Holly K Tabor

Summary

Affiliation: University of Washington
Country: USA

Publications

  1. pmc Informed consent for whole genome sequencing: a qualitative analysis of participant expectations and perceptions of risks, benefits, and harms
    Holly K Tabor
    Department of Pediatrics, University of Washington, Seattle, Washington, USA
    Am J Med Genet A 158:1310-9. 2012
  2. pmc Parent perspectives on pediatric genetic research and implications for genotype-driven research recruitment
    Holly K Tabor
    Seattle Children s Research Institute University of Washington, Treuman Katz Center for Pediatric Bioethics, 1900 Ninth Ave, Seattle, WA 98101, USA
    J Empir Res Hum Res Ethics 6:41-52. 2011
  3. doi request reprint Genomics really gets personal: how exome and whole genome sequencing challenge the ethical framework of human genetics research
    Holly K Tabor
    Department of Pediatrics, University of Washington, Seattle, Washington, USA
    Am J Med Genet A 155:2916-24. 2011
  4. pmc Spectrum of MLL2 (ALR) mutations in 110 cases of Kabuki syndrome
    Mark C Hannibal
    Department of Pediatrics, University of Washington, Seattle, 98195, USA
    Am J Med Genet A 155:1511-6. 2011
  5. doi request reprint Exome sequencing as a tool for Mendelian disease gene discovery
    Michael J Bamshad
    Department of Pediatrics, University of Washington, Health Sciences Building RR349, 1959 NE Pacific Street, Seattle, Washington 98195 6320, USA
    Nat Rev Genet 12:745-55. 2011
  6. pmc Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome
    Sarah B Ng
    Department of Genome Sciences, University of Washington, Seattle, Washington, USA
    Nat Genet 42:790-3. 2010
  7. pmc Self-guided management of exome and whole-genome sequencing results: changing the results return model
    Joon Ho Yu
    Department of Pediatrics, University of Washington, Seattle, Washington, USA
    Genet Med 15:684-90. 2013
  8. pmc Attitudes of African Americans toward return of results from exome and whole genome sequencing
    Joon Ho Yu
    Department of Pediatrics, University of Washington, Seattle, WA 98195, USA
    Am J Med Genet A 161:1064-72. 2013
  9. pmc Practices and policies of clinical exome sequencing providers: analysis and implications
    Seema M Jamal
    Department of Pediatrics, University of Washington, Seattle, WA 98195, USA
    Am J Med Genet A 161:935-50. 2013
  10. pmc Mutations in PIEZO2 cause Gordon syndrome, Marden-Walker syndrome, and distal arthrogryposis type 5
    Margaret J McMillin
    Department of Pediatrics, University of Washington, Seattle, WA 98195, USA
    Am J Hum Genet 94:734-44. 2014

Collaborators

Detail Information

Publications15

  1. pmc Informed consent for whole genome sequencing: a qualitative analysis of participant expectations and perceptions of risks, benefits, and harms
    Holly K Tabor
    Department of Pediatrics, University of Washington, Seattle, Washington, USA
    Am J Med Genet A 158:1310-9. 2012
    ..Web-based tools that facilitate participant management of their individual research results could accommodate such a framework...
  2. pmc Parent perspectives on pediatric genetic research and implications for genotype-driven research recruitment
    Holly K Tabor
    Seattle Children s Research Institute University of Washington, Treuman Katz Center for Pediatric Bioethics, 1900 Ninth Ave, Seattle, WA 98101, USA
    J Empir Res Hum Res Ethics 6:41-52. 2011
    ..Assessing the expectations of target research populations will be beneficial for developing best practices for pediatric genetic research, return of results, and genotype-driven recruitment...
  3. doi request reprint Genomics really gets personal: how exome and whole genome sequencing challenge the ethical framework of human genetics research
    Holly K Tabor
    Department of Pediatrics, University of Washington, Seattle, Washington, USA
    Am J Med Genet A 155:2916-24. 2011
    ..We provide broad guidance about interim ways to contend with these issues and make broad recommendations for areas for novel resource and policy development...
  4. pmc Spectrum of MLL2 (ALR) mutations in 110 cases of Kabuki syndrome
    Mark C Hannibal
    Department of Pediatrics, University of Washington, Seattle, 98195, USA
    Am J Med Genet A 155:1511-6. 2011
    ..These results are important for understanding the phenotypic consequences of MLL2 mutations for individuals and their families as well as for providing a basis for the identification of additional genes for Kabuki syndrome...
  5. doi request reprint Exome sequencing as a tool for Mendelian disease gene discovery
    Michael J Bamshad
    Department of Pediatrics, University of Washington, Health Sciences Building RR349, 1959 NE Pacific Street, Seattle, Washington 98195 6320, USA
    Nat Rev Genet 12:745-55. 2011
    ..These advances also set the stage for applying exome and whole-genome sequencing to facilitate clinical diagnosis and personalized disease-risk profiling...
  6. pmc Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome
    Sarah B Ng
    Department of Genome Sciences, University of Washington, Seattle, Washington, USA
    Nat Genet 42:790-3. 2010
    ..Our results strongly suggest that mutations in MLL2 are a major cause of Kabuki syndrome...
  7. pmc Self-guided management of exome and whole-genome sequencing results: changing the results return model
    Joon Ho Yu
    Department of Pediatrics, University of Washington, Seattle, Washington, USA
    Genet Med 15:684-90. 2013
    ..We describe key challenges and advantages of such a self-guided management system and offer guidance on implementation using an information systems approach...
  8. pmc Attitudes of African Americans toward return of results from exome and whole genome sequencing
    Joon Ho Yu
    Department of Pediatrics, University of Washington, Seattle, WA 98195, USA
    Am J Med Genet A 161:1064-72. 2013
    ..This is due in part to different expectations of health benefits from ES/WGS and how results should be managed. Our results underscore the need to develop and test culturally tailored strategies for returning ES/WGS results to AAs...
  9. pmc Practices and policies of clinical exome sequencing providers: analysis and implications
    Seema M Jamal
    Department of Pediatrics, University of Washington, Seattle, WA 98195, USA
    Am J Med Genet A 161:935-50. 2013
    ..Approaches toward informed consent, data sharing, and results return vary widely among ES providers as do the overall potential merits and disadvantages of each, and more importantly, the balance between the two...
  10. pmc Mutations in PIEZO2 cause Gordon syndrome, Marden-Walker syndrome, and distal arthrogryposis type 5
    Margaret J McMillin
    Department of Pediatrics, University of Washington, Seattle, WA 98195, USA
    Am J Hum Genet 94:734-44. 2014
    ..0001). Collectively, although GS, DA5, and MWS have traditionally been considered separate disorders, our findings indicate that they are etiologically related and perhaps represent variable expressivity of the same condition. ..
  11. pmc Exome sequencing of extreme phenotypes identifies DCTN4 as a modifier of chronic Pseudomonas aeruginosa infection in cystic fibrosis
    Mary J Emond
    Department of Biostatistics, University of Washington, Seattle, Washington, USA
    Nat Genet 44:886-9. 2012
    ..aeruginosa airway infection, chronic P. aeruginosa infection and mucoid P. aeruginosa in individuals with cystic fibrosis...
  12. pmc Attitudes of genetics professionals toward the return of incidental results from exome and whole-genome sequencing
    Joon Ho Yu
    Department of Pediatrics, University of Washington, Seattle, WA 98195, USA Electronic address
    Am J Hum Genet 95:77-84. 2014
    ....
  13. pmc Exome sequencing identifies the cause of a mendelian disorder
    Sarah B Ng
    Department of Genome Sciences, University of Washington, Seattle, Washington, USA
    Nat Genet 42:30-5. 2010
    ..Exome sequencing of a small number of unrelated affected individuals is a powerful, efficient strategy for identifying the genes underlying rare mendelian disorders and will likely transform the genetic analysis of monogenic traits...
  14. pmc Actionable, pathogenic incidental findings in 1,000 participants' exomes
    Michael O Dorschner
    Department of Genome Sciences, University of Washington, Seattle, WA 98195, USA Department of Psychiatry and Behavioral Sciences, University of Washington, Seattle, WA 98195, USA Department of Laboratory Medicine, University of Washington, Seattle, WA 98195, USA
    Am J Hum Genet 93:631-40. 2013
    ....
  15. pmc Ethical implications of array comparative genomic hybridization in complex phenotypes: points to consider in research
    Holly K Tabor
    Stanford Center for Biomedical Ethics, Department of Pediatrics, Stanford University School of Medicine, Palo Alto, California, USA
    Genet Med 9:626-31. 2007
    ..Our goal was to identify points to consider for researchers, clinicians, and patients/families to ensure responsible and ethical design, presentation, and interpretation of these kinds of studies...