Joseph Shieh, MD, PhD
Professor
Pediatrics
School of 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.

• Fetal Brain MRI Findings in Myotonic Dystrophy and Considerations for Prenatal Genetic Testing.
  Neurology. Genetics 2024 Shear MA, Penon-Portmann M, Shieh JT, Glenn OA, Thiet MP, Chetty S, Sparks TN, Gano D
• A Genotype/Phenotype Study of KDM5B-Associated Disorders Suggests a Pathogenic Effect of Dominantly Inherited Missense Variants.
  Genes 2024 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, …
• Cell-Type Specificity of Mosaic Chromosome 1q Gain Resolved by snRNA-seq in a Case of Epilepsy With Hyaline Protoplasmic Astrocytopathy.
  Neurology. Genetics 2024 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
• Cell type specificity of mosaic chromosome 1q gain resolved by snRNA-seq in a case of epilepsy with hyaline protoplasmic astrocytopathy.
  bioRxiv : the preprint server for biology 2024 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
• Author Correction: Diagnostic yield of pediatric and prenatal exome sequencing in a diverse population.
  NPJ genomic medicine 2023 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…
• Heterozygous nonsense variants in the ferritin heavy-chain gene FTH1 cause a neuroferritinopathy.
  HGG advances 2023 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,…
• Diagnostic yield of pediatric and prenatal exome sequencing in a diverse population.
  NPJ genomic medicine 2023 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…
• Lymphatic disorders caused by mosaic, activating KRAS variants respond to MEK inhibition.
  JCI insight 2023 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 …
• Heterozygous Nonsense Variants in the Ferritin Heavy Chain Gene FTH1 Cause a Novel Pediatric Neuroferritinopathy.
  medRxiv : the preprint server for health sciences 2023 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,…
• Genomic technologies to improve variation identification in undiagnosed diseases.
  Pediatrics and neonatology 2022 Shieh JTC
• Endovascular Biopsy for Detection of Somatic Mosaicism in Human Fusiform Cerebral Aneurysms.
  Stroke Vascular and Interventional Neurology 2022 Joseph H. Garcia, Ethan A. Winkler, Kerstin Müller, Evan Kao, Kazim Narsinh, Nerissa Ko, Patricia Cornett, Adib A. Abla, Joseph T. Shieh, Daniel L. Cooke
• CXCL14 Promotes a Robust Brain Tumor-Associated Immune Response in Glioma.
  Clinical cancer research : an official journal of the American Association for Cancer Research 2022 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
• Common genetic variation associated with Mendelian disease severity revealed through cryptic phenotype analysis.
  Nature communications 2022 Blair DR, Hoffmann TJ, Shieh JT
• De novo heterozygous variants in SLC30A7 are a candidate cause for Joubert syndrome.
  American journal of medical genetics. Part A 2022 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
• Tumor and Constitutional Sequencing for Neurofibromatosis Type 1.
  JCO precision oncology 2022 Tong S, Devine WP, Shieh JT
• Platelet VPS16B is dependent on VPS33B expression, as determined in two siblings with arthrogryposis, renal dysfunction, and cholestasis syndrome.
  Journal of thrombosis and haemostasis : JTH 2022 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-…
• Publisher Correction: Application of full-genome analysis to diagnose rare monogenic disorders.
  NPJ genomic medicine 2021 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,…
• Application of full-genome analysis to diagnose rare monogenic disorders.
  NPJ genomic medicine 2021 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,…
• Response to Hamosh et al.
  American journal of human genetics 2021 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, …
• Somatic mosaicism in the MAPK pathway in sporadic brain arteriovenous malformation and association with phenotype.
  Journal of neurosurgery 2021 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
• Pathogenic SPTBN1 variants cause an autosomal dominant neurodevelopmental syndrome.
  Nature genetics 2021 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 …
• Hereditary Hemorrhagic Telangiectasia: The Convergence of Genotype, Phenotype, and Imaging in Modern Diagnosis and Management of a Multisystem Disease.
  Radiology 2021 Hetts SW, Shieh JT, Ohliger MA, Conrad MB
• Correction to: De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathy.
  Genetics in medicine : official journal of the American College of Medical Genetics 2021 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, …
• Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann-Steiner syndrome.
  American journal of medical genetics. Part A 2021 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-…
• DLG4-related synaptopathy: a new rare brain disorder.
  Genetics in medicine : official journal of the American College of Medical Genetics 2021 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 …
• De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathy.
  Genetics in medicine : official journal of the American College of Medical Genetics 2020 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, …
• Genotype-phenotype correlation at codon 1740 of SETD2.
  American journal of medical genetics. Part A 2020 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, …
• Activating variants in PDGFRB result in a spectrum of disorders responsive to imatinib monotherapy.
  American journal of medical genetics. Part A 2020 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 …
• Automated syndrome diagnosis by three-dimensional facial imaging.
  Genetics in medicine : official journal of the American College of Medical Genetics 2020 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, …
• De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathy.
  medRxiv 2020 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 …
• Functional characterization of a novel PBX1 de novo missense variant identified in a patient with syndromic congenital heart disease.
  Human molecular genetics 2020 Alankarage D, Szot JO, Pachter N, Slavotinek A, Selleri L, Shieh JT, Winlaw D, Giannoulatou E, Chapman G, Dunwoodie SL
• SUN-690 HNF4A Mutation in Siblings with Diazoxide Responsive Congenital Hyperinsulinism.
  Journal of the Endocrine Society 2020 Ayca Erkin-Cakmak, Hannah Chesser, Joseph Shieh, Christine Ferrara, Stephen Eric Gitelman, Gina Capodanno
• MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis.
  Brain : a journal of neurology 2020 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…
• A novel truncating variant in ring finger protein 113A (RNF113A) confirms the association of this gene with X-linked trichothiodystrophy.
  American journal of medical genetics. Part A 2019 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
• X-linked duplication copy number variation in a familial overgrowth condition.
  American journal of medical genetics. Part C, Seminars in medical genetics 2019 Ha TK, Mardy AH, Beleford D, Spanier A, Wayman BV, Penon-Portmann M, Wiita AP, Shieh JT
• Mechanisms of Resistance to EGFR Inhibition Reveal Metabolic Vulnerabilities in Human GBM.
  Molecular cancer therapeutics 2019 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, …
• Case Report of Floating-Harbor Syndrome With Bilateral Cleft Lip.
  The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association 2019 Ko J, Pomerantz JH, Perry H, Shieh JT, Slavotinek AM, Oberoi S, Klein OD
• The genetic landscape of anaplastic pleomorphic xanthoastrocytoma.
  Brain pathology (Zurich, Switzerland) 2018 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 …
• Mutations in Hnrnpa1 cause congenital heart defects.
  JCI insight 2018 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…
• 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 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
• Familial melanoma-astrocytoma syndrome: synchronous diffuse astrocytoma and pleomorphic xanthoastrocytoma in a patient with germline CDKN2A/B deletion and a significant family history.
  Clinical neuropathology 2017 Chan AK, Han SJ, Choy W, Beleford D, Aghi MK, Berger MS, Shieh JT, Bollen AW, Perry A, Phillips JJ, Butowski N, Solomon DA
• Pierpont syndrome associated with the p.Tyr446Cys missense mutation in TBL1XR1.
  European journal of medical genetics 2017 Slavotinek A, Pua H, Hodoglugil U, Abadie J, Shieh J, Van Ziffle J, Kvale M, Lee H, Kwok PY, Risch N, Sabbadini M
• De Novo Truncating Mutations in the Last and Penultimate Exons of PPM1D Cause an Intellectual Disability Syndrome.
  American journal of human genetics 2017 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-…
• GBM heterogeneity as a function of variable epidermal growth factor receptor variant III activity.
  Oncotarget 2016 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
• Uveal Ganglioneuroma due to Germline PTEN Mutation (Cowden Syndrome) Presenting as Unilateral Infantile Glaucoma.
  Ocular oncology and pathology 2016 DeParis SW, Bloomer M, Han Y, Vagefi MR, Shieh JTC, Solomon DA, Grenert J, de Alba Campomanes AG
• Molecular Regulation of Cardiogenesis.
  Epstein\u0027s Inborn Errors of Development 2016 Deepak Srivastava, Joseph T. C. Shieh
• Clinical and ultrastructural spectrum of diffuse lung disease associated with surfactant protein C mutations.
  European journal of human genetics : EJHG 2016 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
• Pathogenetics of alveolar capillary dysplasia with misalignment of pulmonary veins.
  Human genetics 2016 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 …
• Prenatal Findings Leading to Early Diagnosis of X-Linked Inhibitor of Apoptosis Protein (XIAP) Deficiency.
  Journal of Allergy and Clinical Immunology 2016 Angela Chang, Joseph Shieh, Morna J. Dorsey, Jennifer M. Puck
• CBIO-31MECHANISMS OF RESISTANCE TO EGFR INHIBITION REVEAL METABOLIC VULNERABILITIES IN HUMAN GBM.
  Neuro-Oncology 2015 Andrew McKinney, Olle Lindberg, Jane Engler, Henry Gong, Joseph Shieh, Joanna Phillips
• Novel SMC1A frameshift mutations in children with developmental delay and epilepsy.
  European journal of medical genetics 2015 Goldstein JH, Tim-Aroon T, Shieh J, Merrill M, Deeb KK, Zhang S, Bass NE, Bedoyan JK
• Response to Finsterer and Stöllberger "Explanations for discordance of noncompaction in monozygotic twins".
  American journal of medical genetics. Part A 2015 Shieh JT
• Clinical and ultrastructural spectrum of diffuse lung disease associated with surfactant protein C mutations.
  European journal of human genetics : EJHG 2015 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
• Prioritizing genes for X-linked diseases using population exome data.
  Human molecular genetics 2014 Ge X, Kwok PY, Shieh JT
• Congenital Heart Defects.
  Signs and Symptoms of Genetic Conditions 2014 Tom Cushing, Joseph T. C. Shieh
• Genetics of Renal Malformations.
  Signs and Symptoms of Genetic Conditions 2014 Joseph T. C. Shieh
• Congenital cardiac, aortic arch, and vascular bed anomalies in PHACE syndrome (from the International PHACE Syndrome Registry).
  The American journal of cardiology 2013 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, …
• Twin Mitochondrial Sequence Analysis.
  Molecular genetics & genomic medicine 2013 Bouhlal Y, Martinez S, Gong H, Dumas K, Shieh JT
• Disorders of left ventricular trabeculation/compaction or right ventricular wall formation.
  American journal of medical genetics. Part C, Seminars in medical genetics 2013 Shieh JT, Jefferies JL, Chin AJ
• Implications of genetic testing in noncompaction/hypertrabeculation.
  American journal of medical genetics. Part C, Seminars in medical genetics 2013 Shieh JT
• X Chromosome-Inactivation Patterns in 31 Individuals with PHACE Syndrome.
  Molecular syndromology 2012 Sullivan CT, Christian SL, Shieh JT, Metry D, Blei F, Krol A, Drolet BA, Frieden IJ, Dobyns WB, Siegel DH
• Copy number variation analysis in 98 individuals with PHACE syndrome.
  The Journal of investigative dermatology 2012 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, …
• Candidate locus analysis for PHACE syndrome.
  American journal of medical genetics. Part A 2012 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
• Consanguinity and the risk of congenital heart disease.
  American journal of medical genetics. Part A 2012 Shieh JT, Bittles AH, Hudgins L
• Elevated miR-499 levels blunt the cardiac stress response.
  PloS one 2011 Shieh JT, Huang Y, Gilmore J, Srivastava D
• Array comparative genomic hybridization analysis in patients with anophthalmia, microphthalmia, and coloboma.
  Genetics in medicine : official journal of the American College of Medical Genetics 2011 Raca G, Jackson CA, Kucinskas L, Warman B, Shieh JT, Schneider A, Bardakjian TM, Schimmenti LA
• A genome-wide screen reveals a role for microRNA-1 in modulating cardiac cell polarity.
  Developmental cell 2011 King IN, Qian L, Liang J, Huang Y, Shieh JT, Kwon C, Srivastava D
• Heart malformation: what are the chances it could happen again?
  Circulation 2009 Shieh JT, Srivastava D
• Novel deoxyguanosine kinase gene mutations and viral infection predispose apparently healthy children to fulminant liver failure.
  Journal of pediatric gastroenterology and nutrition 2009 Shieh JT, Berquist WE, Zhang Q, Chou PC, Wong LJ, Enns GM
• Clinical and molecular features of mitochondrial DNA depletion due to mutations in deoxyguanosine kinase.
  Human mutation 2008 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, …
• Neuroimaging findings in macrocephaly-capillary malformation: a longitudinal study of 17 patients.
  American journal of medical genetics. Part A 2007 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,…
• Clinical features and management issues in Mowat-Wilson syndrome.
  American journal of medical genetics. Part A 2006 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
• Systemic hyalinosis: a distinctive early childhood-onset disorder characterized by mutations in the anthrax toxin receptor 2 gene (ANTRX2).
  Pediatrics 2006 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
• Nablus mask-like facial syndrome is caused by a microdeletion of 8q detected by array-based comparative genomic hybridization.
  American journal of medical genetics. Part A 2006 Shieh JT, Aradhya S, Novelli A, Manning MA, Cherry AM, Brumblay J, Salpietro CD, Bernardini L, Dallapiccola B, Hoyme HE
• Triplication of 8p22-8p23 in a patient with features similar to Kabuki syndrome.
  American journal of medical genetics. Part A 2006 Shieh JT, Hudgins L, Cherry AM, Shen Z, Hoyme HE
• 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 J. T.C. Shieh, S. Aradhya, M. A. Manning, A. M. Cherry, B. Dallapiccola, H. E. Hoyme
• The coxsackievirus and adenovirus receptor is a transmembrane component of the tight junction.
  Proceedings of the National Academy of Sciences of the United States of America 2001 Cohen CJ, Shieh JT, Pickles RJ, Okegawa T, Hsieh JT, Bergelson JM
• CD4/CXCR4-independent infection of human astrocytes by a T-tropic strain of HIV-1.
  Journal of neurovirology 2001 Schweighardt B, Shieh JT, Atwood WJ
• Characterization of cultured microglia that can be infected by HIV-1.
  Journal of neurovirology 2000 Albright AV, Shieh JT, O'Connor MJ, González-Scarano F
• Determinants of syncytium formation in microglia by human immunodeficiency virus type 1: role of the V1/V2 domains.
  Journal of virology 2000 Shieh JT, Martín J, Baltuch G, Malim MH, González-Scarano F
• Microglia express CCR5, CXCR4, and CCR3, but of these, CCR5 is the principal coreceptor for human immunodeficiency virus type 1 dementia isolates.
  Journal of virology 1999 Albright AV, Shieh JT, Itoh T, Lee B, Pleasure D, O'Connor MJ, Doms RW, González-Scarano F
• Chemokine receptor utilization by human immunodeficiency virus type 1 isolates that replicate in microglia.
  Journal of virology 1998 Shieh JT, Albright AV, Sharron M, Gartner S, Strizki J, Doms RW, González-Scarano F
• Use of primary CNS cultures to investigate HIV neurotropism.
  Journal of neurovirology 1997 González-Scarano F, Strizki JM, Albright A, Shieh J
• A vaccine carrier derived from Neisseria meningitidis with mitogenic activity for lymphocytes.
  Proceedings of the National Academy of Sciences of the United States of America 1992 Liu MA, Friedman A, Oliff AI, Tai J, Martinez D, Deck RR, Shieh JT, Jenkins TD, Donnelly JJ, Hawe LA