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Clinical and molecular diagnosis, screening and management of Beckwith–Wiedemann syndrome: an international consensus statement

Overview of attention for article published in Nature Reviews Endocrinology, January 2018
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About this Attention Score

  • In the top 25% of all research outputs scored by Altmetric
  • High Attention Score compared to outputs of the same age (89th percentile)
  • Good Attention Score compared to outputs of the same age and source (71st percentile)

Mentioned by

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30 tweeters
facebook
4 Facebook pages

Citations

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168 Dimensions

Readers on

mendeley
195 Mendeley
Title
Clinical and molecular diagnosis, screening and management of Beckwith–Wiedemann syndrome: an international consensus statement
Published in
Nature Reviews Endocrinology, January 2018
DOI 10.1038/nrendo.2017.166
Pubmed ID
Authors

Frédéric Brioude, Jennifer M. Kalish, Alessandro Mussa, Alison C. Foster, Jet Bliek, Giovanni Battista Ferrero, Susanne E. Boonen, Trevor Cole, Robert Baker, Monica Bertoletti, Guido Cocchi, Carole Coze, Maurizio De Pellegrin, Khalid Hussain, Abdulla Ibrahim, Mark D. Kilby, Malgorzata Krajewska-Walasek, Christian P. Kratz, Edmund J. Ladusans, Pablo Lapunzina, Yves Le Bouc, Saskia M. Maas, Fiona Macdonald, Katrin Õunap, Licia Peruzzi, Sylvie Rossignol, Silvia Russo, Caroleen Shipster, Agata Skórka, Katrina Tatton-Brown, Jair Tenorio, Chiara Tortora, Karen Grønskov, Irène Netchine, Raoul C. Hennekam, Dirk Prawitt, Zeynep Tümer, Thomas Eggermann, Deborah J. G. Mackay, Andrea Riccio, Eamonn R. Maher

Abstract

Beckwith-Wiedemann syndrome (BWS), a human genomic imprinting disorder, is characterized by phenotypic variability that might include overgrowth, macroglossia, abdominal wall defects, neonatal hypoglycaemia, lateralized overgrowth and predisposition to embryonal tumours. Delineation of the molecular defects within the imprinted 11p15.5 region can predict familial recurrence risks and the risk (and type) of embryonal tumour. Despite recent advances in knowledge, there is marked heterogeneity in clinical diagnostic criteria and care. As detailed in this Consensus Statement, an international consensus group agreed upon 72 recommendations for the clinical and molecular diagnosis and management of BWS, including comprehensive protocols for the molecular investigation, care and treatment of patients from the prenatal period to adulthood. The consensus recommendations apply to patients with Beckwith-Wiedemann spectrum (BWSp), covering classical BWS without a molecular diagnosis and BWS-related phenotypes with an 11p15.5 molecular anomaly. Although the consensus group recommends a tumour surveillance programme targeted by molecular subgroups, surveillance might differ according to the local health-care system (for example, in the United States), and the results of targeted and universal surveillance should be evaluated prospectively. International collaboration, including a prospective audit of the results of implementing these consensus recommendations, is required to expand the evidence base for the design of optimum care pathways.

Twitter Demographics

The data shown below were collected from the profiles of 30 tweeters who shared this research output. Click here to find out more about how the information was compiled.

Mendeley readers

The data shown below were compiled from readership statistics for 195 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Unknown 195 100%

Demographic breakdown

Readers by professional status Count As %
Other 27 14%
Student > Ph. D. Student 25 13%
Student > Bachelor 24 12%
Researcher 21 11%
Student > Master 17 9%
Other 47 24%
Unknown 34 17%
Readers by discipline Count As %
Medicine and Dentistry 91 47%
Biochemistry, Genetics and Molecular Biology 36 18%
Agricultural and Biological Sciences 9 5%
Psychology 4 2%
Nursing and Health Professions 4 2%
Other 9 5%
Unknown 42 22%

Attention Score in Context

This research output has an Altmetric Attention Score of 19. 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 01 April 2021.
All research outputs
#1,261,101
of 17,602,756 outputs
Outputs from Nature Reviews Endocrinology
#387
of 2,012 outputs
Outputs of similar age
#38,797
of 376,005 outputs
Outputs of similar age from Nature Reviews Endocrinology
#15
of 49 outputs
Altmetric has tracked 17,602,756 research outputs across all sources so far. Compared to these this one has done particularly well and is in the 92nd percentile: it's in the top 10% of all research outputs ever tracked by Altmetric.
So far Altmetric has tracked 2,012 research outputs from this source. They typically receive a lot more attention than average, with a mean Attention Score of 17.8. This one has done well, scoring higher than 80% 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 376,005 tracked outputs that were published within six weeks on either side of this one in any source. This one has done well, scoring higher than 89% of its contemporaries.
We're also able to compare this research output to 49 others from the same source and published within six weeks on either side of this one. This one has gotten more attention than average, scoring higher than 71% of its contemporaries.