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

  • 3 Similar Profiles
Neural Tube Defects Medicine & Life Sciences
Genes Medicine & Life Sciences
Turner Syndrome Medicine & Life Sciences
Mutation Medicine & Life Sciences
Newborn Infant Medicine & Life Sciences
Parents Medicine & Life Sciences
Chromosomes, Human, Pair 7 Medicine & Life Sciences
Single Nucleotide Polymorphism Medicine & Life Sciences

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Projects 1990 2018

Research Output 1993 2018

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

Co-occurring Down syndrome and SUCLA2-related mitochondrial depletion syndrome

Couser, N. L., Marchuk, D. S., Smith, L. D., Arreola, A., Kaiser-Rogers, K. A., Muenzer, J., Pandya, A., Gucsavas-Calikoglu, M. & Powell, C. M. Oct 1 2017 In : American Journal of Medical Genetics, Part A. 173, 10, p. 2720-2724 5 p.

Research output: Contribution to journalArticle

2 Citations

Fragile X newborn screening: Lessons learned from a multisite screening study

Bailey, D. B., Berry-Kravis, E., Gane, L. W., Guarda, S., Hagerman, R., Powell, C. M., Tassone, F. & Wheeler, A. Jun 1 2017 In : Pediatrics. 139, p. S216-S225

Research output: Contribution to journalArticle

Mild achondroplasia/hypochondroplasia with acanthosis nigricans, normal development, and a p.Ser348Cys FGFR3 mutation

Couser, N. L., Pande, C. K., Turcott, C. M., Spector, E. B., Aylsworth, A. S. & Powell, C. M. Apr 1 2017 In : American Journal of Medical Genetics, Part A. 173, 4, p. 1097-1101 5 p.

Research output: Contribution to journalArticle

Receptor, Fibroblast Growth Factor, Type 3
Achondroplasia
Acanthosis Nigricans
Mutation
Thanatophoric Dysplasia