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Author Details

Holly K Tabor
Stanford Center for Biomedical Ethics (SCBE), Stanford University
2000
70
33
PMIDPaper TitleJournal TitlePublished Year
36301246Latinx attitudes, barriers, and experiences with genetic counseling and testing: A systematic review.J Genet Couns2023
37204146Rare Disease, Advocacy and Justice: Intersecting Disparities in Research and Clinical Care.Am J Bioeth2023
36821112Characterizing Moral Injury and Distress in US Military Surgeons Deployed to Far-Forward Combat Environments in Afghanistan and Iraq.JAMA Netw Open2023
34981646Perceived utility and disutility of genomic sequencing for pediatric patients: Perspectives from parents with diverse sociodemographic characteristics.Am J Med Genet A2022
36542454Perspectives of Rare Disease Social Media Group Participants on Engaging With Genetic Counselors: Mixed Methods Study.J Med Internet Res2022
36072659Beyond race: Recruitment of diverse participants in clinical genomics research for rare disease.Front Genet2022
35902745Supporting undiagnosed participants when clinical genomics studies end.Nat Genet2022
35256804A call for an integrated approach to improve efficiency, equity and sustainability in rare disease research in the United States.Nat Genet2022
33420343"It seems like COVID-19 now is the only disease present on Earth": living with a rare or undiagnosed disease during the COVID-19 pandemic.Genet Med2021
34096130"Doctors can read about it, they can know about it, but they've never lived with it": How parents use social media throughout the diagnostic odyssey.J Genet Couns2021
34282302Opportunities and pitfalls of social media research in rare genetic diseases: a systematic review.Genet Med2021
33972720Genetic counseling and testing for Asian Americans: a systematic review.Genet Med2021
32223624Civic Engagement, Autism and Deliberative Democracy: Prioritizing the Inclusion of Marginalized Perspectives.Am J Bioeth2020
32601388Patient and family social media use surrounding a novel treatment for a rare genetic disease: a qualitative interview study.Genet Med2020
32330224Ventilator Triage Policies During the COVID-19 Pandemic at U.S. Hospitals Associated With Members of the Association of Bioethics Program Directors.Ann Intern Med2020
30688387Assessing genetic counselors' experiences with physician aid-in-dying and practice implications.J Genet Couns2019
31048483Consent insufficient for data release.Science2019
30594933Perspectives on Spinraza (Nusinersen) Treatment Study: Views of Individuals and Parents of Children Diagnosed with Spinal Muscular Atrophy.J Neuromuscul Dis2019
30569339"Before Facebook and before social media⿦we did not know anybody else that had this": parent perspectives on internet and social media use during the pediatric clinical genetic testing process.J Community Genet2019
30592451High-Throughput Sequencing in Respiratory, Critical Care, and Sleep Medicine Research. An Official American Thoracic Society Workshop Report.Ann Am Thorac Soc2019
29048417Pathways from autism spectrum disorder diagnosis to genetic testing.Genet Med2018
30242814What Precision Medicine Can Learn from Rare Genetic Disease Research and Translation.AMA J Ethics2018
30133189Approaches to carrier testing and results disclosure in translational genomics research: The clinical sequencing exploratory research consortium experience.Mol Genet Genomic Med2018
29228163Ethical Challenges Confronted When Providing Nusinersen Treatment for Spinal Muscular Atrophy.JAMA Pediatr2018
27632689My46: a Web-based tool for self-guided management of genomic test results in research and clinical settings.Genet Med2017
26822973Use of metaphors about exome and whole genome sequencing.Am J Med Genet A2016
26656649Gene discovery for Mendelian conditions via social networking: de novo variants in KDM1A cause developmental delay and distinctive facial features.Genet Med2016
27392080Clinical Sequencing Exploratory Research Consortium: Accelerating Evidence-Based Practice of Genomic Medicine.Am J Hum Genet2016
27181682Clinical Sequencing Exploratory Research Consortium: Accelerating Evidence-Based Practice of Genomic Medicine.Am J Hum Genet2016
25011977"We don't know her history, her background": adoptive parents' perspectives on whole genome sequencing results.J Genet Couns2015
26284524Correction: Exome Sequencing of Phenotypic Extremes Identifies CAV2 and TMC6 as Interacting Modifiers of Chronic Pseudomonas aeruginosa Infection in Cystic Fibrosis.PLoS Genet2015
26701097"Women Who Don't Give a Crap".PLoS Genet2015
26047157Exome Sequencing of Phenotypic Extremes Identifies CAV2 and TMC6 as Interacting Modifiers of Chronic Pseudomonas aeruginosa Infection in Cystic Fibrosis.PLoS Genet2015
26166479The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities.Am J Hum Genet2015
25683120De novo mutations in NALCN cause a syndrome characterized by congenital contractures of the limbs and face, hypotonia, and developmental delay.Am J Hum Genet2015
25637381Actionable exomic incidental findings in 6503 participants: challenges of variant classification.Genome Res2015
25232848Single-nucleotide polymorphism arrays and unexpected consanguinity: considerations for clinicians when returning results to families.Genet Med2015
24282029Quantifying rare, deleterious variation in 12 human cytochrome P450 drug-metabolism genes in a large-scale exome dataset.Hum Mol Genet2014
24975944Attitudes of genetics professionals toward the return of incidental results from exome and whole-genome sequencing.Am J Hum Genet2014
25087612Pathogenic variants for Mendelian and complex traits in exomes of 6,517 European and African Americans: implications for the return of incidental results.Am J Hum Genet2014
24845082Attitudes of non-African American focus group participants toward return of results from exome and whole genome sequencing.Am J Med Genet A2014
24726473Mutations in PIEZO2 cause Gordon syndrome, Marden-Walker syndrome, and distal arthrogryposis type 5.Am J Hum Genet2014
22917844Priorities for autism spectrum disorder risk communication and ethics.Autism2013
24055113Actionable, pathogenic incidental findings in 1,000 participants' exomes.Am J Hum Genet2013
23610051Attitudes of African Americans toward return of results from exome and whole genome sequencing.Am J Med Genet A2013
23610049Practices and policies of clinical exome sequencing providers: analysis and implications.Am J Med Genet A2013
23619276Self-guided management of exome and whole-genome sequencing results: changing the results return model.Genet Med2013
23541344Mutations in KCTD1 cause scalp-ear-nipple syndrome.Am J Hum Genet2013
22674554Noninvasive whole-genome sequencing of a human fetus.Sci Transl Med2012
22772370Exome sequencing of extreme phenotypes identifies DCTN4 as a modifier of chronic Pseudomonas aeruginosa infection in cystic fibrosis.Nat Genet2012
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Collaborators

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Co-authored papers 27
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Co-authored papers 18
University of Washington School of Medicine
Co-authored papers 13
University of Washington
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Division of Clinical and Metabolic Genetics (R.K., The Hospital for Sick Children
Co-authored papers 10
Brotman Baty Institute for Precision Medicine, University of Washington
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University of Washington
Co-authored papers 7
The Heart Institute, Cincinnati Children's Hospital Medical Center
Co-authored papers 6
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Co-authored papers 6
University of Washington School of Medicine.
Co-authored papers 6
Co-authored papers 5
Illumina Inc.
Co-authored papers 5
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Co-authored papers 5
HudsonAlpha Institute for Biotechnology
Co-authored papers 5
University of Washington Medical Center
Co-authored papers 5
University of Washington
Co-authored papers 5
National Human Genome Research Institute, National Institutes of Health
Co-authored papers 4
Co-authored papers 4
Co-authored papers 4
Stanford University
Co-authored papers 4
The Broad Institute of MIT and Harvard
Co-authored papers 4
University of California-San Francisco.
Co-authored papers 4
University of North Carolina
Co-authored papers 4
Case Western Reserve University
Co-authored papers 4
Institute for Public Health Genetics, University of Washington
Co-authored papers 4
Center for Biomedical Ethics, Stanford University School of Medicine
Co-authored papers 4
Harvard Medical School, Vanderbilt University, Yale University Yale Law School
Co-authored papers 3
University of North Carolina-Chapel Hill
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