Tabor, Holly K.

Exome sequencing identifies the cause of a mendelian disorder

Ng, S. B., Buckingham, K. J., Lee, C., Bigham, A. W., Tabor, H. K., Dent, K. M., Huff, C. D., Shannon, P. T., Jabs, E. W., Nickerson, D. A., et al. (2010) · Nature Genetics

Genomics and Rare DiseasesGenetic Associations and Epidemiology

Cited by 1,957

Candidate-gene approaches for studying complex genetic traits: practical considerations

Tabor, H. K., Risch, N. J., & Myers, R. M. (2002) · Nature Reviews Genetics

Genetic Associations and EpidemiologyGenetic Mapping and Diversity in Plants and Animals

Cited by 1,076

The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities

Chong, J. X., Buckingham, K. J., Jhangiani, S. N., Boehm, C., Sobreira, N., Smith, J. D., Harrell, T. M., McMillin, M. J., Wiszniewski, W., Gambin, T., et al. (2015) · The American Journal of Human Genetics

Genomics and Rare DiseasesGenetic Associations and Epidemiology

Cited by 643

Actionable, Pathogenic Incidental Findings in 1,000 Participants’ Exomes

Dorschner, M. O., Amendola, L. M., Turner, E. H., Robertson, P. D., Shirts, B. H., Gallego, C. J., Bennett, R. L., Jones, K. L., Tokita, M. J., Bennett, J. T., et al. (2013) · The American Journal of Human Genetics

Genomics and Rare DiseasesGenetic Associations and Epidemiology

Cited by 385

Pathways from autism spectrum disorder diagnosis to genetic testing

Barton, K. S., Tabor, H. K., Starks, H., Garrison, N. A., Laurino, M., & Burke, W. (2018) · Genetics in Medicine

Autism Spectrum Disorder ResearchGenomics and Rare Diseases

Cited by 48

“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

Barton, K. S., Wingerson, A., Barzilay, J. R., & Tabor, H. K. (2019) · Journal of Community Genetics

Health Literacy and Information AccessibilitySocial Media in Health Education

Cited by 44

“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

Deuitch, N. T., Beckman, E., Halley, M. C., Young, J. L., Reuter, C. M., Kohler, J., Bernstein, J. A., Wheeler, M. T., Undiagnosed Diseases Network, Ormond, K. E., et al. (2021) · Journal of Genetic Counseling

Health Literacy and Information AccessibilitySocial Media in Health Education

Cited by 34

Commonalities across computational workflows for uncovering explanatory variants in undiagnosed cases

Kobren, S. N., Baldridge, D., Velinder, M., Krier, J. B., LeBlanc, K., Esteves, C., Pusey, B. N., Züchner, S., Blue, E., Lee, H., et al. (2021) · Genetics in Medicine

Genomics and Rare DiseasesGenomics and Phylogenetic Studies

Cited by 27

Patient and family social media use surrounding a novel treatment for a rare genetic disease: a qualitative interview study

Iyer, A. A., Barzilay, J. R., & Tabor, H. K. (2020) · Genetics in Medicine

Social Media in Health EducationHealth Literacy and Information Accessibility

Cited by 21