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

  • 2 Similar Profiles
Genes Medicine & Life Sciences
Neural Tube Defects Medicine & Life Sciences
Mutation Medicine & Life Sciences
Newborn Infant Medicine & Life Sciences
Mothers Medicine & Life Sciences
Single Nucleotide Polymorphism Medicine & Life Sciences
Phenotype Medicine & Life Sciences
Brain Medicine & Life Sciences

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Projects 1990 2018

Research Output 1993 2017

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: Research - peer-reviewComment/debate

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: Research - peer-reviewArticle

Receptor, Fibroblast Growth Factor, Type 3
Achondroplasia
Acanthosis Nigricans
Mutation
Hypochondroplasia
9 Citations

A semiquantitative metric for evaluating clinical actionability of incidental or secondary findings from genome-scale sequencing

Berg, J. S., Foreman, A. K. M., O'Daniel, J. M., Booker, J. K., Boshe, L., Carey, T., Crooks, K. R., Jensen, B. C., Juengst, E. T., Lee, K., Nelson, D. K., Powell, B. C., Powell, C. M., Roche, M. I., Skrzynia, C., Strande, N. T., Weck, K. E., Wilhelmsen, K. C. & Evans, J. P. May 1 2016 In : Genetics in Medicine. 18, 5, p. 467-475 9 p.

Research output: Research - peer-reviewArticle

Genome
Genes
Incidental Findings
Genomics
Knowledge Bases

Erratum: Laboratory guideline for Turner syndrome (Genet Med (2010)) DOI: 10.1097/GIM.0b013e3181c684b2)

Wolff, D. J., Van Dyke, D. L. & Powell, C. M. Jan 1 2016 In : Genetics in Medicine. 18, 1, 1 p.

Research output: Research - peer-reviewComment/debate

19 Citations

Survival of children with trisomy 13 and trisomy 18: A multi-state population-based study

Meyer, R. E., Liu, G., Gilboa, S. M., Ethen, M. K., Aylsworth, A. S., Powell, C. M., Flood, T. J., Mai, C. T., Wang, Y., Canfield, M. A. & for the National Birth Defects Prevention Network Apr 1 2016 In : American Journal of Medical Genetics, Part A. 170, 4, p. 825-837 13 p.

Research output: Research - peer-reviewArticle

Population
Trisomy 13 syndrome
Trisomy 18
Mortality
Trisomy