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Clinical dividends from the molecular genetic diagnosis of craniosynostosis†

Overview of attention for article published in American Journal of Medical Genetics. Part A, July 2007
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Title
Clinical dividends from the molecular genetic diagnosis of craniosynostosis†
Published in
American Journal of Medical Genetics. Part A, July 2007
DOI 10.1002/ajmg.a.31905
Pubmed ID
Authors

Andrew O.M. Wilkie, Elena G. Bochukova, Ruth M. S. Hansen, Indira B. Taylor, Sahan V. Rannan‐Eliya, Jo C. Byren, Steven A. Wall, Lina Ramos, Margarida Venâncio, Jane A. Hurst, Anthony W. O'Rourke, Louise J. Williams, Anneke Seller, Tracy Lester

Abstract

A dozen years have passed since the first genetic lesion was identified in a family with craniosynostosis, the premature fusion of the cranial sutures. Subsequently, mutations in the FGFR2, FGFR3, TWIST1, and EFNB1 genes have been shown to account for approximately 25% of craniosynostosis, whilst several additional genes make minor contributions. Using specific examples, we show how these discoveries have enabled refinement of information on diagnosis, recurrence risk, prognosis for mental development, and surgical planning. However, phenotypic variability can present a significant challenge to the clinical interpretation of molecular genetic tests. In particular, the difficulty of analyzing the complex interaction of genetic background and prenatal environment in determining clinical features, limits the value of identifying low penetrance mutations.

Mendeley readers

Mendeley readers

The data shown below were compiled from readership statistics for 3 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Unknown 3 100%

Demographic breakdown

Readers by professional status Count As %
Professor 1 33%
Other 1 33%
Unknown 1 33%
Readers by discipline Count As %
Biochemistry, Genetics and Molecular Biology 1 33%
Medicine and Dentistry 1 33%
Unknown 1 33%
Attention Score in Context

Attention Score in Context

This research output has an Altmetric Attention Score of 3. This is our high-level measure of the quality and quantity of online attention that it has received. This Attention Score, as well as the ranking and number of research outputs shown below, was calculated when the research output was last mentioned on 12 September 2020.
All research outputs
#8,534,528
of 25,373,627 outputs
Outputs from American Journal of Medical Genetics. Part A
#1,026
of 4,208 outputs
Outputs of similar age
#28,623
of 79,131 outputs
Outputs of similar age from American Journal of Medical Genetics. Part A
#6
of 18 outputs
Altmetric has tracked 25,373,627 research outputs across all sources so far. This one is in the 43rd percentile – i.e., 43% of other outputs scored the same or lower than it.
So far Altmetric has tracked 4,208 research outputs from this source. They receive a mean Attention Score of 4.3. This one has gotten more attention than average, scoring higher than 57% of its peers.
Older research outputs will score higher simply because they've had more time to accumulate mentions. To account for age we can compare this Altmetric Attention Score to the 79,131 tracked outputs that were published within six weeks on either side of this one in any source. This one is in the 15th percentile – i.e., 15% of its contemporaries scored the same or lower than it.
We're also able to compare this research output to 18 others from the same source and published within six weeks on either side of this one. This one is in the 11th percentile – i.e., 11% of its contemporaries scored the same or lower than it.