Carolyn (Sue) Richards


  • 8909 Citations
  • 37 h-Index
1978 …2018
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Research Output 1978 2018

  • 8909 Citations
  • 37 h-Index
  • 123 Article
  • 4 Comment/debate
  • 1 Chapter

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
3 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

Decision Making
Delivery of Health Care
Health Services Research
2 Citations

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 othersGoddard, 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
1 Citations

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

Venous thromboembolism laboratory testing (factor V Leiden and factor II c.*97G>A), 2018 update: a technical standard of the American College of Medical Genetics and Genomics (ACMG)

on behalf of the ACMG Laboratory Quality Assurance Committee, Jan 1 2018, (Accepted/In press) In : Genetics in Medicine.

Research output: Contribution to journalArticle

Venous Thromboembolism
Genetic Testing
Genetic Counseling