Joseph Shieh, MD, PhD

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.
M.D., 2002 - School of Medicine, University of Pennsylvania
Ph.D., 1999 - Immunology, University of Pennsylvania
Fellowship, - Genetics, University of California, San Francisco
Honors and Awards
  • Mentored Postdocal fellow Blair, ASHG Top Abstract, 2020
  • Caring Tree Award, Family Advisory Council, 2017
  1. CXCL14 promotes a robust brain tumor-associated immune response in glioma.
  2. Common genetic variation associated with Mendelian disease severity revealed through cryptic phenotype analysis.
  3. De novo heterozygous variants in SLC30A7 are a candidate cause for Joubert syndrome.
  4. Tumor and Constitutional Sequencing for Neurofibromatosis Type 1.
  5. Platelet VPS16B is dependent on VPS33B expression, as determined in two siblings with arthrogryposis, renal dysfunction and cholestasis (ARC) syndrome.
  6. Publisher Correction: Application of full-genome analysis to diagnose rare monogenic disorders.
  7. Application of full-genome analysis to diagnose rare monogenic disorders.
  8. Response to Hamosh et al.
  9. Somatic mosaicism in the MAPK pathway in sporadic brain arteriovenous malformation and association with phenotype.
  10. Pathogenic SPTBN1 variants cause an autosomal dominant neurodevelopmental syndrome.
  11. Hereditary Hemorrhagic Telangiectasia: The Convergence of Genotype, Phenotype, and Imaging in Modern Diagnosis and Management of a Multisystem Disease.
  12. Correction to: De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathy.
  13. Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann-Steiner syndrome.
  14. Segmental overgrowth and aneurysms due to mosaic PDGFRB p.(Tyr562Cys).
  15. DLG4-related synaptopathy: a new rare brain disorder.
  16. A dyadic approach to the delineation of diagnostic entities in clinical genomics.
  17. De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathy.
  18. The role of exome sequencing in newborn screening for inborn errors of metabolism.
  19. Genotype-phenotype correlation at codon 1740 of SETD2.
  20. Activating variants in PDGFRB result in a spectrum of disorders responsive to imatinib monotherapy.
  21. Automated syndrome diagnosis by three-dimensional facial imaging.
  22. De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathy.
  23. Functional characterization of a novel PBX1 de novo missense variant identified in a patient with syndromic congenital heart disease.
  24. SUN-690 HNF4A Mutation in Siblings with Diazoxide Responsive Congenital Hyperinsulinism.
  25. MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis.
  26. A novel truncating variant in ring finger protein 113A (RNF113A) confirms the association of this gene with X-linked trichothiodystrophy.
  27. Optimizing genetics online resources for diverse readers.
  28. X-linked duplication copy number variation in a familial overgrowth condition.
  29. Disruptive variants of CSDE1 associate with autism and interfere with neuronal development and synaptic transmission.
  30. Phenotype characterisation of TBX4 mutation and deletion carriers with neonatal and paediatric pulmonary hypertension.
  31. Genetics workforce: distribution of genetics services and challenges to health care in California.
  32. Mechanisms of Resistance to EGFR Inhibition Reveal Metabolic Vulnerabilities in Human GBM.
  33. Case Report of Floating-Harbor Syndrome With Bilateral Cleft Lip.
  34. Schimke immunoosseous dysplasia and management considerations for vascular risks.
  35. Extracutaneous manifestations in phacomatosis cesioflammea and cesiomarmorata: Case series and literature review.
  36. Emerging RAS superfamily conditions involving GTPase function.
  37. Genomic Sequencing Expansion and Incomplete Penetrance.
  38. The genetic landscape of anaplastic pleomorphic xanthoastrocytoma.
  39. Using exome sequencing to decipher family history in a healthy individual: Comparison of pathogenic and population MTM1 variants.
  40. Mutations in Hnrnpa1 cause congenital heart defects.
  41. De novo, deleterious sequence variants that alter the transcriptional activity of the homeoprotein PBX1 are associated with intellectual disability and pleiotropic developmental defects.
  43. Potential Role of Genomic Sequencing in the Early Diagnosis of Treatable Genetic Conditions.
  44. Familial melanoma-astrocytoma syndrome: synchronous diffuse astrocytoma and pleomorphic xanthoastrocytoma in a patient with germline CDKN2A/B deletion and a significant family history.
  45. Pierpont syndrome associated with the p.Tyr446Cys missense mutation in TBL1XR1.
  46. De Novo Truncating Mutations in the Last and Penultimate Exons of PPM1D Cause an Intellectual Disability Syndrome.
  47. Newborn Sequencing in Genomic Medicine and Public Health.
  48. GBM heterogeneity as a function of variable epidermal growth factor receptor variant III activity.
  49. Uveal Ganglioneuroma due to Germline PTEN Mutation (Cowden Syndrome) Presenting as Unilateral Infantile Glaucoma.
  50. Missense-depleted regions in population exomes implicate ras superfamily nucleotide-binding protein alteration in patients with brain malformation.
  51. Activating NRF1-BRAF and ATG7-RAF1 fusions in anaplastic pleomorphic xanthoastrocytoma without BRAF p.V600E mutation.
  52. Molecular Regulation of Cardiogenesis.
  53. Clinical and ultrastructural spectrum of diffuse lung disease associated with surfactant protein C mutations.
  54. Pathogenetics of alveolar capillary dysplasia with misalignment of pulmonary veins.
  55. Prenatal Findings Leading to Early Diagnosis of X-Linked Inhibitor of Apoptosis Protein (XIAP) Deficiency.
  57. Novel SMC1A frameshift mutations in children with developmental delay and epilepsy.
  58. Response to Finsterer and Stöllberger "Explanations for discordance of noncompaction in monozygotic twins".
  59. Clinical and ultrastructural spectrum of diffuse lung disease associated with surfactant protein C mutations.
  60. Prioritizing genes for X-linked diseases using population exome data.
  61. Congenital Heart Defects.
  62. Genetics of Renal Malformations.
  63. Congenital cardiac, aortic arch, and vascular bed anomalies in PHACE syndrome (from the International PHACE Syndrome Registry).
  64. Twin Mitochondrial Sequence Analysis.
  65. Disorders of left ventricular trabeculation/compaction or right ventricular wall formation.
  66. Implications of genetic testing in noncompaction/hypertrabeculation.
  67. Monoamniotic monochorionic twins discordant for noncompaction cardiomyopathy.
  68. X Chromosome-Inactivation Patterns in 31 Individuals with PHACE Syndrome.
  69. Copy number variation analysis in 98 individuals with PHACE syndrome.
  70. Candidate locus analysis for PHACE syndrome.
  71. Consanguinity and the risk of congenital heart disease.
  72. Elevated miR-499 levels blunt the cardiac stress response.
  73. Array comparative genomic hybridization analysis in patients with anophthalmia, microphthalmia, and coloboma.
  74. A genome-wide screen reveals a role for microRNA-1 in modulating cardiac cell polarity.
  75. Heart malformation: what are the chances it could happen again?
  76. Novel deoxyguanosine kinase gene mutations and viral infection predispose apparently healthy children to fulminant liver failure.
  77. Clinical and molecular features of mitochondrial DNA depletion due to mutations in deoxyguanosine kinase.
  78. Neuroimaging findings in macrocephaly-capillary malformation: a longitudinal study of 17 patients.
  79. Clinical features and management issues in Mowat-Wilson syndrome.
  80. Systemic hyalinosis: a distinctive early childhood-onset disorder characterized by mutations in the anthrax toxin receptor 2 gene (ANTRX2).
  81. Nablus mask-like facial syndrome is caused by a microdeletion of 8q detected by array-based comparative genomic hybridization.
  82. Triplication of 8p22-8p23 in a patient with features similar to Kabuki syndrome.
  84. Interaction with decay-accelerating factor facilitates coxsackievirus B infection of polarized epithelial cells.
  85. High-throughput array production using precision glass syringes.
  86. The coxsackievirus and adenovirus receptor is a transmembrane component of the tight junction.
  87. CD4/CXCR4-independent infection of human astrocytes by a T-tropic strain of HIV-1.
  88. Characterization of cultured microglia that can be infected by HIV-1.
  89. Determinants of syncytium formation in microglia by human immunodeficiency virus type 1: role of the V1/V2 domains.
  90. Microglia express CCR5, CXCR4, and CCR3, but of these, CCR5 is the principal coreceptor for human immunodeficiency virus type 1 dementia isolates.
  91. Chemokine receptor utilization by human immunodeficiency virus type 1 isolates that replicate in microglia.
  92. Use of primary CNS cultures to investigate HIV neurotropism.
  93. A vaccine carrier derived from Neisseria meningitidis with mitogenic activity for lymphocytes.