Carolyn (Sue) Richards


  • 11705 Citations
  • 38 h-Index
1978 …2018
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Research Output 1978 2018

  • 11705 Citations
  • 38 h-Index
  • 126 Article
  • 4 Comment/debate
  • 1 Chapter
  • 1 Letter

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

Factor VIII
Nuclear Family
Sequence Analysis
Newborn Infant
2 Citations (Scopus)

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

Translational Medical Research
3 Citations (Scopus)

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

Decision Making
Delivery of Health Care
Health Services Research
10 Citations (Scopus)

Preconception Carrier Screening by Genome Sequencing: Results from the Clinical Laboratory

Punj, S., Akkari, Y., Huang, J., Yang, F., Creason, A., Pak, C., Potter, A., Dorschner, M. O., Nickerson, D. A., Robertson, P. D., Jarvik, G. P., Amendola, L. M., Schleit, J., Simpson, D. K., Rope, A. F., Reiss, J., Kauffman, T., Gilmore, M. J., Himes, P., Wilfond, B. & 2 others, Goddard, K. A. B. & Richards, C. S., Jan 1 2018, (Accepted/In press) In : American Journal of Human Genetics.

Research output: Contribution to journalArticle

RNA Splicing
3 Citations (Scopus)

Professional responsibilities regarding the provision, publication, and dissemination of patient phenotypes in the context of clinical genetic and genomic testing: Points to consider-A statement of the American College of Medical Genetics and Genomics (ACMG)

Bush, L. W., Beck, A. E., Biesecker, L. G., Evans, J. P., Hamosh, A., Holm, I. A., Martin, C. L., Richards, C. S. & Rehm, H. L., Feb 1 2018, In : Genetics in Medicine. 20, 2, p. 169-171 3 p.

Research output: Contribution to journalArticle

Genetic Testing
Genetic Research