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Holly K. Tabor, Ph.D. - Publications

Affiliations: 
Stanford University, Palo Alto, CA 
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44 high-probability publications. We are testing a new system for linking publications to authors. You can help! If you notice any inaccuracies, please sign in and mark papers as correct or incorrect matches. If you identify any major omissions or other inaccuracies in the publication list, please let us know.

Year Citation  Score
2020 Iyer AA, Barzilay JR, Tabor HK. Patient and family social media use surrounding a novel treatment for a rare genetic disease: a qualitative interview study. Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 32601388 DOI: 10.1038/S41436-020-0890-6  0.331
2019 D'Angelo A, Ormond KE, Magnus D, Tabor HK. Assessing genetic counselors' experiences with physician aid-in-dying and practice implications. Journal of Genetic Counseling. 28: 164-173. PMID 30688387 DOI: 10.1002/Jgc4.1047  0.323
2018 Barton KS, Wingerson A, Barzilay JR, Tabor HK. "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. Journal of Community Genetics. PMID 30569339 DOI: 10.1007/S12687-018-0400-6  0.303
2018 Porter KM, Kauffman TL, Koenig BA, Lewis KL, Rehm HL, Richards CS, Strande NT, Tabor HK, Wolf SM, Yang Y, Amendola LM, Azzariti DR, Berg JS, Bergstrom K, Biesecker LG, et al. Approaches to carrier testing and results disclosure in translational genomics research: The clinical sequencing exploratory research consortium experience. Molecular Genetics & Genomic Medicine. PMID 30133189 DOI: 10.1002/Mgg3.453  0.407
2017 Barton KS, Tabor HK, Starks H, Garrison NA, Laurino M, Burke W. Pathways from autism spectrum disorder diagnosis to genetic testing. Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 29048417 DOI: 10.1038/Gim.2017.166  0.358
2016 Tabor HK, Jamal SM, Yu JH, Crouch JM, Shankar AG, Dent KM, Anderson N, Miller DA, Futral BT, Bamshad MJ. My46: a Web-based tool for self-guided management of genomic test results in research and clinical settings. Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 27632689 DOI: 10.1038/Gim.2016.133  0.36
2016 Green RC, Goddard KA, Jarvik GP, Amendola LM, Appelbaum PS, Berg JS, Bernhardt BA, Biesecker LG, Biswas S, Blout CL, Bowling KM, Brothers KB, Burke W, Caga-Anan CF, Chinnaiyan AM, ... ... Tabor HK, et al. Clinical Sequencing Exploratory Research Consortium: Accelerating Evidence-Based Practice of Genomic Medicine. American Journal of Human Genetics. 99: 246. PMID 27392080 DOI: 10.1016/J.Ajhg.2016.06.002  0.517
2016 Green RC, Goddard KA, Jarvik GP, Amendola LM, Appelbaum PS, Berg JS, Bernhardt BA, Biesecker LG, Biswas S, Blout CL, Bowling KM, Brothers KB, Burke W, Caga-Anan CF, Chinnaiyan AM, ... ... Tabor HK, et al. Clinical Sequencing Exploratory Research Consortium: Accelerating Evidence-Based Practice of Genomic Medicine. American Journal of Human Genetics. PMID 27181682 DOI: 10.1016/J.Ajhg.2016.04.011  0.558
2016 Nelson SC, Crouch JM, Bamshad MJ, Tabor HK, Yu JH. Use of metaphors about exome and whole genome sequencing. American Journal of Medical Genetics. Part A. PMID 26822973 DOI: 10.1002/Ajmg.A.37571  0.389
2015 Chong JX, Buckingham KJ, Jhangiani SN, Boehm C, Sobreira N, Smith JD, Harrell TM, McMillin MJ, Wiszniewski W, Gambin T, Coban Akdemir ZH, Doheny K, Scott AF, Avramopoulos D, Chakravarti A, ... ... Tabor HK, et al. The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities. American Journal of Human Genetics. 97: 199-215. PMID 26166479 DOI: 10.1016/J.Ajhg.2015.06.009  0.441
2015 Emond MJ, Louie T, Emerson J, Chong JX, Mathias RA, Knowles MR, Rieder MJ, Tabor HK, Nickerson DA, Barnes KC, Go L, Gibson RL, Bamshad MJ. Exome Sequencing of Phenotypic Extremes Identifies CAV2 and TMC6 as Interacting Modifiers of Chronic Pseudomonas aeruginosa Infection in Cystic Fibrosis. Plos Genetics. 11: e1005273. PMID 26047157 DOI: 10.1371/Journal.Pgen.1005273  0.371
2015 Chong JX, McMillin MJ, Shively KM, Beck AE, Marvin CT, Armenteros JR, Buckingham KJ, Nkinsi NT, Boyle EA, Berry MN, Bocian M, Foulds N, Uzielli ML, Haldeman-Englert C, Hennekam RC, ... ... Tabor HK, et al. De novo mutations in NALCN cause a syndrome characterized by congenital contractures of the limbs and face, hypotonia, and developmental delay. American Journal of Human Genetics. 96: 462-73. PMID 25683120 DOI: 10.1016/J.Ajhg.2015.01.003  0.326
2015 Amendola LM, Dorschner MO, Robertson PD, Salama JS, Hart R, Shirts BH, Murray ML, Tokita MJ, Gallego CJ, Kim DS, Bennett JT, Crosslin DR, Ranchalis J, Jones KL, Rosenthal EA, ... ... Tabor HK, et al. Actionable exomic incidental findings in 6503 participants: challenges of variant classification. Genome Research. 25: 305-15. PMID 25637381 DOI: 10.1101/Gr.183483.114  0.426
2015 Delgado F, Tabor HK, Chow PM, Conta JH, Feldman KW, Tsuchiya KD, Beck AE. Single-nucleotide polymorphism arrays and unexpected consanguinity: considerations for clinicians when returning results to families. Genetics in Medicine : Official Journal of the American College of Medical Genetics. 17: 400-4. PMID 25232848 DOI: 10.1038/Gim.2014.119  0.327
2015 Crouch J, Yu JH, Shankar AG, Tabor HK. "We don't know her history, her background": adoptive parents' perspectives on whole genome sequencing results. Journal of Genetic Counseling. 24: 67-77. PMID 25011977 DOI: 10.1007/S10897-014-9738-Z  0.37
2014 Tabor HK, Auer PL, Jamal SM, Chong JX, Yu JH, Gordon AS, Graubert TA, O'Donnell CJ, Rich SS, Nickerson DA, Bamshad MJ. Pathogenic variants for Mendelian and complex traits in exomes of 6,517 European and African Americans: implications for the return of incidental results. American Journal of Human Genetics. 95: 183-93. PMID 25087612 DOI: 10.1016/J.Ajhg.2014.07.006  0.423
2014 Yu JH, Harrell TM, Jamal SM, Tabor HK, Bamshad MJ. Attitudes of genetics professionals toward the return of incidental results from exome and whole-genome sequencing. American Journal of Human Genetics. 95: 77-84. PMID 24975944 DOI: 10.1016/J.Ajhg.2014.06.004  0.421
2014 Yu JH, Crouch J, Jamal SM, Bamshad MJ, Tabor HK. Attitudes of non-African American focus group participants toward return of results from exome and whole genome sequencing. American Journal of Medical Genetics. Part A. 164: 2153-60. PMID 24845082 DOI: 10.1002/Ajmg.A.36610  0.41
2014 McMillin MJ, Beck AE, Chong JX, Shively KM, Buckingham KJ, Gildersleeve HI, Aracena MI, Aylsworth AS, Bitoun P, Carey JC, Clericuzio CL, Crow YJ, Curry CJ, Devriendt K, Everman DB, ... ... Tabor HK, et al. Mutations in PIEZO2 cause Gordon syndrome, Marden-Walker syndrome, and distal arthrogryposis type 5. American Journal of Human Genetics. 94: 734-44. PMID 24726473 DOI: 10.1016/J.Ajhg.2014.03.015  0.331
2014 Gordon AS, Tabor HK, Johnson AD, Snively BM, Assimes TL, Auer PL, Ioannidis JP, Peters U, Robinson JG, Sucheston LE, Wang D, Sotoodehnia N, Rotter JI, Psaty BM, Jackson RD, et al. Quantifying rare, deleterious variation in 12 human cytochrome P450 drug-metabolism genes in a large-scale exome dataset. Human Molecular Genetics. 23: 1957-63. PMID 24282029 DOI: 10.1093/Hmg/Ddt588  0.392
2013 Dorschner MO, Amendola LM, Turner EH, Robertson PD, Shirts BH, Gallego CJ, Bennett RL, Jones KL, Tokita MJ, Bennett JT, Kim JH, Rosenthal EA, Kim DS, Tabor HK, et al. Actionable, pathogenic incidental findings in 1,000 participants' exomes. American Journal of Human Genetics. 93: 631-40. PMID 24055113 DOI: 10.1016/J.Ajhg.2013.08.006  0.428
2013 Yu JH, Jamal SM, Tabor HK, Bamshad MJ. Self-guided management of exome and whole-genome sequencing results: changing the results return model. Genetics in Medicine : Official Journal of the American College of Medical Genetics. 15: 684-90. PMID 23619276 DOI: 10.1038/Gim.2013.35  0.371
2013 Yu JH, Crouch J, Jamal SM, Tabor HK, Bamshad MJ. Attitudes of African Americans toward return of results from exome and whole genome sequencing. American Journal of Medical Genetics. Part A. 161: 1064-72. PMID 23610051 DOI: 10.1002/Ajmg.A.35914  0.422
2013 Jamal SM, Yu JH, Chong JX, Dent KM, Conta JH, Tabor HK, Bamshad MJ. Practices and policies of clinical exome sequencing providers: analysis and implications. American Journal of Medical Genetics. Part A. 161: 935-50. PMID 23610049 DOI: 10.1002/Ajmg.A.35942  0.382
2013 Jamal SM, Yu JH, Chong JX, Dent KM, Conta JH, Tabor HK, Bamshad MJ. Practices and Policies of Clinical Exome Sequencing Providers American Journal of Medical Genetics Part A. 9999: 935-950. DOI: 10.1002/J.1552-4833.2013.35942.X  0.325
2012 Tabor HK, Murray JC, Gammill HS, Kitzman JO, Snyder MW, Ventura M, Lewis AP, Qiu R, Simmons LE, Rubens CE, Santillan MK, Eichler EE, Cheng EY, Bamshad MJ, Shendure J. Non-invasive fetal genome sequencing: opportunities and challenges. American Journal of Medical Genetics. Part A. 158: 2382-4. PMID 22887792 DOI: 10.1002/Ajmg.A.35545  0.396
2012 Emond MJ, Louie T, Emerson J, Zhao W, Mathias RA, Knowles MR, Wright FA, Rieder MJ, Tabor HK, Nickerson DA, Barnes KC, Gibson RL, Bamshad MJ. Exome sequencing of extreme phenotypes identifies DCTN4 as a modifier of chronic Pseudomonas aeruginosa infection in cystic fibrosis. Nature Genetics. 44: 886-9. PMID 22772370 DOI: 10.1038/Ng.2344  0.398
2012 Kitzman JO, Snyder MW, Ventura M, Lewis AP, Qiu R, Simmons LE, Gammill HS, Rubens CE, Santillan DA, Murray JC, Tabor HK, Bamshad MJ, Eichler EE, Shendure J. Noninvasive whole-genome sequencing of a human fetus. Science Translational Medicine. 4: 137ra76. PMID 22674554 DOI: 10.1126/Scitranslmed.3004323  0.374
2012 Tabor HK, Stock J, Brazg T, McMillin MJ, Dent KM, Yu JH, Shendure J, Bamshad MJ. Informed consent for whole genome sequencing: a qualitative analysis of participant expectations and perceptions of risks, benefits, and harms. American Journal of Medical Genetics. Part A. 158: 1310-9. PMID 22532433 DOI: 10.1002/Ajmg.A.35328  0.36
2012 Tabor HK, Bamshad MJ. Unanticipated results from exome sequencing/whole genome sequencing: The sky won't fall American Journal of Medical Genetics, Part A. 158: 2643-2644. DOI: 10.1002/Ajmg.A.35546  0.327
2011 Tabor HK, Brazg T, Crouch J, Namey EE, Fullerton SM, Beskow LM, Wilfond BS. Parent perspectives on pediatric genetic research and implications for genotype-driven research recruitment. Journal of Empirical Research On Human Research Ethics : Jerhre. 6: 41-52. PMID 22228059 DOI: 10.1525/Jer.2011.6.4.41  0.348
2011 Tabor HK, Berkman BE, Hull SC, Bamshad MJ. Genomics really gets personal: how exome and whole genome sequencing challenge the ethical framework of human genetics research. American Journal of Medical Genetics. Part A. 155: 2916-24. PMID 22038764 DOI: 10.1002/Ajmg.A.34357  0.431
2011 Bamshad MJ, Ng SB, Bigham AW, Tabor HK, Emond MJ, Nickerson DA, Shendure J. Exome sequencing as a tool for Mendelian disease gene discovery. Nature Reviews. Genetics. 12: 745-55. PMID 21946919 DOI: 10.1038/Nrg3031  0.426
2011 Hannibal MC, Buckingham KJ, Ng SB, Ming JE, Beck AE, McMillin MJ, Gildersleeve HI, Bigham AW, Tabor HK, Mefford HC, Cook J, Yoshiura K, Matsumoto T, Matsumoto N, Miyake N, et al. Spectrum of MLL2 (ALR) mutations in 110 cases of Kabuki syndrome. American Journal of Medical Genetics. Part A. 155: 1511-6. PMID 21671394 DOI: 10.1002/Ajmg.A.34074  0.312
2010 Ng SB, Bigham AW, Buckingham KJ, Hannibal MC, McMillin MJ, Gildersleeve HI, Beck AE, Tabor HK, Cooper GM, Mefford HC, Lee C, Turner EH, Smith JD, Rieder MJ, Yoshiura K, et al. Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome. Nature Genetics. 42: 790-3. PMID 20711175 DOI: 10.1038/Ng.646  0.397
2010 Ng SB, Buckingham KJ, Lee C, Bigham AW, Tabor HK, Dent KM, Huff CD, Shannon PT, Jabs EW, Nickerson DA, Shendure J, Bamshad MJ. Exome sequencing identifies the cause of a mendelian disorder. Nature Genetics. 42: 30-5. PMID 19915526 DOI: 10.1038/Ng.499  0.427
2009 Tabor HK, Kelley M. Challenges in the use of direct-to-consumer personal genome testing in children. The American Journal of Bioethics : Ajob. 9: 32-4. PMID 19998111 DOI: 10.1080/15265160902893916  0.338
2008 McGowan KA, Li JZ, Park CY, Beaudry V, Tabor HK, Sabnis AJ, Zhang W, Fuchs H, de Angelis MH, Myers RM, Attardi LD, Barsh GS. Ribosomal mutations cause p53-mediated dark skin and pleiotropic effects. Nature Genetics. 40: 963-70. PMID 18641651 DOI: 10.1038/Ng.188  0.493
2008 Assimes TL, Knowles JW, Priest JR, Basu A, Volcik KA, Southwick A, Tabor HK, Hartiala J, Allayee H, Grove ML, Tabibiazar R, Sidney S, Fortmann SP, Go A, Hlatky M, et al. Common polymorphisms of ALOX5 and ALOX5AP and risk of coronary artery disease. Human Genetics. 123: 399-408. PMID 18369664 DOI: 10.1007/S00439-008-0489-5  0.511
2008 Assimes TL, Knowles JW, Priest JR, Basu A, Borchert A, Volcik KA, Grove ML, Tabor HK, Southwick A, Tabibiazar R, Sidney S, Boerwinkle E, Go AS, Iribarren C, Hlatky MA, et al. A near null variant of 12/15-LOX encoded by a novel SNP in ALOX15 and the risk of coronary artery disease. Atherosclerosis. 198: 136-44. PMID 17959182 DOI: 10.1016/J.Atherosclerosis.2007.09.003  0.509
2007 Hlatky MA, Quertermous T, Boothroyd DB, Priest JR, Glassford AJ, Myers RM, Fortmann SP, Iribarren C, Tabor HK, Assimes TL, Tibshirani RJ, Go AS. Polymorphisms in hypoxia inducible factor 1 and the initial clinical presentation of coronary disease. American Heart Journal. 154: 1035-42. PMID 18035072 DOI: 10.1016/J.Ahj.2007.07.042  0.486
2007 Tabor HK, Cho MK. Ethical implications of array comparative genomic hybridization in complex phenotypes: points to consider in research. Genetics in Medicine : Official Journal of the American College of Medical Genetics. 9: 626-31. PMID 17873651 DOI: 10.1097/Gim.0B013E3181485688  0.373
2002 Tabor HK, Risch NJ, Myers RM. Candidate-gene approaches for studying complex genetic traits: practical considerations. Nature Reviews. Genetics. 3: 391-7. PMID 11988764 DOI: 10.1038/Nrg796  0.508
2002 Li J, Tabor HK, Nguyen L, Gleason C, Lotspeich LJ, Spiker D, Risch N, Myers RM. Lack of association between HoxA1 and HoxB1 gene variants and autism in 110 multiplex families. American Journal of Medical Genetics. 114: 24-30. PMID 11840501 DOI: 10.1002/Ajmg.1618  0.573
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