Joseph Shieh, MD, PhD

Title(s)Associate Professor, Pediatrics
SchoolSchool of Medicine
Address513 Parnassus Ave, HSW
San Francisco CA 94143
Phone415-476-2757
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    Collapse Biography 
    Collapse Education and Training
    University of California, San FranciscoFellowshipGenetics
    University of PennsylvaniaM.D.2002School of Medicine
    University of PennsylvaniaPh.D.1999Immunology
    Collapse Awards and Honors
    Family Advisory Council2017  - 2017Caring Tree Award
    ASHG Top Abstract2020  - 2020Mentored Postdocal fellow Blair

    Collapse Overview 
    Collapse Overview
    Dr. Shieh is a board certified Medical Genetics and Genomics physician. He specializes in evaluating individuals with complex medical genetic conditions. Dr. Shieh's research laboratory aims to understand the genetic basis of diseases, particularly conditions affecting children, by using genomic and molecular tools that integrate novel technology with personalized medicine. He and his team also specialize in exome/genome technologies. Shieh is part of a Center for Excellence at UCSF.

    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 completed residencies and fellowships at the University of Washington/Seattle Children's Hospital, Stanford University, and UCSF. He worked at Stanford and then developed his research program at UCSF.

    Collapse Research 
    Collapse Research Activities and Funding
    Genomic sequencing to aid diagnosis in pediatric and prenatal practice: Examining clinical utility, ethical implications, payer coverage, and data integration in a diverse population.
    NIH U01HG009599Aug 4, 2017 - May 31, 2022
    Role: Co-Investigator
    Sequencing of Newborn Blood Spot DNA to Improve and Expand Newborn Screening
    NIH U19HD077627Sep 5, 2013 - Aug 31, 2019
    Role: Co-Investigator
    Role of MicroRNA-499 in the Heart
    NIH K08HL092970Apr 15, 2009 - Mar 31, 2014
    Role: Principal Investigator

    Collapse ORNG Applications 
    Collapse Featured Publications
    Collapse Faculty Mentoring
    Collapse Student Projects

    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. to make corrections and additions.
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    Altmetrics Details PMC Citations indicate the number of times the publication was cited by articles in PubMed Central, and the Altmetric score represents citations in news articles and social media. (Note that publications are often cited in additional ways that are not shown here.) Fields are based on how the National Library of Medicine (NLM) classifies the publication's journal and might not represent the specific topic of the publication. Translation tags are based on the publication type and the MeSH terms NLM assigns to the publication. Some publications (especially newer ones and publications not in PubMed) might not yet be assigned Field or Translation tags.) Click a Field or Translation tag to filter the publications.
    1. Somatic mosaicism in the MAPK pathway in sporadic brain arteriovenous malformation and association with phenotype. J Neurosurg. 2021 Jul 02; 1-8. Gao S, Nelson J, Weinsheimer S, Winkler EA, Rutledge C, Abla AA, Gupta N, Shieh JT, Cooke DL, Hetts SW, Tihan T, Hess CP, Ko N, Walcott BP, McCulloch CE, Lawton MT, Su H, Pawlikowska L, Kim H. PMID: 34214981.
      View in: PubMed   Mentions:    Fields:    
    2. Pathogenic SPTBN1 variants cause an autosomal dominant neurodevelopmental syndrome. Nat Genet. 2021 Jul; 53(7):1006-1021. Cousin MA, Creighton BA, Breau KA, Spillmann RC, Torti E, Dontu S, Tripathi S, Ajit D, Edwards RJ, Afriyie S, Bay JC, Harper KM, Beltran AA, Munoz LJ, Falcon Rodriguez L, Stankewich MC, Person RE, Si Y, Normand EA, Blevins A, May AS, Bier L, Aggarwal V, Mancini GMS, van Slegtenhorst MA, Cremer K, Becker J, Engels H, Aretz S, MacKenzie JJ, Brilstra E, van Gassen KLI, van Jaarsveld RH, Oegema R, Parsons GM, Mark P, Helbig I, McKeown SE, Stratton R, Cogne B, Isidor B, Cacheiro P, Smedley D, Firth HV, Bierhals T, Kloth K, Weiss D, Fairley C, Shieh JT, Kritzer A, Jayakar P, Kurtz-Nelson E, Bernier RA, Wang T, Eichler EE, van de Laar IMBH, McConkie-Rosell A, McDonald MT, Kemppainen J, Lanpher BC, Schultz-Rogers LE, Gunderson LB, Pichurin PN, Yoon G, Zech M, Jech R, Winkelmann J, Undiagnosed Diseases Network , Genomics England Research Consortium , Beltran AS, Zimmermann MT, Temple B, Moy SS, Klee EW, Tan QK, Lorenzo DN. PMID: 34211179.
      View in: PubMed   Mentions:    Fields:    
    3. Hereditary Hemorrhagic Telangiectasia: The Convergence of Genotype, Phenotype, and Imaging in Modern Diagnosis and Management of a Multisystem Disease. Radiology. 2021 May 11; 203487. Hetts SW, Shieh JT, Ohliger MA, Conrad MB. PMID: 33973836.
      View in: PubMed   Mentions:    Fields:    
    4. Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann-Steiner syndrome. Am J Med Genet A. 2021 Mar 30. Sheppard SE, Campbell IM, Harr MH, Gold N, Li D, Bjornsson HT, Cohen JS, Fahrner JA, Fatemi A, Harris JR, Nowak C, Stevens CA, Grand K, Au M, Graham JM, Sanchez-Lara PA, Campo MD, Jones MC, Abdul-Rahman O, Alkuraya FS, Bassetti JA, Bergstrom K, Bhoj E, Dugan S, Kaplan JD, Derar N, Gripp KW, Hauser N, Innes AM, Keena B, Kodra N, Miller R, Nelson B, Nowaczyk MJ, Rahbeeni Z, Ben-Shachar S, Shieh JT, Slavotinek A, Sobering AK, Abbott MA, Allain DC, Amlie-Wolf L, Au PYB, Bedoukian E, Beek G, Barry J, Berg J, Bernstein JA, Cytrynbaum C, Chung BH, Donoghue S, Dorrani N, Eaton A, Flores-Daboub JA, Dubbs H, Felix CA, Fong CT, Fung JLF, Gangaram B, Goldstein A, Greenberg R, Ha TK, Hersh J, Izumi K, Kallish S, Kravets E, Kwok PY, Jobling RK, Knight Johnson AE, Kushner J, Lee BH, Levin B, Lindstrom K, Manickam K, Mardach R, McCormick E, McLeod DR, Mentch FD, Minks K, Muraresku C, Nelson SF, Porazzi P, Pichurin PN, Powell-Hamilton NN, Powis Z, Ritter A, Rogers C, Rohena L, Ronspies C, Schroeder A, Stark Z, Starr L, Stoler J, Suwannarat P, Velinov M, Weksberg R, Wilnai Y, Zadeh N, Zand DJ, Falk MJ, Hakonarson H, Zackai EH, Quintero-Rivera F. PMID: 33783954.
      View in: PubMed   Mentions:    Fields:    
    5. Segmental overgrowth and aneurysms due to mosaic PDGFRB p.(Tyr562Cys). Am J Med Genet A. 2021 05; 185(5):1430-1436. Chenbhanich J, Hu Y, Hetts S, Cooke D, Dowd C, Devine P, UCLA Clinical Genomics Center , Russell B, Kang SHL, Chang VY, Abla AA, Cornett P, Yeh I, Lee H, Martinez-Agosto JA, Frieden IJ, Shieh JT. PMID: 33683022.
      View in: PubMed   Mentions:    Fields:    
    6. Correction to: De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathy. Genet Med. 2021 Mar 08. Klöckner C, Sticht H, Zacher P, Popp B, Babcock HE, Bakker DP, Barwick K, Bonfert MV, Bönnemann CG, Brilstra EH, Care4Rare Canada Consortium , Chung WK, Clarke AJ, Devine P, Donkervoort S, Fraser JL, Friedman J, Gates A, Ghoumid J, Hobson E, Horvath G, Keller-Ramey J, Keren B, Kurian MA, Lee V, Leppig KA, Lundgren J, McDonald MT, McLaughlin HM, McTague A, Mefford HC, Mignot C, Mikati MA, Nava C, Raymond FL, Sampson JR, Sanchis-Juan A, Shashi V, Shieh JTC, Shinawi M, Slavotinek A, Stödberg T, Stong N, Sullivan JA, Taylor AC, Toler TL, van den Boogaard MJ, van der Crabben SN, van Gassen KLI, van Jaarsveld RH, Van Ziffle J, Wadley AF, Wagner M, Wigby K, Wortmann SB, Zarate YA, Møller RS, Lemke JR, Platzer K. PMID: 33686260.
      View in: PubMed   Mentions:    Fields:    
    7. DLG4-related synaptopathy: a new rare brain disorder. Genet Med. 2021 05; 23(5):888-899. Rodríguez-Palmero A, Boerrigter MM, Gómez-Andrés D, Aldinger KA, Marcos-Alcalde Í, Popp B, Everman DB, Lovgren AK, Arpin S, Bahrambeigi V, Beunders G, Bisgaard AM, Bjerregaard VA, Bruel AL, Challman TD, Cogné B, Coubes C, de Man SA, Denommé-Pichon AS, Dye TJ, Elmslie F, Feuk L, García-Miñaúr S, Gertler T, Giorgio E, Gruchy N, Haack TB, Haldeman-Englert CR, Haukanes BI, Hoyer J, Hurst ACE, Isidor B, Soller MJ, Kushary S, Kvarnung M, Landau YE, Leppig KA, Lindstrand A, Kleinendorst L, MacKenzie A, Mandrile G, Mendelsohn BA, Moghadasi S, Morton JE, Moutton S, Müller AJ, O'Leary M, Pacio-Míguez M, Palomares-Bralo M, Parikh S, Pfundt R, Pode-Shakked B, Rauch A, Repnikova E, Revah-Politi A, Ross MJ, Ruivenkamp CAL, Sarrazin E, Savatt JM, Schlüter A, Schönewolf-Greulich B, Shad Z, Shaw-Smith C, Shieh JT, Shohat M, Spranger S, Thiese H, Mau-Them FT, van Bon B, van de Burgt I, van de Laar IMBH, van Drie E, van Haelst MM, van Ravenswaaij-Arts CM, Verdura E, Vitobello A, Waldmüller S, Whiting S, Zweier C, Prada CE, de Vries BBA, Dobyns WB, Reiter SF, Gómez-Puertas P, Pujol A, Tümer Z. PMID: 33597769.
      View in: PubMed   Mentions:    Fields:    Translation:Humans
    8. A dyadic approach to the delineation of diagnostic entities in clinical genomics. Am J Hum Genet. 2021 01 07; 108(1):8-15. Biesecker LG, Adam MP, Alkuraya FS, Amemiya AR, Bamshad MJ, Beck AE, Bennett JT, Bird LM, Carey JC, Chung B, Clark RD, Cox TC, Curry C, Dinulos MBP, Dobyns WB, Giampietro PF, Girisha KM, Glass IA, Graham JM, Gripp KW, Haldeman-Englert CR, Hall BD, Innes AM, Kalish JM, Keppler-Noreuil KM, Kosaki K, Kozel BA, Mirzaa GM, Mulvihill JJ, Nowaczyk MJM, Pagon RA, Retterer K, Rope AF, Sanchez-Lara PA, Seaver LH, Shieh JT, Slavotinek AM, Sobering AK, Stevens CA, Stevenson DA, Tan TY, Tan WH, Tsai AC, Weaver DD, Williams MS, Zackai E, Zarate YA. PMID: 33417889.
      View in: PubMed   Mentions: 3     Fields:    Translation:Humans
    9. De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathy. Genet Med. 2021 04; 23(4):653-660. Klöckner C, Sticht H, Zacher P, Popp B, Babcock HE, Bakker DP, Barwick K, Bonfert MV, Bönnemann CG, Brilstra EH, Care4Rare Canada Consortium , Chung WK, Clarke AJ, Devine P, Donkervoort S, Fraser JL, Friedman J, Gates A, Ghoumid J, Hobson E, Horvath G, Keller-Ramey J, Keren B, Kurian MA, Lee V, Leppig KA, Lundgren J, McDonald MT, McLaughlin HM, McTague A, Mefford HC, Mignot C, Mikati MA, Nava C, Raymond FL, Sampson JR, Sanchis-Juan A, Shashi V, Shieh JTC, Shinawi M, Slavotinek A, Stödberg T, Stong N, Sullivan JA, Taylor AC, Toler TL, van den Boogaard MJ, van der Crabben SN, van Gassen KLI, van Jaarsveld RH, Van Ziffle J, Wadley AF, Wagner M, Wigby K, Wortmann SB, Zarate YA, Møller RS, Lemke JR, Platzer K. PMID: 33299146.
      View in: PubMed   Mentions:    Fields:    Translation:Humans
    10. The role of exome sequencing in newborn screening for inborn errors of metabolism. Nat Med. 2020 09; 26(9):1392-1397. 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. PMID: 32778825.
      View in: PubMed   Mentions: 11     Fields:    Translation:HumansPHPublic Health
    11. Genotype-phenotype correlation at codon 1740 of SETD2. Am J Med Genet A. 2020 09; 182(9):2037-2048. 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. PMID: 32710489.
      View in: PubMed   Mentions:    Fields:    Translation:Humans
    12. Activating variants in PDGFRB result in a spectrum of disorders responsive to imatinib monotherapy. Am J Med Genet A. 2020 07; 182(7):1576-1591. 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. PMID: 32500973.
      View in: PubMed   Mentions: 1     Fields:    Translation:Humans
    13. Automated syndrome diagnosis by three-dimensional facial imaging. Genet Med. 2020 10; 22(10):1682-1693. 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. PMID: 32475986.
      View in: PubMed   Mentions: 8     Fields:    Translation:Humans
    14. De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathy. medRxiv. 2020 May 15; 2020.05.11.20095141. 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. .
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    15. SUN-690 HNF4A Mutation in Siblings with Diazoxide Responsive Congenital Hyperinsulinism. Journal of the Endocrine Society. 2020 May 8; 4(Supplement_1):sun-690-. Ayca Erkin-Cakmak, Hannah Chesser, Joseph Shieh, Christine Ferrara, Stephen Eric Gitelman, Gina Capodanno. .
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    16. Functional characterization of a novel PBX1 de novo missense variant identified in a patient with syndromic congenital heart disease. Hum Mol Genet. 2020 05 08; 29(7):1068-1082. Alankarage D, Szot JO, Pachter N, Slavotinek A, Selleri L, Shieh JT, Winlaw D, Giannoulatou E, Chapman G, Dunwoodie SL. PMID: 31625560.
      View in: PubMed   Mentions: 3     Fields:    
    17. MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis. Brain. 2020 01 01; 143(1):55-68. Mak CCY, Doherty D, Lin AE, Vegas N, Cho MT, Viot G, Dimartino C, Weisfeld-Adams JD, Lessel D, Joss S, Li C, Gonzaga-Jauregui C, Zarate YA, Ehmke N, Horn D, Troyer C, Kant SG, Lee Y, Ishak GE, Leung G, Barone Pritchard A, Yang S, Bend EG, Filippini F, Roadhouse C, Lebrun N, Mehaffey MG, Martin PM, Apple B, Millan F, Puk O, Hoffer MJV, Henderson LB, McGowan R, Wentzensen IM, Pei S, Zahir FR, Yu M, Gibson WT, Seman A, Steeves M, Murrell JR, Luettgen S, Francisco E, Strom TM, Amlie-Wolf L, Kaindl AM, Wilson WG, Halbach S, Basel-Salmon L, Lev-El N, Denecke J, Vissers LELM, Radtke K, Chelly J, Zackai E, Friedman JM, Bamshad MJ, Nickerson DA, University of Washington Center for Mendelian Genomics , Reid RR, Devriendt K, Chae JH, Stolerman E, McDougall C, Powis Z, Bienvenu T, Tan TY, Orenstein N, Dobyns WB, Shieh JT, Choi M, Waggoner D, Gripp KW, Parker MJ, Stoler J, Lyonnet S, Cormier-Daire V, Viskochil D, Hoffman TL, Amiel J, Chung BHY, Gordon CT. PMID: 31834374.
      View in: PubMed   Mentions: 3     Fields:    Translation:HumansCells
    18. A novel truncating variant in ring finger protein 113A (RNF113A) confirms the association of this gene with X-linked trichothiodystrophy. Am J Med Genet A. 2020 03; 182(3):513-520. Mendelsohn BA, Beleford DT, Abu-El-Haija A, Alsaleh NS, Rahbeeni Z, Martin PM, Rego S, Huang A, Capodanno G, Shieh JT, Van Ziffle J, Risch N, Alkuraya FS, Slavotinek AM. PMID: 31880405.
      View in: PubMed   Mentions:    Fields:    Translation:Humans
    19. Optimizing genetics online resources for diverse readers. Genet Med. 2020 03; 22(3):640-645. Chang J, Penon-Portmann M, Shieh JT. PMID: 31767985.
      View in: PubMed   Mentions:    Fields:    Translation:Humans
    20. X-linked duplication copy number variation in a familial overgrowth condition. Am J Med Genet C Semin Med Genet. 2019 12; 181(4):644-649. Ha TK, Mardy AH, Beleford D, Spanier A, Wayman BV, Penon-Portmann M, Wiita AP, Shieh JT. PMID: 31762227.
      View in: PubMed   Mentions: 1     Fields:    Translation:Humans
    21. Disruptive variants of CSDE1 associate with autism and interfere with neuronal development and synaptic transmission. Sci Adv. 2019 09; 5(9):eaax2166. Guo H, Li Y, Shen L, Wang T, Jia X, Liu L, Xu T, Ou M, Hoekzema K, Wu H, Gillentine MA, Liu C, Ni H, Peng P, Zhao R, Zhang Y, Phornphutkul C, Stegmann APA, Prada CE, Hopkin RJ, Shieh JT, McWalter K, Monaghan KG, van Hasselt PM, van Gassen K, Bai T, Long M, Han L, Quan Y, Chen M, Zhang Y, Li K, Zhang Q, Tan J, Zhu T, Liu Y, Pang N, Peng J, Scott DA, Lalani SR, Azamian M, Mancini GMS, Adams DJ, Kvarnung M, Lindstrand A, Nordgren A, Pevsner J, Osei-Owusu IA, Romano C, Calabrese G, Galesi O, Gecz J, Haan E, Ranells J, Racobaldo M, Nordenskjold M, Madan-Khetarpal S, Sebastian J, Ball S, Zou X, Zhao J, Hu Z, Xia F, Liu P, Rosenfeld JA, de Vries BBA, Bernier RA, Xu ZD, Li H, Xie W, Hufnagel RB, Eichler EE, Xia K. PMID: 31579823.
      View in: PubMed   Mentions: 10     Fields:    Translation:HumansAnimalsCells
    22. Phenotype characterisation of TBX4 mutation and deletion carriers with neonatal and paediatric pulmonary hypertension. Eur Respir J. 2019 08; 54(2). Galambos C, Mullen MP, Shieh JT, Schwerk N, Kielt MJ, Ullmann N, Boldrini R, Stucin-Gantar I, Haass C, Bansal M, Agrawal PB, Johnson J, Peca D, Surace C, Cutrera R, Pauciulo MW, Nichols WC, Griese M, Ivy D, Abman SH, Austin ED, Danhaive O. PMID: 31151956.
      View in: PubMed   Mentions: 16     Fields:    Translation:Humans
    23. Genetics workforce: distribution of genetics services and challenges to health care in California. Genet Med. 2020 01; 22(1):227-231. Penon-Portmann M, Chang J, Cheng M, Shieh JT. PMID: 31417191.
      View in: PubMed   Mentions: 5     Fields:    Translation:Humans
    24. Mechanisms of Resistance to EGFR Inhibition Reveal Metabolic Vulnerabilities in Human GBM. . 2019 09; 18(9):1565-1576. McKinney A, Lindberg OR, Engler JR, Chen KY, Kumar A, Gong H, Lu KV, Simonds EF, Cloughesy TF, Liau LM, Prados M, Bollen AW, Berger MS, Shieh JTC, James CD, Nicolaides TP, Yong WH, Lai A, Hegi ME, Weiss WA, Phillips JJ. PMID: 31270152.
      View in: PubMed   Mentions:
    25. Case Report of Floating-Harbor Syndrome With Bilateral Cleft Lip. Cleft Palate Craniofac J. 2020 01; 57(1):132-136. Ko J, Pomerantz JH, Perry H, Shieh JT, Slavotinek AM, Oberoi S, Klein OD. PMID: 31248274.
      View in: PubMed   Mentions: 1     Fields:    Translation:Humans
    26. Schimke immunoosseous dysplasia and management considerations for vascular risks. . 2019 07; 179(7):1246-1252. Beleford DT, Diab M, Qubty WF, Malloy MJ, Long RK, Shieh JT. PMID: 31039288.
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    27. Extracutaneous manifestations in phacomatosis cesioflammea and cesiomarmorata: Case series and literature review. . 2019 06; 179(6):966-977. Kumar A, Zastrow DB, Kravets EJ, Beleford D, Ruzhnikov MRZ, Grove ME, Dries AM, Kohler JN, Waggott DM, Yang Y, Huang Y, Undiagnosed Diseases Network , Mackenzie KM, Eng CM, Fisher PG, Ashley EA, Teng JM, Stevenson DA, Shieh JT, Wheeler MT, Bernstein JA. PMID: 30920161.
      View in: PubMed   Mentions:
    28. Emerging RAS superfamily conditions involving GTPase function. PLoS Genet. 2019 02; 15(2):e1007870. Shieh JTC. PMID: 30763311.
      View in: PubMed   Mentions:    Fields:    Translation:HumansCells
    29. Genomic Sequencing Expansion and Incomplete Penetrance. Pediatrics. 2019 01; 143(Suppl 1):S22-S26. Shieh JTC. PMID: 30600267.
      View in: PubMed   Mentions: 3     Fields:    Translation:Humans
    30. The genetic landscape of anaplastic pleomorphic xanthoastrocytoma. Brain Pathol. 2019 01; 29(1):85-96. 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 JTC, Solomon DA. PMID: 30051528.
      View in: PubMed   Mentions: 15     Fields:    Translation:HumansCells
    31. Using exome sequencing to decipher family history in a healthy individual: Comparison of pathogenic and population MTM1 variants. Mol Genet Genomic Med. 2018 09; 6(5):722-727. Penon M, Zahed H, Berger V, Su I, Shieh JT. PMID: 30047259.
      View in: PubMed   Mentions: 1     Fields:    Translation:Humans
    32. Mutations in Hnrnpa1 cause congenital heart defects. JCI Insight. 2018 01 25; 3(2). Yu Z, Tang PL, Wang J, Bao S, Shieh JT, 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. PMID: 29367466.
      View in: PubMed   Mentions: 4     Fields:    Translation:HumansAnimalsCells
    33. 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 12 15; 26(24):4849-4860. 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. PMID: 29036646.
      View in: PubMed   Mentions: 9     Fields:    Translation:HumansAnimalsCells
    34. PATH-07. FAMILIAL MELANOMA-ASTROCYTOMA SYNDROME: SYNCHRONOUS DIFFUSE ASTROCYTOMA AND PLEOMORPHIC XANTHOASTROCYTOMA IN A PATIENT WITH GERMLINE CDKN2A/B DELETION AND A SIGNIFICANT FAMILY HISTORY. Neuro-Oncology. 2017 Nov 6; 19(suppl_6):vi171-vi172. Winward Choy, Andrew K Chan, Seunggu J Han, Daniah Beleford, Manish K Aghi, Mitchel S Berger, Joseph T Shieh, Andrew W Bollen, Arie Perry, Joanna J Phillips, Nicholas Butowski, David A Solomon. .
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    35. Potential Role of Genomic Sequencing in the Early Diagnosis of Treatable Genetic Conditions. J Pediatr. 2017 10; 189:222-226.e1. Zahed H, Sparks TN, Li B, Alsadah A, Shieh JTC. PMID: 28947054.
      View in: PubMed   Mentions: 1     Fields:    Translation:Humans
    36. 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. Chan AK, Han SJ, Choy W, Beleford D, Aghi MK, Berger MS, Shieh JT, Bollen AW, Perry A, Phillips JJ, Butowski N, Solomon DA. PMID: 28699883.
      View in: PubMed   Mentions: 5     Fields:    Translation:Humans
    37. Pierpont syndrome associated with the p.Tyr446Cys missense mutation in TBL1XR1. Eur J Med Genet. 2017 Oct; 60(10):504-508. Slavotinek A, Pua H, Hodoglugil U, Abadie J, Shieh J, Van Ziffle J, Kvale M, Lee H, Kwok PY, Risch N, Sabbadini M. PMID: 28687524.
      View in: PubMed   Mentions: 4     Fields:    Translation:HumansCells
    38. 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. Jansen S, Geuer S, Pfundt R, Brough R, Ghongane P, Herkert JC, Marco EJ, Willemsen MH, Kleefstra T, Hannibal M, Shieh JT, 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, Deciphering Developmental Disorders Study , Lord CJ, Vissers LE, de Vries BB. PMID: 28343630.
      View in: PubMed   Mentions: 14     Fields:    Translation:Humans
    39. Newborn Sequencing in Genomic Medicine and Public Health. Pediatrics. 2017 Feb; 139(2). 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 JT, Veeraraghavan N, Watson MS, Willig L, Yu TW, Urv T, Wise AL. PMID: 28096516.
      View in: PubMed   Mentions: 40     Fields:    Translation:HumansPHPublic Health
    40. GBM heterogeneity as a function of variable epidermal growth factor receptor variant III activity. Oncotarget. 2016 Nov 29; 7(48):79101-79116. Lindberg OR, McKinney A, Engler JR, Koshkakaryan G, Gong H, Robinson AE, Ewald AJ, Huillard E, David James C, Molinaro AM, Shieh JT, Phillips JJ. PMID: 27738329.
      View in: PubMed   Mentions: 8     Fields:    Translation:HumansAnimalsCells
    41. Uveal Ganglioneuroma due to Germline PTEN Mutation (Cowden Syndrome) Presenting as Unilateral Infantile Glaucoma. Ocul Oncol Pathol. 2017 Jul; 3(2):122-128. DeParis SW, Bloomer M, Han Y, Vagefi MR, Shieh JTC, Solomon DA, Grenert J, de Alba Campomanes AG. PMID: 28868283.
      View in: PubMed   Mentions:
    42. Missense-depleted regions in population exomes implicate ras superfamily nucleotide-binding protein alteration in patients with brain malformation. NPJ Genom Med. 2016; 1. 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 JT. PMID: 28868155.
      View in: PubMed   Mentions:
    43. Activating NRF1-BRAF and ATG7-RAF1 fusions in anaplastic pleomorphic xanthoastrocytoma without BRAF p.V600E mutation. Acta Neuropathol. 2016 11; 132(5):757-760. Phillips JJ, Gong H, Chen K, Joseph NM, van Ziffle J, Jin LW, Bastian BC, Bollen AW, Perry A, Nicolaides T, Solomon DA, Shieh JT. PMID: 27624885.
      View in: PubMed   Mentions: 10     Fields:    Translation:HumansCells
    44. Molecular Regulation of Cardiogenesis. Epstein\u0027s Inborn Errors of Development. 2016 Jun 1; 107-112. Deepak Srivastava, Joseph T. C. Shieh. .
      View in: Publisher Site   Mentions:
    45. Clinical and ultrastructural spectrum of diffuse lung disease associated with surfactant protein C mutations. Eur J Hum Genet. 2016 May; 24(5):780. Peca D, Boldrini R, Johannson J, Shieh JT, 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. PMID: 27075519.
      View in: PubMed   Mentions:    Fields:    
    46. Pathogenetics of alveolar capillary dysplasia with misalignment of pulmonary veins. Hum Genet. 2016 May; 135(5):569-586. 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 YWY, Mok GTK, 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. PMID: 27071622.
      View in: PubMed   Mentions: 28     Fields:    Translation:HumansCells
    47. Prenatal Findings Leading to Early Diagnosis of X-Linked Inhibitor of Apoptosis Protein (XIAP) Deficiency. Journal of Allergy and Clinical Immunology. 2016 Feb 1; 137(2):ab223. Angela Chang, Joseph Shieh, Morna J. Dorsey, Jennifer M. Puck. .
      View in: Publisher Site   Mentions:
    48. CBIO-31MECHANISMS OF RESISTANCE TO EGFR INHIBITION REVEAL METABOLIC VULNERABILITIES IN HUMAN GBM. Neuro-Oncology. 2015 Nov 1; 17(suppl_5):v61-v61. Andrew McKinney, Olle Lindberg, Jane Engler, Henry Gong, Joseph Shieh, Joanna Phillips. .
      View in: Publisher Site   Mentions:
    49. Novel SMC1A frameshift mutations in children with developmental delay and epilepsy. Eur J Med Genet. 2015 Oct; 58(10):562-8. Goldstein JH, Tim-Aroon T, Shieh J, Merrill M, Deeb KK, Zhang S, Bass NE, Bedoyan JK. PMID: 26386245.
      View in: PubMed   Mentions: 6     Fields:    Translation:HumansCells
    50. Response to Finsterer and Stöllberger "Explanations for discordance of noncompaction in monozygotic twins". . 2015 Oct; 167A(10):2495. Shieh JT. PMID: 26198164.
      View in: PubMed   Mentions:
    51. Clinical and ultrastructural spectrum of diffuse lung disease associated with surfactant protein C mutations. Eur J Hum Genet. 2015 Aug; 23(8):1033-41. Peca D, Boldrini R, Johannson J, Shieh JT, 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. PMID: 25782673.
      View in: PubMed   Mentions: 10     Fields:    Translation:Humans
    52. Prioritizing genes for X-linked diseases using population exome data. Hum Mol Genet. 2015 Feb 01; 24(3):599-608. Ge X, Kwok PY, Shieh JT. PMID: 25217573.
      View in: PubMed   Mentions: 7     Fields:    Translation:HumansCells
    53. Genetics of Renal Malformations. Signs and Symptoms of Genetic Conditions. 2014 May 1; 380-386. Joseph T. C. Shieh. .
      View in: Publisher Site   Mentions:
    54. Congenital Heart Defects. Signs and Symptoms of Genetic Conditions. 2014 May 1; 368-379. Tom Cushing, Joseph T. C. Shieh. .
      View in: Publisher Site   Mentions:
    55. 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. 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 JT, Southern JF, Wargon O, Siegel DH, Drolet BA. PMID: 24079520.
      View in: PubMed   Mentions: 12     Fields:    Translation:Humans
    56. Twin Mitochondrial Sequence Analysis. Mol Genet Genomic Med. 2013 Sep 01; 1(3):174-186. Bouhlal Y, Martinez S, Gong H, Dumas K, Shieh JT. PMID: 24040623.
      View in: PubMed   Mentions: 4     Fields:    
    57. 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. Shieh JT, Jefferies JL, Chin AJ. PMID: 23843328.
      View in: PubMed   Mentions:    Fields:    Translation:HumansAnimals
    58. Implications of genetic testing in noncompaction/hypertrabeculation. Am J Med Genet C Semin Med Genet. 2013 Aug; 163C(3):206-11. Shieh JT. PMID: 23843345.
      View in: PubMed   Mentions: 1     Fields:    Translation:Humans
    59. Monoamniotic monochorionic twins discordant for noncompaction cardiomyopathy. . 2013 Jun; 161A(6):1339-44. Ng D, Bouhlal Y, Ursell PC, Shieh JT. PMID: 23636980.
      View in: PubMed   Mentions:
    60. Copy number variation analysis in 98 individuals with PHACE syndrome. J Invest Dermatol. 2013 Mar; 133(3):677-684. Siegel DH, Shieh JTC, 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. PMID: 23096700.
      View in: PubMed   Mentions: 10     Fields:    Translation:HumansCells
    61. Candidate locus analysis for PHACE syndrome. . 2012 Jun; 158A(6):1363-7. Mitchell S, Siegel DH, Shieh JT, Stevenson DA, Grimmer JF, Lewis T, Metry D, Frieden I, Blei F, Kayserili H, Drolet BA, Bayrak-Toydemir P. PMID: 22544659.
      View in: PubMed   Mentions:
    62. Consanguinity and the risk of congenital heart disease. . 2012 May; 158A(5):1236-41. Shieh JT, Bittles AH, Hudgins L. PMID: 22488956.
      View in: PubMed   Mentions:
    63. Elevated miR-499 levels blunt the cardiac stress response. PLoS One. 2011 May 09; 6(5):e19481. Shieh JT, Huang Y, Gilmore J, Srivastava D. PMID: 21573063.
      View in: PubMed   Mentions: 53     Fields:    Translation:HumansAnimals
    64. Array comparative genomic hybridization analysis in patients with anophthalmia, microphthalmia, and coloboma. Genet Med. 2011 May; 13(5):437-42. Raca G, Jackson CA, Kucinskas L, Warman B, Shieh JT, Schneider A, Bardakjian TM, Schimmenti LA. PMID: 21285886.
      View in: PubMed   Mentions: 12     Fields:    Translation:Humans
    65. A genome-wide screen reveals a role for microRNA-1 in modulating cardiac cell polarity. Dev Cell. 2011 Apr 19; 20(4):497-510. King IN, Qian L, Liang J, Huang Y, Shieh JT, Kwon C, Srivastava D. PMID: 21497762.
      View in: PubMed   Mentions: 12     Fields:    Translation:Animals
    66. Heart malformation: what are the chances it could happen again? Circulation. 2009 Jul 28; 120(4):269-71. Shieh JT, Srivastava D. PMID: 19597046.
      View in: PubMed   Mentions: 2     Fields:    Translation:HumansPHPublic Health
    67. 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. Shieh JT, Berquist WE, Zhang Q, Chou PC, Wong LJ, Enns GM. PMID: 19502998.
      View in: PubMed   Mentions: 3     Fields:    Translation:Humans
    68. Clinical and molecular features of mitochondrial DNA depletion due to mutations in deoxyguanosine kinase. Hum Mutat. 2008 Feb; 29(2):330-1. 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. PMID: 18205204.
      View in: PubMed   Mentions: 42     Fields:    Translation:Humans
    69. Neuroimaging findings in macrocephaly-capillary malformation: a longitudinal study of 17 patients. . 2007 Dec 15; 143A(24):2981-3008. 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. PMID: 18000912.
      View in: PubMed   Mentions:
    70. Clinical features and management issues in Mowat-Wilson syndrome. . 2006 Dec 15; 140(24):2730-41. Adam MP, Schelley S, Gallagher R, Brady AN, Barr K, Blumberg B, Shieh JT, Graham J, Slavotinek A, Martin M, Keppler-Noreuil K, Storm AL, Hudgins L. PMID: 17103451.
      View in: PubMed   Mentions:
    71. 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. Shieh JT, Swidler P, Martignetti JA, Ramirez MC, Balboni I, Kaplan J, Kennedy J, Abdul-Rahman O, Enns GM, Sandborg C, Slavotinek A, Hoyme HE. PMID: 17043134.
      View in: PubMed   Mentions: 7     Fields:    Translation:Humans
    72. Nablus mask-like facial syndrome is caused by a microdeletion of 8q detected by array-based comparative genomic hybridization. . 2006 Jun 15; 140(12):1267-73. Shieh JT, Aradhya S, Novelli A, Manning MA, Cherry AM, Brumblay J, Salpietro CD, Bernardini L, Dallapiccola B, Hoyme HE. PMID: 16691576.
      View in: PubMed   Mentions:
    73. Triplication of 8p22-8p23 in a patient with features similar to Kabuki syndrome. . 2006 Jan 15; 140(2):170-3. Shieh JT, Hudgins L, Cherry AM, Shen Z, Hoyme HE. PMID: 16353235.
      View in: PubMed   Mentions:
    74. 339 NABLUS MASK-LIKE FACIAL SYNDROME IS CAUSED BY DELETION IN 8q21-8q22 DETECTED BY ARRAY-BASED COMPARATIVE GENOMIC HYBRIDIZTION. Journal of Investigative Medicine. 2006 Jan 1; 54(1):s138. J. T.C. Shieh, S. Aradhya, M. A. Manning, A. M. Cherry, B. Dallapiccola, H. E. Hoyme. .
      View in: Publisher Site   Mentions:
    75. Interaction with decay-accelerating factor facilitates coxsackievirus B infection of polarized epithelial cells. J Virol. 2002 Sep; 76(18):9474-80. Shieh JT, Bergelson JM. PMID: 12186929.
      View in: PubMed   Mentions: 28     Fields:    Translation:HumansAnimalsCells
    76. CD4/CXCR4-independent infection of human astrocytes by a T-tropic strain of HIV-1. J Neurovirol. 2001 Apr; 7(2):155-62. Schweighardt B, Shieh JT, Atwood WJ. PMID: 11517388.
      View in: PubMed   Mentions: 14     Fields:    Translation:HumansCells
    77. Characterization of cultured microglia that can be infected by HIV-1. J Neurovirol. 2000 May; 6 Suppl 1:S53-60. Albright AV, Shieh JT, O'Connor MJ, González-Scarano F. PMID: 10871766.
      View in: PubMed   Mentions: 22     Fields:    Translation:HumansCells
    78. 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. Liu MA, Friedman A, Oliff AI, Tai J, Martinez D, Deck RR, Shieh JT, Jenkins TD, Donnelly JJ, Hawe LA. PMID: 1533934.
      View in: PubMed   Mentions: 11     Fields:    Translation:HumansAnimalsCellsPHPublic Health
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