Joseph Shieh, MD, PhD

Title(s)Professor, Pediatrics
SchoolSchool of Medicine
Address513 Parnassus Avenue, HSW, #901H
San Francisco CA 94143
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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 Mentoring

    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 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.
    Newest   |   Oldest   |   Most Cited   |   Most Discussed   |   Timeline   |   Field Summary   |   Plain Text
    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. Fetal Brain MRI Findings in Myotonic Dystrophy and Considerations for Prenatal Genetic Testing. Neurol Genet. 2024 Dec; 10(6):e200171. Shear MA, Penon-Portmann M, Shieh JT, Glenn OA, Thiet MP, Chetty S, Sparks TN, Gano D. PMID: 39444647; PMCID: PMC11498903.
      View in: PubMed   Mentions:
    2. A Genotype/Phenotype Study of KDM5B-Associated Disorders Suggests a Pathogenic Effect of Dominantly Inherited Missense Variants. Genes (Basel). 2024 Aug 06; 15(8). Borroto MC, Michaud C, Hudon C, Agrawal PB, Agre K, Applegate CD, Beggs AH, Bjornsson HT, Callewaert B, Chen MJ, Curry C, Devinsky O, Dudding-Byth T, Fagan K, Finnila CR, Gavrilova R, Genetti CA, Hiatt SM, Hildebrandt F, Wojcik MH, Kleefstra T, Kolvenbach CM, Korf BR, Kruszka P, Li H, Litwin J, Marcadier J, Platzer K, Blackburn PR, Reijnders MRF, Reutter H, Schanze I, Shieh JT, Stevens CA, Valivullah Z, van den Boogaard MJ, Klee EW, Campeau PM. PMID: 39202393; PMCID: PMC11353349.
      View in: PubMed   Mentions: 1     Fields:    Translation:Humans
    3. Cell-Type Specificity of Mosaic Chromosome 1q Gain Resolved by snRNA-seq in a Case of Epilepsy With Hyaline Protoplasmic Astrocytopathy. Neurol Genet. 2024 Apr; 10(2):e200142. Leng K, Cadwell CR, Devine WP, Tihan T, Qi Z, Singhal NS, Glenn OA, Kamiya S, Wiita AP, Berger AC, Shieh JT, Titus EW, Paredes MF, Upadhyay V. PMID: 38586598; PMCID: PMC10997208.
      View in: PubMed   Mentions:
    4. Cell type specificity of mosaic chromosome 1q gain resolved by snRNA-seq in a case of epilepsy with hyaline protoplasmic astrocytopathy. bioRxiv. 2024 Jan 25. Leng K, Cadwell CR, Patrick Devine W, Tihan T, Qi Z, Singhal N, Glenn O, Kamiya S, Wiita A, Berger A, Shieh JT, Titus EW, Paredes MF, Upadhyay V. PMID: 38328093; PMCID: PMC10849466.
      View in: PubMed   Mentions:
    5. Author Correction: Diagnostic yield of pediatric and prenatal exome sequencing in a diverse population. NPJ Genom Med. 2023 Oct 23; 8(1):34. Slavotinek A, Rego S, Sahin-Hodoglugil N, Kvale M, Lianoglou B, Yip T, Hoban H, Outram S, Anguiano B, Chen F, Michelson J, Cilio RM, Curry C, Gallagher RC, Gardner M, Kuperman R, Mendelsohn B, Sherr E, Shieh J, Strober J, Tam A, Tenney J, Weiss W, Whittle A, Chin G, Faubel A, Prasad H, Mavura Y, Van Ziffle J, Devine WP, Hodoglugil U, Martin PM, Sparks TN, Koenig B, Ackerman S, Risch N, Kwok PY, Norton ME. PMID: 37872195; PMCID: PMC10593851.
      View in: PubMed   Mentions:
    6. Heterozygous nonsense variants in the ferritin heavy-chain gene FTH1 cause a neuroferritinopathy. HGG Adv. 2023 Oct 12; 4(4):100236. Shieh JT, Tintos-Hernandez JA, Murali CN, Penon-Portmann M, Flores-Mendez M, Santana A, Bulos JA, Du K, Dupuis L, Damseh N, Mendoza-Londoño R, Berera C, Lee JC, Phillips JJ, Alves CAPF, Dmochowski IJ, Ortiz-González XR. PMID: 37660254; PMCID: PMC10510067.
      View in: PubMed   Mentions: 1     Fields:    Translation:Humans
    7. Diagnostic yield of pediatric and prenatal exome sequencing in a diverse population. NPJ Genom Med. 2023 May 26; 8(1):10. Slavotinek A, Rego S, Sahin-Hodoglugil N, Kvale M, Lianoglou B, Yip T, Hoban H, Outram S, Anguiano B, Chen F, Michelson J, Cilio RM, Curry C, Gallagher RC, Gardner M, Kuperman R, Mendelsohn B, Sherr E, Shieh J, Strober J, Tam A, Tenney J, Weiss W, Whittle A, Chin G, Faubel A, Prasad H, Mavura Y, Van Ziffle J, Devine WP, Hodoglugil U, Martin PM, Sparks TN, Koenig B, Ackerman S, Risch N, Kwok PY, Norton ME. PMID: 37236975; PMCID: PMC10220040.
      View in: PubMed   Mentions: 10  
    8. Lymphatic disorders caused by mosaic, activating KRAS variants respond to MEK inhibition. JCI Insight. 2023 05 08; 8(9). Sheppard SE, March ME, Seiler C, Matsuoka LS, Kim SE, Kao C, Rubin AI, Battig MR, Khalek N, Schindewolf E, O'Connor N, Pinto E, Priestley JR, Sanders VR, Niazi R, Ganguly A, Hou C, Slater D, Frieden IJ, Huynh T, Shieh JT, Krantz ID, Guerrero JC, Surrey LF, Biko DM, Laje P, Castelo-Soccio L, Nakano TA, Snyder K, Smith CL, Li D, Dori Y, Hakonarson H. PMID: 37154160; PMCID: PMC10243805.
      View in: PubMed   Mentions: 7     Fields:    Translation:HumansAnimalsCells
    9. Heterozygous Nonsense Variants in the Ferritin Heavy Chain Gene FTH1 Cause a Novel Pediatric Neuroferritinopathy. medRxiv. 2023 Jan 31. Shieh JT, Tintos-Hernández JA, Murali CN, Penon-Portmann M, Flores-Mendez M, Santana A, Bulos JA, Du K, Dupuis L, Damseh N, Mendoza-Londoño R, Berera C, Lee JC, Phillips JJ, Alves CAPF, Dmochowski IJ, Ortiz-González XR. PMID: 36778397; PMCID: PMC9915813.
      View in: PubMed   Mentions:
    10. Genomic technologies to improve variation identification in undiagnosed diseases. Pediatr Neonatol. 2023 02; 64 Suppl 1:S18-S21. Shieh JTC. PMID: 36428199.
      View in: PubMed   Mentions: 2     Fields:    Translation:Humans
    11. Endovascular Biopsy for Detection of Somatic Mosaicism in Human Fusiform Cerebral Aneurysms. Stroke Vascular and Interventional Neurology. 2022 Jul 18; 2(5). Garcia GJ, Winkler WE, Müller MK, Kao KE, Narsinh NK, Ko KN, Cornett CP, Abla AA, Shieh SJ, Cooke CD. .
      View in: Publisher Site   Mentions:
    12. CXCL14 Promotes a Robust Brain Tumor-Associated Immune Response in Glioma. Clin Cancer Res. 2022 07 01; 28(13):2898-2910. Kumar A, Mohamed E, Tong S, Chen K, Mukherjee J, Lim Y, Wong CM, Boosalis Z, Shai A, Pieper RO, Gupta N, Perry A, Bollen AW, Molinaro AM, Solomon DA, Shieh JTC, Phillips JJ. PMID: 35511927; PMCID: PMC9250623.
      View in: PubMed   Mentions: 15     Fields:    Translation:HumansAnimals
    13. Common genetic variation associated with Mendelian disease severity revealed through cryptic phenotype analysis. Nat Commun. 2022 06 27; 13(1):3675. Blair DR, Hoffmann TJ, Shieh JT. PMID: 35760791; PMCID: PMC9237040.
      View in: PubMed   Mentions: 4     Fields:    
    14. De novo heterozygous variants in SLC30A7 are a candidate cause for Joubert syndrome. Am J Med Genet A. 2022 08; 188(8):2360-2366. Penon-Portmann M, Eldomery MK, Potocki L, Marafi D, Posey JE, Coban-Akdemir Z, Harel T, Grochowski CM, Loucks H, Devine WP, Van Ziffle J, Doherty D, Lupski JR, Shieh JT. PMID: 35751429; PMCID: PMC9756141.
      View in: PubMed   Mentions: 2     Fields:    Translation:Humans
    15. Tumor and Constitutional Sequencing for Neurofibromatosis Type 1. JCO Precis Oncol. 2022 05; 6:e2100540. Tong S, Devine WP, Shieh JT. PMID: 35584348; PMCID: PMC9200388.
      View in: PubMed   Mentions: 3     Fields:    Translation:Humans
    16. Platelet VPS16B is dependent on VPS33B expression, as determined in two siblings with arthrogryposis, renal dysfunction, and cholestasis syndrome. J Thromb Haemost. 2022 07; 20(7):1712-1719. Penon-Portmann M, Westbury SK, Li L, Pluthero FG, Liu RJY, Yao HHY, Geng RSQ, Warner N, Muise AM, Lotz-Esquivel S, Howell-Ramirez M, Saborío-Chacon P, Fernández-Rojas S, Saborio-Rocafort M, Jiménez-Hernández M, Wang-Zuniga C, Cartín-Sánchez W, Shieh JT, Badilla-Porras R, Kahr WHA. PMID: 35325493.
      View in: PubMed   Mentions:    Fields:    Translation:HumansCells
    17. Publisher Correction: Application of full-genome analysis to diagnose rare monogenic disorders. NPJ Genom Med. 2021 Oct 12; 6(1):88. Shieh JT, Penon-Portmann M, Wong KHY, Levy-Sakin M, Verghese M, Slavotinek A, Gallagher RC, Mendelsohn BA, Tenney J, Beleford D, Perry H, Chow SK, Sharo AG, Brenner SE, Qi Z, Yu J, Klein OD, Martin D, Kwok PY, Boffelli D. PMID: 34642307; PMCID: PMC8511154.
      View in: PubMed   Mentions:
    18. Application of full-genome analysis to diagnose rare monogenic disorders. NPJ Genom Med. 2021 Sep 23; 6(1):77. Shieh JT, Penon-Portmann M, Wong KHY, Levy-Sakin M, Verghese M, Slavotinek A, Gallagher RC, Mendelsohn BA, Tenney J, Beleford D, Perry H, Chow SK, Sharo AG, Brenner SE, Qi Z, Yu J, Klein OD, Martin D, Kwok PY, Boffelli D. PMID: 34556655; PMCID: PMC8460793.
      View in: PubMed   Mentions: 18  
    19. Response to Hamosh et al. Am J Hum Genet. 2021 09 02; 108(9):1809-1810. 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: 34478656; PMCID: PMC8456172.
      View in: PubMed   Mentions:    Fields:    
    20. Somatic mosaicism in the MAPK pathway in sporadic brain arteriovenous malformation and association with phenotype. J Neurosurg. 2022 01 01; 136(1):148-155. 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; PMCID: PMC8720328.
      View in: PubMed   Mentions: 8     Fields:    Translation:HumansCells
    21. Pathogenic SPTBN1 variants cause an autosomal dominant neurodevelopmental syndrome. Nat Genet. 2021 07; 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; PMCID: PMC8273149.
      View in: PubMed   Mentions: 33     Fields:    Translation:HumansAnimals
    22. Hereditary Hemorrhagic Telangiectasia: The Convergence of Genotype, Phenotype, and Imaging in Modern Diagnosis and Management of a Multisystem Disease. Radiology. 2021 07; 300(1):17-30. Hetts SW, Shieh JT, Ohliger MA, Conrad MB. PMID: 33973836.
      View in: PubMed   Mentions: 14     Fields:    Translation:Humans
    23. Correction to: De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathy. Genet Med. 2021 Apr; 23(4):796. 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, Wigby K, Wortmann SB, Zarate YA, Møller RS, Lemke JR, Platzer K. PMID: 33686260.
      View in: PubMed   Mentions: 1     Fields:    
    24. Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann-Steiner syndrome. Am J Med Genet A. 2021 06; 185(6):1649-1665. 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; PMCID: PMC8631250.
      View in: PubMed   Mentions: 22     Fields:    Translation:Humans
    25. 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: 4     Fields:    Translation:Humans
    26. 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: 19     Fields:    Translation:Humans
    27. 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; PMCID: PMC7820621.
      View in: PubMed   Mentions: 35     Fields:    Translation:Humans
    28. 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, Wigby K, Wortmann SB, Zarate YA, Møller RS, Lemke JR, Platzer K. PMID: 33299146.
      View in: PubMed   Mentions: 15     Fields:    Translation:Humans
    29. 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; PMCID: PMC8800147.
      View in: PubMed   Mentions: 79     Fields:    Translation:HumansPHPublic Health
    30. 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: 11     Fields:    Translation:Humans
    31. 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: 10     Fields:    Translation:Humans
    32. 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; PMCID: PMC7521994.
      View in: PubMed   Mentions: 27     Fields:    Translation:Humans
    33. De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathy. medRxiv. 2020 May 15; 2020.05.11.20095141. Klöckner KC, Sticht SH, Zacher ZP, Popp PB, Bakker BD, Barwick BK, Bonfert BM, Brilstra BE, Consortium CC, Chung CW, Clarke CA, Devine DP, Friedman FJ, Gates GA, Horvath HG, Keller-Ramey KJ, Keren KB, Kurian KM, Lee LV, Leppig LK, Lundgren LJ, McDonald MM, McTague MA, Mefford MH, Mignot MC, Mikati MM, Nava NC, Raymond RF, Sampson SJ, Sanchis-Juan SA, Shashi SV, Shieh SJ, Shinawi SM, Slavotinek SA, Stödberg ST, Stong SN, Sullivan SJ, Taylor TA, Toler TT, van den Bogaard vM, van der Crabben vS, van Gassen vK, van Jaarsveld vR, Van Ziffle VJ, Wadley WA, Wagner WM, Wortmann WS, Møller MR, Lemke LJ, Platzer PK. .
      View in: Publisher Site   Mentions:
    34. SUN-690 HNF4A Mutation in Siblings with Diazoxide Responsive Congenital Hyperinsulinism. Journal of the Endocrine Society. 2020 May 8; 4(Supplement_1):sun-690-. Erkin-Cakmak EA, Chesser CH, Shieh SJ, Ferrara FC, Gitelman GS, Capodanno CG. .
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    35. 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; PMCID: PMC7206850.
      View in: PubMed   Mentions: 14     Fields:    Translation:HumansAnimals
    36. 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; PMCID: PMC7962909.
      View in: PubMed   Mentions: 20     Fields:    Translation:HumansCells
    37. 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; PMCID: PMC10335815.
      View in: PubMed   Mentions: 7     Fields:    Translation:Humans
    38. Optimizing genetics online resources for diverse readers. Genet Med. 2020 03; 22(3):640-645. Chang J, Penon-Portmann M, Shieh JT. PMID: 31767985; PMCID: PMC7056640.
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    39. 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: 2     Fields:    Translation:Humans
    40. 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; PMCID: PMC6760934.
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    41. 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.
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    42. 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; PMCID: PMC10218759.
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    43. Mechanisms of Resistance to EGFR Inhibition Reveal Metabolic Vulnerabilities in Human GBM. Mol Cancer Ther. 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; PMCID: PMC6726545.
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    44. 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.
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    45. Schimke immunoosseous dysplasia and management considerations for vascular risks. Am J Med Genet A. 2019 07; 179(7):1246-1252. Beleford DT, Diab M, Qubty WF, Malloy MJ, Long RK, Shieh JT. PMID: 31039288.
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    46. Extracutaneous manifestations in phacomatosis cesioflammea and cesiomarmorata: Case series and literature review. Am J Med Genet A. 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; PMCID: PMC6488410.
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    47. Emerging RAS superfamily conditions involving GTPase function. PLoS Genet. 2019 02; 15(2):e1007870. Shieh JTC. PMID: 30763311; PMCID: PMC6375560.
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    48. Genomic Sequencing Expansion and Incomplete Penetrance. Pediatrics. 2019 01; 143(Suppl 1):S22-S26. Shieh JTC. PMID: 30600267; PMCID: PMC7185999.
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    49. 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; PMCID: PMC7837273.
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    50. 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; PMCID: PMC6160706.
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    51. 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; PMCID: PMC5821217.
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    52. 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; PMCID: PMC6455034.
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    53. 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. Choy CW, Chan CA, Han HS, Beleford BD, Aghi AM, Berger BM, Shieh SJ, Bollen BA, Perry PA, Phillips PJ, Butowski BN, Solomon SD. .
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    54. 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; PMCID: PMC6037534.
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    55. 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; PMCID: PMC5628627.
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    56. 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.
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    57. 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; PMCID: PMC5384016.
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    58. 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; PMCID: PMC5260149.
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    59. 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; PMCID: PMC5346701.
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    60. 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; PMCID: PMC5566766.
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    61. 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; PMCID: PMC5576364.
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    62. 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; PMCID: PMC5074852.
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    63. Molecular Regulation of Cardiogenesis. Epstein\u0027s Inborn Errors of Development. 2016 Jun 1; 107-112. Srivastava SD, Shieh SJ. .
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    64. 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; PMCID: PMC4930102.
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    65. 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; PMCID: PMC5518754.
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    66. 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. Chang CA, Shieh SJ, Dorsey DM, Puck PJ. .
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    67. CBIO-31MECHANISMS OF RESISTANCE TO EGFR INHIBITION REVEAL METABOLIC VULNERABILITIES IN HUMAN GBM. Neuro-Oncology. 2015 Nov 1; 17(suppl_5):v61-v61. McKinney MA, Lindberg LO, Engler EJ, Gong GH, Shieh SJ, Phillips PJ. .
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    68. 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.
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    69. Response to Finsterer and Stöllberger "Explanations for discordance of noncompaction in monozygotic twins". Am J Med Genet A. 2015 Oct; 167A(10):2495. Shieh JT. PMID: 26198164.
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    70. 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; PMCID: PMC4795107.
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    71. 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; PMCID: PMC4291241.
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    72. Genetics of Renal Malformations. Signs and Symptoms of Genetic Conditions. 2014 May 1; 380-386. Shieh SJ. .
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    73. Congenital Heart Defects. Signs and Symptoms of Genetic Conditions. 2014 May 1; 368-379. Cushing CT, Shieh SJ. .
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    74. 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; PMCID: PMC4057998.
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    75. 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; PMCID: PMC3768015.
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    76. 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; PMCID: PMC3727172.
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    77. 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; PMCID: PMC3746595.
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    78. Monoamniotic monochorionic twins discordant for noncompaction cardiomyopathy. Am J Med Genet A. 2013 Jun; 161A(6):1339-44. Ng D, Bouhlal Y, Ursell PC, Shieh JT. PMID: 23636980; PMCID: PMC3664136.
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    79. 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; PMCID: PMC3638925.
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    80. 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; PMCID: PMC3971866.
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    81. Candidate locus analysis for PHACE syndrome. Am J Med Genet A. 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; PMCID: PMC3356486.
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    82. Consanguinity and the risk of congenital heart disease. Am J Med Genet A. 2012 May; 158A(5):1236-41. Shieh JT, Bittles AH, Hudgins L. PMID: 22488956; PMCID: PMC3331952.
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    83. 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; PMCID: PMC3090396.
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    84. 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; PMCID: PMC4237064.
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    85. 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; PMCID: PMC3086096.
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    86. Heart malformation: what are the chances it could happen again? Circulation. 2009 Jul 28; 120(4):269-71. Shieh JT, Srivastava D. PMID: 19597046; PMCID: PMC2836435.
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    87. 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: 4     Fields:    Translation:Humans
    88. 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: 54     Fields:    Translation:Humans
    89. Neuroimaging findings in macrocephaly-capillary malformation: a longitudinal study of 17 patients. Am J Med Genet A. 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; PMCID: PMC6816457.
      View in: PubMed   Mentions: 36     Fields:    Translation:Humans
    90. Clinical features and management issues in Mowat-Wilson syndrome. Am J Med Genet A. 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: 33     Fields:    Translation:Humans
    91. 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: 10     Fields:    Translation:Humans
    92. 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. 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: 7     Fields:    Translation:HumansCells
    93. 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. Shieh JT, Hudgins L, Cherry AM, Shen Z, Hoyme HE. PMID: 16353235.
      View in: PubMed   Mentions: 3     Fields:    Translation:HumansCells
    94. 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. Shieh SJ, Aradhya AS, Manning MM, Cherry CA, Dallapiccola DB, Hoyme HH. .
      View in: Publisher Site   Mentions:
    95. 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; PMCID: PMC65005.
      View in: PubMed   Mentions: 247     Fields:    Translation:HumansAnimalsCells
    96. 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: 19     Fields:    Translation:HumansCells
    97. 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: 29     Fields:    Translation:HumansCells
    98. 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; PMCID: PMC111589.
      View in: PubMed   Mentions: 28     Fields:    Translation:HumansCells
    99. 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; PMCID: PMC103824.
      View in: PubMed   Mentions: 113     Fields:    Translation:HumansCells
    100. 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; PMCID: PMC109654.
      View in: PubMed   Mentions: 50     Fields:    Translation:HumansCells
    101. 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
    102. 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; PMCID: PMC49137.
      View in: PubMed   Mentions: 12     Fields:    Translation:HumansAnimalsCellsPHPublic Health
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