Carolyn (Sue) Richards


  • 13198 Citations
  • 38 h-Index
1978 …2020

Research output per year

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Research Output

CFTR variant testing: a technical standard of the American College of Medical Genetics and Genomics (ACMG)

ACMG Laboratory Quality Assurance Committee, Jan 1 2020, (Accepted/In press) In : Genetics in Medicine.

Research output: Contribution to journalArticle

Open Access
  • Secondary findings from clinical genomic sequencing: prevalence, patient perspectives, family history assessment, and health-care costs from a multisite study

    Hart, M. R., Biesecker, B. B., Blout, C. L., Christensen, K. D., Amendola, L. M., Bergstrom, K. L., Biswas, S., Bowling, K. M., Brothers, K. B., Conlin, L. K., Cooper, G. M., Dulik, M. C., East, K. M., Everett, J. N., Finnila, C. R., Ghazani, A. A., Gilmore, M. J., Goddard, K. A. B., Jarvik, G. P., Johnston, J. J. & 22 others, Kauffman, T. L., Kelley, W. V., Krier, J. B., Lewis, K. L., McGuire, A. L., McMullen, C., Ou, J., Plon, S. E., Rehm, H. L., Richards, C. S., Romasko, E. J., Miren Sagardia, A., Spinner, N. B., Thompson, M. L., Turbitt, E., Vassy, J. L., Wilfond, B. S., Veenstra, D. L., Berg, J. S., Green, R. C., Biesecker, L. G. & Hindorff, L. A., May 1 2019, In : Genetics in Medicine. 21, 5, p. 1100-1110 11 p.

    Research output: Contribution to journalArticle

  • 16 Scopus citations

    A case for expanding carrier testing to include actionable X-linked disorders

    Rope, A. F., Kauffman, T. L., Himes, P., Amendola, L. M., Punj, S., Akkari, Y., Potter, A., Davis, J. V., Schneider, J. L., Reiss, J. A., Gilmore, M. J., McMullen, C. K., Nickerson, D. A., Richards, C. S., Jarvik, G. P., Wilfond, B. S. & Goddard, K. A. B., Jan 1 2018, (Accepted/In press) In : Clinical Case Reports.

    Research output: Contribution to journalArticle

  • Approaches to carrier testing and results disclosure in translational genomics research: The clinical sequencing exploratory research consortium experience

    The members of the CSER Actionability and Return of Results Working Group, Jan 1 2018, (Accepted/In press) In : Molecular Genetics and Genomic Medicine.

    Research output: Contribution to journalArticle

  • 3 Scopus citations

    Lessons learned from a study of genomics-based carrier screening for reproductive decision making

    Wilfond, B. S., Kauffman, T. L., Jarvik, G. P., Reiss, J. A., Richards, C. S., McMullen, C., Gilmore, M., Himes, P., Kraft, S. A., Porter, K. M., Schneider, J. L., Punj, S., Leo, M. C., Dickerson, J. F., Lynch, F. L., Clarke, E., Rope, A. F., Lutz, K. & Goddard, K. A. B., Jan 1 2018, In : Health Affairs. 37, 5, p. 809-816 8 p.

    Research output: Contribution to journalComment/debate

  • 3 Scopus citations