↓ Skip to main content

Diagnosis and management of Cornelia de Lange syndrome: first international consensus statement

Overview of attention for article published in Nature Reviews Genetics, July 2018
Altmetric Badge

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 (81st percentile)

Mentioned by

twitter
21 tweeters
facebook
1 Facebook page

Citations

dimensions_citation
14 Dimensions

Readers on

mendeley
75 Mendeley
Title
Diagnosis and management of Cornelia de Lange syndrome: first international consensus statement
Published in
Nature Reviews Genetics, July 2018
DOI 10.1038/s41576-018-0031-0
Pubmed ID
Authors

Antonie D. Kline, Joanna F. Moss, Angelo Selicorni, Anne-Marie Bisgaard, Matthew A. Deardorff, Peter M. Gillett, Stacey L. Ishman, Lynne M. Kerr, Alex V. Levin, Paul A. Mulder, Feliciano J. Ramos, Jolanta Wierzba, Paola Francesca Ajmone, David Axtell, Natalie Blagowidow, Anna Cereda, Antonella Costantino, Valerie Cormier-Daire, David FitzPatrick, Marco Grados, Laura Groves, Whitney Guthrie, Sylvia Huisman, Frank J. Kaiser, Gerritjan Koekkoek, Mary Levis, Milena Mariani, Joseph P. McCleery, Leonie A. Menke, Amy Metrena, Julia O’Connor, Chris Oliver, Juan Pie, Sigrid Piening, Carol J. Potter, Ana L. Quaglio, Egbert Redeker, David Richman, Claudia Rigamonti, Angell Shi, Zeynep Tümer, Ingrid D. C. Van Balkom, Raoul C. Hennekam

Abstract

Cornelia de Lange syndrome (CdLS) is an archetypical genetic syndrome that is characterized by intellectual disability, well-defined facial features, upper limb anomalies and atypical growth, among numerous other signs and symptoms. It is caused by variants in any one of seven genes, all of which have a structural or regulatory function in the cohesin complex. Although recent advances in next-generation sequencing have improved molecular diagnostics, marked heterogeneity exists in clinical and molecular diagnostic approaches and care practices worldwide. Here, we outline a series of recommendations that document the consensus of a group of international experts on clinical diagnostic criteria, both for classic CdLS and non-classic CdLS phenotypes, molecular investigations, long-term management and care planning.

Twitter Demographics

The data shown below were collected from the profiles of 21 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 75 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Unknown 75 100%

Demographic breakdown

Readers by professional status Count As %
Student > Bachelor 13 17%
Researcher 13 17%
Unspecified 10 13%
Other 10 13%
Student > Ph. D. Student 10 13%
Other 19 25%
Readers by discipline Count As %
Medicine and Dentistry 21 28%
Biochemistry, Genetics and Molecular Biology 15 20%
Agricultural and Biological Sciences 12 16%
Unspecified 11 15%
Nursing and Health Professions 4 5%
Other 12 16%

Attention Score in Context

This research output has an Altmetric Attention Score of 10. 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 17 July 2019.
All research outputs
#1,537,409
of 13,381,736 outputs
Outputs from Nature Reviews Genetics
#892
of 2,117 outputs
Outputs of similar age
#49,891
of 266,348 outputs
Outputs of similar age from Nature Reviews Genetics
#22
of 28 outputs
Altmetric has tracked 13,381,736 research outputs across all sources so far. Compared to these this one has done well and is in the 88th percentile: it's in the top 25% of all research outputs ever tracked by Altmetric.
So far Altmetric has tracked 2,117 research outputs from this source. They typically receive a lot more attention than average, with a mean Attention Score of 22.4. 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 266,348 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 81% of its contemporaries.
We're also able to compare this research output to 28 others from the same source and published within six weeks on either side of this one. This one is in the 21st percentile – i.e., 21% of its contemporaries scored the same or lower than it.