Joseph Shieh, MD, PhD
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Title(s) | Associate Professor, Pediatrics |
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School | School of Medicine |
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Address | 513 Parnassus Ave, HSW San Francisco CA 94143
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Phone | 415-476-2757 |
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vCard | Download vCard |
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Biography University of California, San Francisco | Fellowship | | Genetics | University of Pennsylvania | M.D. | 2002 | School of Medicine | University of Pennsylvania | Ph.D. | 1999 | Immunology |
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.
Research ORNG Applications Bibliographic
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De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathy. Genet Med. 2020 Dec 10.
Klöckner C, Sticht H, Zacher P, Popp B, Babcock HE, Bakker DP, Barwick K, Bonfert MV, Bönnemann CG, Brilstra EH, 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, 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:
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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: 2 Fields: Translation: HumansPHPublic Health
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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:
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Activating variants in PDGFRB result in a spectrum of disorders responsive to imatinib monotherapy. . 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:
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Automated syndrome diagnosis by three-dimensional facial imaging. Genet Med. 2020 Oct; 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: 2 Fields:
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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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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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Functional characterization of a novel PBX1 de novo missense variant identified in a patient with syndromic congenital heart disease. Hum Mol Genet. 2020 May 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: 2 Fields:
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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, 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: 1 Fields: Translation: HumansCells
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A novel truncating variant in ring finger protein 113A (RNF113A) confirms the association of this gene with X-linked trichothiodystrophy. . 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:
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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:
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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
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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: 3 Fields: Translation: HumansAnimalsCells
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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: 12 Fields: Translation: Humans
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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: 2 Fields: Translation: Humans
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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.
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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: Fields: Translation: Humans
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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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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, Mackenzie KM, Eng CM, Fisher PG, Ashley EA, Teng JM, Stevenson DA, Shieh JT, Wheeler MT, Bernstein JA. PMID: 30920161.
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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
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Genomic Sequencing Expansion and Incomplete Penetrance. Pediatrics. 2019 01; 143(Suppl 1):S22-S26.
Shieh JTC. PMID: 30600267.
View in: PubMed Mentions: 2 Fields: Translation: Humans
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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: 7 Fields: Translation: HumansCells
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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: Fields: Translation: Humans
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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: 1 Fields: Translation: HumansAnimalsCells
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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: 6 Fields: Translation: HumansAnimalsCells
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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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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
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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: 4 Fields: Translation: Humans
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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: 3 Fields: Translation: HumansCells
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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, Lord CJ, Vissers LE, de Vries BB. PMID: 28343630.
View in: PubMed Mentions: 5 Fields: Translation: Humans
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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: 25 Fields: Translation: HumansPHPublic Health
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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: 6 Fields: Translation: HumansAnimalsCells
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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.
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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.
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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: 7 Fields: Translation: HumansCells
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Molecular Regulation of Cardiogenesis. Epstein\u0027s Inborn Errors of Development. 2016 Jun 1; 107-112.
Deepak Srivastava, Joseph T. C. Shieh. .
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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:
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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: 21 Fields: Translation: HumansCells
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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. .
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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. .
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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: 5 Fields: Translation: HumansCells
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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:
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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
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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: 4 Fields: Translation: HumansCells
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Genetics of Renal Malformations. Signs and Symptoms of Genetic Conditions. 2014 May 1; 380-386.
Joseph T. C. Shieh. .
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Congenital Heart Defects. Signs and Symptoms of Genetic Conditions. 2014 May 1; 368-379.
Tom Cushing, Joseph T. C. Shieh. .
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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
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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: 3 Fields:
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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
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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
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Monoamniotic monochorionic twins discordant for noncompaction cardiomyopathy. . 2013 Jun; 161A(6):1339-44.
Ng D, Bouhlal Y, Ursell PC, Shieh JT. PMID: 23636980.
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X Chromosome-Inactivation Patterns in 31 Individuals with PHACE Syndrome. Mol Syndromol. 2013 Mar; 4(3):114-8.
Sullivan CT, Christian SL, Shieh JT, Metry D, Blei F, Krol A, Drolet BA, Frieden IJ, Dobyns WB, Siegel DH. PMID: 23653582.
View in: PubMed Mentions:
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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
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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:
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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:
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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: 51 Fields: Translation: HumansAnimals
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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: 11 Fields: Translation: Humans
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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
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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
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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
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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: 40 Fields: Translation: Humans
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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:
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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:
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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: 6 Fields: Translation: Humans
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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:
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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:
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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. .
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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: 27 Fields: Translation: HumansAnimalsCells
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High-throughput array production using precision glass syringes. Biotechniques. 2002 Jun; 32(6):1360-2, 1364-5.
Shieh J, To C, Carramao J, Nishimura N, Maruta Y, Hashimoto Y, Wright D, Wu HC, Azarani A. PMID: 12074167.
View in: PubMed Mentions: 2 Fields:
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The coxsackievirus and adenovirus receptor is a transmembrane component of the tight junction. Proc Natl Acad Sci U S A. 2001 Dec 18; 98(26):15191-6.
Cohen CJ, Shieh JT, Pickles RJ, Okegawa T, Hsieh JT, Bergelson JM. PMID: 11734628.
View in: PubMed Mentions: 198 Fields: Translation: HumansAnimalsCells
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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: 13 Fields: Translation: HumansCells
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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: 17 Fields: Translation: HumansCells
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Determinants of syncytium formation in microglia by human immunodeficiency virus type 1: role of the V1/V2 domains. J Virol. 2000 Jan; 74(2):693-701.
Shieh JT, Martín J, Baltuch G, Malim MH, González-Scarano F. PMID: 10623731.
View in: PubMed Mentions: 27 Fields: Translation: HumansCells
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Microglia express CCR5, CXCR4, and CCR3, but of these, CCR5 is the principal coreceptor for human immunodeficiency virus type 1 dementia isolates. J Virol. 1999 Jan; 73(1):205-13.
Albright AV, Shieh JT, Itoh T, Lee B, Pleasure D, O'Connor MJ, Doms RW, González-Scarano F. PMID: 9847323.
View in: PubMed Mentions: 95 Fields: Translation: HumansCells
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Chemokine receptor utilization by human immunodeficiency virus type 1 isolates that replicate in microglia. J Virol. 1998 May; 72(5):4243-9.
Shieh JT, Albright AV, Sharron M, Gartner S, Strizki J, Doms RW, González-Scarano F. PMID: 9557714.
View in: PubMed Mentions: 51 Fields: Translation: HumansCells
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Use of primary CNS cultures to investigate HIV neurotropism. J Neurovirol. 1997 May; 3 Suppl 1:S11-3.
González-Scarano F, Strizki JM, Albright A, Shieh J. PMID: 9179782.
View in: PubMed Mentions: 3 Fields: Translation: HumansCells
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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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Year | Publications |
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1992 | 1 | 1997 | 1 | 1998 | 1 | 1999 | 1 | 2000 | 2 | 2001 | 2 | 2002 | 2 | 2006 | 5 | 2007 | 1 | 2008 | 1 | 2009 | 2 | 2011 | 3 | 2012 | 4 | 2013 | 5 | 2014 | 3 | 2015 | 4 | 2016 | 8 | 2017 | 7 | 2018 | 3 | 2019 | 12 | 2020 | 9 |
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This graph shows the number and percent of publications by field.
Fields are based on how the National Library of Medicine (NLM) classifies the publications' journals and might not represent the specific topics of the publications.
Note that an individual publication can be assigned to more than one field. As a result, the publication counts in this graph might add up to more than the number of publications the person has written.
To see the data as text, click here.
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