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Novel Genetic Associations and Range of Phenotypes in Children with Disorders of Sex Development and Neurodevelopment: Insights from the Deciphering Developmental Disorders Study

Overview of attention for article published in Sexual Development, September 2016
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Title
Novel Genetic Associations and Range of Phenotypes in Children with Disorders of Sex Development and Neurodevelopment: Insights from the Deciphering Developmental Disorders Study
Published in
Sexual Development, September 2016
DOI 10.1159/000447958
Pubmed ID
Authors

Gabriella Gazdagh, Edward S. Tobias, S. Faisal Ahmed, Ruth McGowan

Abstract

A range of phenotypes that are associated with disorders of sex development (DSD) may also be encountered in patients with neurodevelopmental delay. In this study we have undertaken a collaborative retrospective review of anonymised phenotypic and genotypic data from the UK-wide Deciphering Developmental Disorders (DDD) study. Our objectives were to determine the frequency and range of DSD phenotypes observed in participants in the DDD study and to identify novel genetic associations. We found that of 7,439 DDD participants, 603 (8%) had at least one genital abnormality. In addition, we found that DSD occurs in 5% of patients with learning difficulties. Causative mutations were found in 13 developmental genes, of which, crucially, 6 had no previous reported association with DSD. Our findings indicate that recognition of these associations should not be overlooked in the management of patients with complex conditions and that exomic sequencing through projects like DDD increases diagnostic yield.

Mendeley readers

Mendeley readers

The data shown below were compiled from readership statistics for 11 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Unknown 11 100%

Demographic breakdown

Readers by professional status Count As %
Researcher 5 45%
Student > Bachelor 2 18%
Professor 2 18%
Student > Master 1 9%
Student > Doctoral Student 1 9%
Other 0 0%
Readers by discipline Count As %
Medicine and Dentistry 4 36%
Social Sciences 2 18%
Biochemistry, Genetics and Molecular Biology 1 9%
Agricultural and Biological Sciences 1 9%
Neuroscience 1 9%
Other 1 9%
Unknown 1 9%
Attention Score in Context

Attention Score in Context

This research output has an Altmetric Attention Score of 1. 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 08 September 2016.
All research outputs
#18,469,995
of 22,886,568 outputs
Outputs from Sexual Development
#194
of 270 outputs
Outputs of similar age
#257,988
of 337,017 outputs
Outputs of similar age from Sexual Development
#5
of 9 outputs
Altmetric has tracked 22,886,568 research outputs across all sources so far. This one is in the 11th percentile – i.e., 11% of other outputs scored the same or lower than it.
So far Altmetric has tracked 270 research outputs from this source. They typically receive a little more attention than average, with a mean Attention Score of 5.7. This one is in the 11th percentile – i.e., 11% of its peers scored the same or lower than it.
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 337,017 tracked outputs that were published within six weeks on either side of this one in any source. This one is in the 12th percentile – i.e., 12% of its contemporaries scored the same or lower than it.
We're also able to compare this research output to 9 others from the same source and published within six weeks on either side of this one. This one has scored higher than 4 of them.