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Items: 50


Genetics workforce: distribution of genetics services and challenges to health care in California.

Penon-Portmann M, Chang J, Cheng M, Shieh JT.

Genet Med. 2019 Aug 16. doi: 10.1038/s41436-019-0628-5. [Epub ahead of print]


Mechanisms of Resistance to EGFR Inhibition Reveal Metabolic Vulnerabilities in Human GBM.

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.

Mol Cancer Ther. 2019 Sep;18(9):1565-1576. doi: 10.1158/1535-7163.MCT-18-1330. Epub 2019 Jul 3.


Case Report of Floating-Harbor Syndrome With Bilateral Cleft Lip.

Ko J, Pomerantz JH, Perry H, Shieh JT, Slavotinek AM, Oberoi S, Klein OD.

Cleft Palate Craniofac J. 2019 Jun 27:1055665619858257. doi: 10.1177/1055665619858257. [Epub ahead of print]


Phenotype characterisation of TBX4 mutation and deletion carriers with neonatal and paediatric pulmonary hypertension.

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.

Eur Respir J. 2019 Aug 22;54(2). pii: 1801965. doi: 10.1183/13993003.01965-2018. Print 2019 Aug.


Schimke immunoosseous dysplasia and management considerations for vascular risks.

Beleford DT, Diab M, Qubty WF, Malloy MJ, Long RK, Shieh JT.

Am J Med Genet A. 2019 Jul;179(7):1246-1252. doi: 10.1002/ajmg.a.61148. Epub 2019 Apr 30.


Extracutaneous manifestations in phacomatosis cesioflammea and cesiomarmorata: Case series and literature review.

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.

Am J Med Genet A. 2019 Jun;179(6):966-977. doi: 10.1002/ajmg.a.61134. Epub 2019 Mar 28.


Emerging RAS superfamily conditions involving GTPase function.

Shieh JTC.

PLoS Genet. 2019 Feb 14;15(2):e1007870. doi: 10.1371/journal.pgen.1007870. eCollection 2019 Feb. No abstract available.


Genomic Sequencing Expansion and Incomplete Penetrance.

Shieh JTC.

Pediatrics. 2019 Jan;143(Suppl 1):S22-S26. doi: 10.1542/peds.2018-1099E.


The genetic landscape of anaplastic pleomorphic xanthoastrocytoma.

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.

Brain Pathol. 2019 Jan;29(1):85-96. doi: 10.1111/bpa.12639. Epub 2018 Nov 6.


Using exome sequencing to decipher family history in a healthy individual: Comparison of pathogenic and population MTM1 variants.

Penon M, Zahed H, Berger V, Su I, Shieh JT.

Mol Genet Genomic Med. 2018 Sep;6(5):722-727. doi: 10.1002/mgg3.405. Epub 2018 Jul 25.


Mutations in Hnrnpa1 cause congenital heart defects.

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.

JCI Insight. 2018 Jan 25;3(2). pii: 98555. doi: 10.1172/jci.insight.98555. eCollection 2018 Jan 25.


Potential Role of Genomic Sequencing in the Early Diagnosis of Treatable Genetic Conditions.

Zahed H, Sparks TN, Li B, Alsadah A, Shieh JTC.

J Pediatr. 2017 Oct;189:222-226.e1. doi: 10.1016/j.jpeds.2017.06.040.


Uveal Ganglioneuroma due to Germline PTEN Mutation (Cowden Syndrome) Presenting as Unilateral Infantile Glaucoma.

DeParis SW, Bloomer M, Han Y, Vagefi MR, Shieh JTC, Solomon DA, Grenert J, de Alba Campomanes AG.

Ocul Oncol Pathol. 2017 Jul;3(2):122-128. doi: 10.1159/000450552. Epub 2016 Nov 22.


Familial melanoma-astrocytoma syndrome: synchronous diffuse astrocytoma and pleomorphic xanthoastrocytoma in a patient with germline CDKN2A/B deletion and a significant family history.

Chan AK, Han SJ, Choy W, Beleford D, Aghi MK, Berger MS, Shieh JT, Bollen AW, Perry A, Phillips JJ, Butowski N, Solomon DA.

Clin Neuropathol. 2017 Sep/Oct;36(5):213-221. doi: 10.5414/NP301022.


De Novo Truncating Mutations in the Last and Penultimate Exons of PPM1D Cause an Intellectual Disability Syndrome.

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.

Am J Hum Genet. 2017 Apr 6;100(4):650-658. doi: 10.1016/j.ajhg.2017.02.005. Epub 2017 Mar 23.


Newborn Sequencing in Genomic Medicine and Public Health.

Berg JS, Agrawal PB, Bailey DB Jr, 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.

Pediatrics. 2017 Feb;139(2). pii: e20162252. doi: 10.1542/peds.2016-2252. Epub 2017 Jan 17.


Activating NRF1-BRAF and ATG7-RAF1 fusions in anaplastic pleomorphic xanthoastrocytoma without BRAF p.V600E mutation.

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.

Acta Neuropathol. 2016 Nov;132(5):757-760. Epub 2016 Sep 13. No abstract available.


GBM heterogeneity as a function of variable epidermal growth factor receptor variant III activity.

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.

Oncotarget. 2016 Nov 29;7(48):79101-79116. doi: 10.18632/oncotarget.12600.


Clinical and ultrastructural spectrum of diffuse lung disease associated with surfactant protein C mutations.

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.

Eur J Hum Genet. 2016 May;24(5):780. doi: 10.1038/ejhg.2016.12. No abstract available.


Missense-depleted regions in population exomes implicate ras superfamily nucleotide-binding protein alteration in patients with brain malformation.

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.

NPJ Genom Med. 2016;1. pii: 16036. doi: 10.1038/npjgenmed.2016.36. Epub 2016 Oct 5.


Response to Finsterer and Stöllberger "Explanations for discordance of noncompaction in monozygotic twins".

Shieh JT.

Am J Med Genet A. 2015 Oct;167A(10):2495. doi: 10.1002/ajmg.a.37200. Epub 2015 Jul 20. No abstract available.


Clinical and ultrastructural spectrum of diffuse lung disease associated with surfactant protein C mutations.

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.

Eur J Hum Genet. 2015 Aug;23(8):1033-41. doi: 10.1038/ejhg.2015.45. Epub 2015 Mar 18. Erratum in: Eur J Hum Genet. 2016 May;24(5):780. Ullman, Nicola [corrected to Ullmann, Nicola].


Prioritizing genes for X-linked diseases using population exome data.

Ge X, Kwok PY, Shieh JT.

Hum Mol Genet. 2015 Feb 1;24(3):599-608. doi: 10.1093/hmg/ddu473. Epub 2014 Sep 12.


Congenital cardiac, aortic arch, and vascular bed anomalies in PHACE syndrome (from the International PHACE Syndrome Registry).

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.

Am J Cardiol. 2013 Dec 15;112(12):1948-52. doi: 10.1016/j.amjcard.2013.08.025. Epub 2013 Sep 28.


Twin Mitochondrial Sequence Analysis.

Bouhlal Y, Martinez S, Gong H, Dumas K, Shieh JT.

Mol Genet Genomic Med. 2013 Sep 1;1(3):174-186.


Implications of genetic testing in noncompaction/hypertrabeculation.

Shieh JT.

Am J Med Genet C Semin Med Genet. 2013 Aug;163C(3):206-11. doi: 10.1002/ajmg.c.31371. Epub 2013 Jul 10.


Disorders of left ventricular trabeculation/compaction or right ventricular wall formation.

Shieh JT, Jefferies JL, Chin AJ.

Am J Med Genet C Semin Med Genet. 2013 Aug;163C(3):141-3. doi: 10.1002/ajmg.c.31370. Epub 2013 Jul 10.


X Chromosome-Inactivation Patterns in 31 Individuals with PHACE Syndrome.

Sullivan CT, Christian SL, Shieh JT, Metry D, Blei F, Krol A, Drolet BA, Frieden IJ, Dobyns WB, Siegel DH.

Mol Syndromol. 2013 Mar;4(3):114-8. doi: 10.1159/000343489. Epub 2012 Nov 16.


Monoamniotic monochorionic twins discordant for noncompaction cardiomyopathy.

Ng D, Bouhlal Y, Ursell PC, Shieh JT.

Am J Med Genet A. 2013 Jun;161A(6):1339-44. doi: 10.1002/ajmg.a.35925. Epub 2013 May 1.


Hyalinosis, Inherited Systemic.

Shieh JTC, Hoyme HE, Arbour LT.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2019.
2008 Feb 27 [updated 2013 Apr 11].


Copy number variation analysis in 98 individuals with PHACE syndrome.

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.

J Invest Dermatol. 2013 Mar;133(3):677-684. doi: 10.1038/jid.2012.367. Epub 2012 Oct 25.


Candidate locus analysis for PHACE syndrome.

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.

Am J Med Genet A. 2012 Jun;158A(6):1363-7. doi: 10.1002/ajmg.a.35341. Epub 2012 Apr 27.


Consanguinity and the risk of congenital heart disease.

Shieh JT, Bittles AH, Hudgins L.

Am J Med Genet A. 2012 May;158A(5):1236-41. doi: 10.1002/ajmg.a.35272. Epub 2012 Apr 9. Review.


Elevated miR-499 levels blunt the cardiac stress response.

Shieh JT, Huang Y, Gilmore J, Srivastava D.

PLoS One. 2011 May 9;6(5):e19481. doi: 10.1371/journal.pone.0019481.


A genome-wide screen reveals a role for microRNA-1 in modulating cardiac cell polarity.

King IN, Qian L, Liang J, Huang Y, Shieh JT, Kwon C, Srivastava D.

Dev Cell. 2011 Apr 19;20(4):497-510. doi: 10.1016/j.devcel.2011.03.010.


Array comparative genomic hybridization analysis in patients with anophthalmia, microphthalmia, and coloboma.

Raca G, Jackson CA, Kucinskas L, Warman B, Shieh JT, Schneider A, Bardakjian TM, Schimmenti LA.

Genet Med. 2011 May;13(5):437-42. doi: 10.1097/GIM.0b013e318204cfd2.


Heart malformation: what are the chances it could happen again?

Shieh JT, Srivastava D.

Circulation. 2009 Jul 28;120(4):269-71. doi: 10.1161/CIRCULATIONAHA.109.878637. Epub 2009 Jul 13. No abstract available.


Novel deoxyguanosine kinase gene mutations and viral infection predispose apparently healthy children to fulminant liver failure.

Shieh JT, Berquist WE, Zhang Q, Chou PC, Wong LJ, Enns GM.

J Pediatr Gastroenterol Nutr. 2009 Jul;49(1):130-2. doi: 10.1097/MPG.0b013e31819de7a6. No abstract available.


Clinical features and management issues in Mowat-Wilson syndrome.

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.

Am J Med Genet A. 2006 Dec 15;140(24):2730-41.


Systemic hyalinosis: a distinctive early childhood-onset disorder characterized by mutations in the anthrax toxin receptor 2 gene (ANTRX2).

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.

Pediatrics. 2006 Nov;118(5):e1485-92. Epub 2006 Oct 16.


Nablus mask-like facial syndrome is caused by a microdeletion of 8q detected by array-based comparative genomic hybridization.

Shieh JT, Aradhya S, Novelli A, Manning MA, Cherry AM, Brumblay J, Salpietro CD, Bernardini L, Dallapiccola B, Hoyme HE.

Am J Med Genet A. 2006 Jun 15;140(12):1267-73.


Triplication of 8p22-8p23 in a patient with features similar to Kabuki syndrome.

Shieh JT, Hudgins L, Cherry AM, Shen Z, Hoyme HE.

Am J Med Genet A. 2006 Jan 15;140(2):170-3.


The coxsackievirus and adenovirus receptor is a transmembrane component of the tight junction.

Cohen CJ, Shieh JT, Pickles RJ, Okegawa T, Hsieh JT, Bergelson JM.

Proc Natl Acad Sci U S A. 2001 Dec 18;98(26):15191-6. Epub 2001 Dec 4.


CD4/CXCR4-independent infection of human astrocytes by a T-tropic strain of HIV-1.

Schweighardt B, Shieh JT, Atwood WJ.

J Neurovirol. 2001 Apr;7(2):155-62.


Characterization of cultured microglia that can be infected by HIV-1.

Albright AV, Shieh JT, O'Connor MJ, González-Scarano F.

J Neurovirol. 2000 May;6 Suppl 1:S53-60.


Determinants of syncytium formation in microglia by human immunodeficiency virus type 1: role of the V1/V2 domains.

Shieh JT, Martín J, Baltuch G, Malim MH, González-Scarano F.

J Virol. 2000 Jan;74(2):693-701.


Microglia express CCR5, CXCR4, and CCR3, but of these, CCR5 is the principal coreceptor for human immunodeficiency virus type 1 dementia isolates.

Albright AV, Shieh JT, Itoh T, Lee B, Pleasure D, O'Connor MJ, Doms RW, González-Scarano F.

J Virol. 1999 Jan;73(1):205-13.


Chemokine receptor utilization by human immunodeficiency virus type 1 isolates that replicate in microglia.

Shieh JT, Albright AV, Sharron M, Gartner S, Strizki J, Doms RW, González-Scarano F.

J Virol. 1998 May;72(5):4243-9.


A vaccine carrier derived from Neisseria meningitidis with mitogenic activity for lymphocytes.

Liu MA, Friedman A, Oliff AI, Tai J, Martinez D, Deck RR, Shieh JT, Jenkins TD, Donnelly JJ, Hawe LA.

Proc Natl Acad Sci U S A. 1992 May 15;89(10):4633-7.

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