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Novel promoters and coding first exons in DLG2 linked to developmental disorders and intellectual disability

Overview of attention for article published in Genome Medicine, July 2017
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About this Attention Score

  • In the top 5% of all research outputs scored by Altmetric
  • High Attention Score compared to outputs of the same age (95th percentile)
  • High Attention Score compared to outputs of the same age and source (96th percentile)

Mentioned by

news
8 news outlets
twitter
5 tweeters
facebook
3 Facebook pages
video
1 video uploader

Citations

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11 Dimensions

Readers on

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50 Mendeley
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Title
Novel promoters and coding first exons in DLG2 linked to developmental disorders and intellectual disability
Published in
Genome Medicine, July 2017
DOI 10.1186/s13073-017-0452-y
Pubmed ID
Authors

Claudio Reggiani, Sandra Coppens, Tayeb Sekhara, Ivan Dimov, Bruno Pichon, Nicolas Lufin, Marie-Claude Addor, Elga Fabia Belligni, Maria Cristina Digilio, Flavio Faletra, Giovanni Battista Ferrero, Marion Gerard, Bertrand Isidor, Shelagh Joss, Florence Niel-Bütschi, Maria Dolores Perrone, Florence Petit, Alessandra Renieri, Serge Romana, Alexandra Topa, Joris Robert Vermeesch, Tom Lenaerts, Georges Casimir, Marc Abramowicz, Gianluca Bontempi, Catheline Vilain, Nicolas Deconinck, Guillaume Smits

Abstract

Tissue-specific integrative omics has the potential to reveal new genic elements important for developmental disorders. Two pediatric patients with global developmental delay and intellectual disability phenotype underwent array-CGH genetic testing, both showing a partial deletion of the DLG2 gene. From independent human and murine omics datasets, we combined copy number variations, histone modifications, developmental tissue-specific regulation, and protein data to explore the molecular mechanism at play. Integrating genomics, transcriptomics, and epigenomics data, we describe two novel DLG2 promoters and coding first exons expressed in human fetal brain. Their murine conservation and protein-level evidence allowed us to produce new DLG2 gene models for human and mouse. These new genic elements are deleted in 90% of 29 patients (public and in-house) showing partial deletion of the DLG2 gene. The patients' clinical characteristics expand the neurodevelopmental phenotypic spectrum linked to DLG2 gene disruption to cognitive and behavioral categories. While protein-coding genes are regarded as well known, our work shows that integration of multiple omics datasets can unveil novel coding elements. From a clinical perspective, our work demonstrates that two new DLG2 promoters and exons are crucial for the neurodevelopmental phenotypes associated with this gene. In addition, our work brings evidence for the lack of cross-annotation in human versus mouse reference genomes and nucleotide versus protein databases.

Twitter Demographics

The data shown below were collected from the profiles of 5 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 50 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Unknown 50 100%

Demographic breakdown

Readers by professional status Count As %
Student > Ph. D. Student 11 22%
Student > Master 6 12%
Researcher 6 12%
Student > Bachelor 6 12%
Student > Doctoral Student 5 10%
Other 12 24%
Unknown 4 8%
Readers by discipline Count As %
Biochemistry, Genetics and Molecular Biology 13 26%
Medicine and Dentistry 11 22%
Agricultural and Biological Sciences 8 16%
Psychology 4 8%
Computer Science 3 6%
Other 6 12%
Unknown 5 10%

Attention Score in Context

This research output has an Altmetric Attention Score of 65. 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 09 October 2017.
All research outputs
#207,382
of 11,895,477 outputs
Outputs from Genome Medicine
#52
of 871 outputs
Outputs of similar age
#10,816
of 267,232 outputs
Outputs of similar age from Genome Medicine
#1
of 25 outputs
Altmetric has tracked 11,895,477 research outputs across all sources so far. Compared to these this one has done particularly well and is in the 98th percentile: it's in the top 5% of all research outputs ever tracked by Altmetric.
So far Altmetric has tracked 871 research outputs from this source. They typically receive a lot more attention than average, with a mean Attention Score of 23.1. This one has done particularly well, scoring higher than 94% 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 267,232 tracked outputs that were published within six weeks on either side of this one in any source. This one has done particularly well, scoring higher than 95% of its contemporaries.
We're also able to compare this research output to 25 others from the same source and published within six weeks on either side of this one. This one has done particularly well, scoring higher than 96% of its contemporaries.