• 2032 Citations
  • 25 h-Index
1990 …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.

  • 2 Similar Profiles
Neural Tube Defects Medicine & Life Sciences
Genes Medicine & Life Sciences
Newborn Infant Medicine & Life Sciences
Turner Syndrome Medicine & Life Sciences
Exome Medicine & Life Sciences
Parents Medicine & Life Sciences
Mutation Medicine & Life Sciences
Chromosomes, Human, Pair 7 Medicine & Life Sciences

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

Projects 1990 2018

Research Output 1993 2018

A behavior-theoretic evaluation of values clarification on parental beliefs and intentions toward genomic sequencing for newborns

Paquin, R. S., Peinado, S., Lewis, M. A., Biesecker, B. B., Rini, C., Roche, M. I., Butterfield, R. M., Powell, C. M., Berg, J. S. & Bailey, D. B., Jan 1 2018, (Accepted/In press) In : Social Science and Medicine.

Research output: Contribution to journalArticle

behavior evaluation
decision aid
Decision Support Techniques
Newborn Infant
Values

Combination of exome sequencing and immune testing confirms Aicardi-Goutières syndrome type 5 in a challenging pediatric neurology case

Haskell, G. T., Mori, M., Powell, C. M., Amrhein, T. J., Rice, G. I., Bailey, L., Strande, N., Weck-Taylor, K. E., Evans, J. P., Berg, J. S. & Kishnani, P., Oct 1 2018, In : Cold Spring Harbor molecular case studies. 4, 5

Research output: Contribution to journalArticle

Exome
Neurology
Pediatrics
Genetic Databases
Interferon Type I

Evaluating parents' decisions about next-generation sequencing for their child in the NC NEXUS (North Carolina Newborn Exome Sequencing for Universal Screening) study: A randomized controlled trial protocol

Milko, L. V., Rini, C., Lewis, M. A., Butterfield, R. M., Lin, F. C., Paquin, R. S., Powell, B. C., Roche, M. I., Souris, K. J., Bailey, D. B., Berg, J. S. & Powell, C. M., Jun 28 2018, In : Trials. 19, 1, 344.

Research output: Contribution to journalArticle

Exome
Clinical Protocols
Randomized Controlled Trials
Parents
Newborn Infant
3 Citations

Parental preferences toward genomic sequencing for non-medically actionable conditions in children: A discrete-choice experiment

Lewis, M. A., Stine, A., Paquin, R. S., Mansfield, C., Wood, D., Rini, C., Roche, M. I., Powell, C. M., Berg, J. S. & Bailey, D. B., Feb 1 2018, In : Genetics in Medicine. 20, 2, p. 181-189 9 p.

Research output: Contribution to journalArticle

Parents
Inborn Genetic Diseases
Learning
Genome
Public Health Practice

Commentary on the decision of the American Board of Medical Genetics and Genomics to create a 24-month specialty of Laboratory Genetics and Genomics

Bieber, F. R., Cherry, A. M., Emanuel, B. S., Francke, U., Hoyme, H. E., Jackson, L. G., Morton, C. C., Muenke, M., Powell, C. M., Punnett, H. H., Rao, P. N., Schwartz, S., Stevenson, R. E. & Van Dyke, D. L., Mar 1 2017, In : Genetics in Medicine. 19, 3, p. 294-296 3 p.

Research output: Contribution to journalComment/debate