Carolyn (Sue) Richards

Professor

  • 8909 Citations
  • 37 h-Index
1978 …2018
If you made any changes in Pure, your changes will be visible here soon.

Fingerprint Fingerprint is based on mining the text of the experts' scientific documents to create an index of weighted terms, which defines the key subjects of each individual researcher.

  • 4 Similar Profiles
Genetic Testing Medicine & Life Sciences
Mutation Medicine & Life Sciences
Genes Medicine & Life Sciences
Cystic Fibrosis Medicine & Life Sciences
Medical Genetics Medicine & Life Sciences
Molecular Biology Medicine & Life Sciences
Alleles Medicine & Life Sciences
Genomics Medicine & Life Sciences

Network Recent external collaboration on country level. Dive into details by clicking on the dots.

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

Genome
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

Genomics
Decision Making
Delivery of Health Care
Workflow
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

Genomics
Genome
Guidelines
RNA Splicing
Hemochromatosis
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
Genomics
Publications
Phenotype
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
Prothrombin
Genomics
Genetic Testing
Genetic Counseling