, Shieh J, Citti A, Petrini S, Salerno T, Cazzato S, Testa R, Messina F, Onofri A, Cenacchi G, Westermark P, Ullmann N, Ullman N, Cogo P, Cutrera R, Danhaive O. Clinical and ultrastructural spectrum of diffuse lung disease associated with surfactant protein C mutations. Eur J Hum Genet. 2015 Aug; 23(8):1033-41. PMID: 25782673; PMCID: PMC4795107.
      View in: PubMed, PubMed Central
    19. Ge X, Kwok PY, Shieh J. Prioritizing genes for X-linked diseases using population exome data. Hum Mol Genet. 2015 Feb 01; 24(3):599-608. PMID: 25217573; PMCID: PMC4291241.
      View in: PubMed, PubMed Central
    20. Bayer ML, Frommelt PC, Blei F, Breur JM, Cordisco MR, Frieden IJ, Goddard DS, Holland KE, Krol AL, Maheshwari M, Metry DW, Morel KD, North PE, Pope E, Shieh J, Southern JF, Wargon O, Siegel DH, Drolet BA. Congenital cardiac, aortic arch, and vascular bed anomalies in PHACE syndrome (from the International PHACE Syndrome Registry). Am J Cardiol. 2013 Dec 15; 112(12):1948-52. PMID: 24079520; PMCID: PMC4057998.
      View in: PubMed, PubMed Central
    21. Bouhlal Y, Martinez S, Gong H, Dumas K, Shieh J. Twin Mitochondrial Sequence Analysis. Mol Genet Genomic Med. 2013 Sep 01; 1(3):174-186. PMID: 24040623.
      View in: PubMed
    22. Shieh J. Implications of genetic testing in noncompaction/hypertrabeculation. Am J Med Genet C Semin Med Genet. 2013 Aug; 163C(3):206-11. PMID: 23843345; PMCID: PMC3746595.
      View in: PubMed, PubMed Central
    23. Shieh J, Jefferies JL, Chin AJ. Disorders of left ventricular trabeculation/compaction or right ventricular wall formation. Am J Med Genet C Semin Med Genet. 2013 Aug; 163C(3):141-3. PMID: 23843328; PMCID: PMC3727172.
      View in: PubMed, PubMed Central
    24. Ng D, Bouhlal Y, Ursell PC, Shieh J. Monoamniotic monochorionic twins discordant for noncompaction cardiomyopathy. Am J Med Genet A. 2013 Jun; 161A(6):1339-44. PMID: 23636980; PMCID: PMC3664136.
      View in: PubMed, PubMed Central
    25. Siegel DH, Shieh J, Kwon EK, Baselga E, Blei F, Cordisco M, Dobyns WB, Duffy KJ, Garzon MC, Gibbs DL, Grimmer JF, Hayflick SJ, Krol AL, Kwok PY, Lorier R, Matter A, McWeeney S, Metry D, Mitchell S, Pope E, Santoro JL, Stevenson DA, Bayrak-Toydemir P, Wilmot B, Worthey EA, Frieden IJ, Drolet BA, Broeckel U. Copy number variation analysis in 98 individuals with PHACE syndrome. J Invest Dermatol. 2013 Mar; 133(3):677-684. PMID: 23096700; PMCID: PMC3971866.
      View in: PubMed, PubMed Central
    26. Mitchell S, Siegel DH, Shieh J, Stevenson DA, Grimmer JF, Lewis T, Metry D, Frieden I, Blei F, Kayserili H, Drolet BA, Bayrak-Toydemir P. Candidate locus analysis for PHACE syndrome. Am J Med Genet A. 2012 Jun; 158A(6):1363-7. PMID: 22544659; PMCID: PMC3356486.
      View in: PubMed, PubMed Central
    27. Shieh J, Bittles AH, Hudgins L. Consanguinity and the risk of congenital heart disease. Am J Med Genet A. 2012 May; 158A(5):1236-41. PMID: 22488956; PMCID: PMC3331952.
      View in: PubMed, PubMed Central
    28. Shieh J, Huang Y, Gilmore J, Srivastava D. Elevated miR-499 levels blunt the cardiac stress response. PLoS One. 2011 May 09; 6(5):e19481. PMID: 21573063.
      View in: PubMed
    29. Raca G, Jackson CA, Kucinskas L, Warman B, Shieh J, Schneider A, Bardakjian TM, Schimmenti LA. Array comparative genomic hybridization analysis in patients with anophthalmia, microphthalmia, and coloboma. Genet Med. 2011 May; 13(5):437-42. PMID: 21285886; PMCID: PMC4237064.
      View in: PubMed, PubMed Central
    30. King IN, Qian L, Liang J, Huang Y, Shieh J, Kwon C, Srivastava D. A genome-wide screen reveals a role for microRNA-1 in modulating cardiac cell polarity. Dev Cell. 2011 Apr 19; 20(4):497-510. PMID: 21497762; PMCID: PMC3086096.
      View in: PubMed, PubMed Central
    31. Shieh J, Srivastava D. Heart malformation: what are the chances it could happen again? Circulation. 2009 Jul 28; 120(4):269-71. PMID: 19597046; PMCID: PMC2836435.
      View in: PubMed, PubMed Central
    32. Shieh J, Berquist WE, Zhang Q, Chou PC, Wong LJ, Enns GM. Novel deoxyguanosine kinase gene mutations and viral infection predispose apparently healthy children to fulminant liver failure. J Pediatr Gastroenterol Nutr. 2009 Jul; 49(1):130-2. PMID: 19502998.
      View in: PubMed
    33. Dimmock DP, Zhang Q, Dionisi-Vici C, Carrozzo R, Shieh J, Tang LY, Truong C, Schmitt E, Sifry-Platt M, Lucioli S, Santorelli FM, Ficicioglu CH, Rodriguez M, Wierenga K, Enns GM, Longo N, Lipson MH, Vallance H, Craigen WJ, Scaglia F, Wong LJ. Clinical and molecular features of mitochondrial DNA depletion due to mutations in deoxyguanosine kinase. Hum Mutat. 2008 Feb; 29(2):330-1. PMID: 18205204.
      View in: PubMed
    34. Conway RL, Pressman BD, Dobyns WB, Danielpour M, Lee J, Sanchez-Lara PA, Butler MG, Zackai E, Campbell L, Saitta SC, Clericuzio CL, Milunsky JM, Hoyme HE, Shieh J, Moeschler JB, Crandall B, Lauzon JL, Viskochil DH, Harding B, Graham JM. Neuroimaging findings in macrocephaly-capillary malformation: a longitudinal study of 17 patients. Am J Med Genet A. 2007 Dec 15; 143A(24):2981-3008. PMID: 18000912.
      View in: PubMed
    35. Adam MP, Schelley S, Gallagher R, Brady AN, Barr K, Blumberg B, Shieh J, Graham J, Slavotinek A, Martin M, Keppler-Noreuil K, Storm AL, Hudgins L. Clinical features and management issues in Mowat-Wilson syndrome. Am J Med Genet A. 2006 Dec 15; 140(24):2730-41. PMID: 17103451.
      View in: PubMed
    36. Shieh J, Swidler P, Martignetti JA, Ramirez MC, Balboni I, Kaplan J, Kennedy J, Abdul-Rahman O, Enns GM, Sandborg C, Slavotinek A, Hoyme HE. Systemic hyalinosis: a distinctive early childhood-onset disorder characterized by mutations in the anthrax toxin receptor 2 gene (ANTRX2). Pediatrics. 2006 Nov; 118(5):e1485-92. PMID: 17043134.
      View in: PubMed
    37. Shieh J, Aradhya S, Novelli A, Manning MA, Cherry AM, Brumblay J, Salpietro CD, Bernardini L, Dallapiccola B, Hoyme HE. Nablus mask-like facial syndrome is caused by a microdeletion of 8q detected by array-based comparative genomic hybridization. Am J Med Genet A. 2006 Jun 15; 140(12):1267-73. PMID: 16691576.
      View in: PubMed
    38. Shieh J, Hudgins L, Cherry AM, Shen Z, Hoyme HE. Triplication of 8p22-8p23 in a patient with features similar to Kabuki syndrome. Am J Med Genet A. 2006 Jan 15; 140(2):170-3. PMID: 16353235.
      View in: PubMed
    39. Shieh J, Bergelson JM. Interaction with decay-accelerating factor facilitates coxsackievirus B infection of polarized epithelial cells. J Virol. 2002 Sep; 76(18):9474-80. PMID: 12186929; PMCID: PMC136423.
      View in: PubMed, PubMed Central
    40. Schweighardt B, Shieh J, Atwood WJ. CD4/CXCR4-independent infection of human astrocytes by a T-tropic strain of HIV-1. J Neurovirol. 2001 Apr; 7(2):155-62. PMID: 11517388.
      View in: PubMed
    41. Albright AV, Shieh J, O'Connor MJ, González-Scarano F. Characterization of cultured microglia that can be infected by HIV-1. J Neurovirol. 2000 May; 6 Suppl 1:S53-60. PMID: 10871766.
      View in: PubMed
    42. Liu MA, Friedman A, Oliff AI, Tai J, Martinez D, Deck RR, Shieh J, Jenkins TD, Donnelly JJ, Hawe LA. A vaccine carrier derived from Neisseria meningitidis with mitogenic activity for lymphocytes. Proc Natl Acad Sci U S A. 1992 May 15; 89(10):4633-7. PMID: 1533934; PMCID: PMC49137.
      View in: PubMed, PubMed Central
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