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Coffin–Siris Syndrome with obesity, macrocephaly, hepatomegaly and hyperinsulinism caused by a mutation in the ARID1B gene

Overview of attention for article published in European Journal of Human Genetics, February 2014
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About this Attention Score

  • Good Attention Score compared to outputs of the same age (73rd percentile)
  • Good Attention Score compared to outputs of the same age and source (70th percentile)

Mentioned by

twitter
1 tweeter
wikipedia
2 Wikipedia pages

Citations

dimensions_citation
14 Dimensions

Readers on

mendeley
54 Mendeley
Title
Coffin–Siris Syndrome with obesity, macrocephaly, hepatomegaly and hyperinsulinism caused by a mutation in the ARID1B gene
Published in
European Journal of Human Genetics, February 2014
DOI 10.1038/ejhg.2014.25
Pubmed ID
Authors

Mari-Anne Vals, Eve Õiglane-Shlik, Margit Nõukas, Riina Shor, Aleksandr Peet, Mart Kals, Paula Ann Kivistik, Andres Metspalu, Katrin Õunap

Abstract

Coffin-Siris Syndrome (CSS, MIM 135900) is a rare genetic disorder, and mutations in ARID1B were recently shown to cause CSS. In this study, we report a novel ARID1B mutation identified by whole-exome sequencing in a patient with clinical features of CSS. We identified a novel heterozygous frameshift mutation c.1584delG in exon 2 of ARID1B (NM_020732.3) predicting a premature stop codon p.(Leu528Phefs*65). Sanger sequencing confirmed the c.1584delG mutation as a de novo in the proband and that it was not present either in her parents, half-sister or half-brother. Clinically, the patient presented with extreme obesity, macrocephaly, hepatomegaly, hyperinsulinism and polycystic ovarian syndrome (PCOS), which have previously not been described in CSS patients. We suggest that obesity, macrocephaly, hepatomegaly and/or PCOS may be added to the list of clinical features of ARID1B mutations, but further clinical reports are required to make a definite conclusion.European Journal of Human Genetics advance online publication, 26 February 2014; doi:10.1038/ejhg.2014.25.

Twitter Demographics

The data shown below were collected from the profile of 1 tweeter 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 54 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Italy 1 2%
Unknown 53 98%

Demographic breakdown

Readers by professional status Count As %
Researcher 10 19%
Student > Ph. D. Student 9 17%
Student > Master 8 15%
Student > Bachelor 7 13%
Student > Doctoral Student 5 9%
Other 12 22%
Unknown 3 6%
Readers by discipline Count As %
Medicine and Dentistry 24 44%
Biochemistry, Genetics and Molecular Biology 10 19%
Agricultural and Biological Sciences 7 13%
Social Sciences 2 4%
Psychology 2 4%
Other 6 11%
Unknown 3 6%

Attention Score in Context

This research output has an Altmetric Attention Score of 4. 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 July 2015.
All research outputs
#3,317,829
of 12,346,729 outputs
Outputs from European Journal of Human Genetics
#994
of 2,344 outputs
Outputs of similar age
#51,629
of 197,661 outputs
Outputs of similar age from European Journal of Human Genetics
#16
of 55 outputs
Altmetric has tracked 12,346,729 research outputs across all sources so far. This one has received more attention than most of these and is in the 72nd percentile.
So far Altmetric has tracked 2,344 research outputs from this source. They typically receive a little more attention than average, with a mean Attention Score of 7.4. This one has gotten more attention than average, scoring higher than 56% 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 197,661 tracked outputs that were published within six weeks on either side of this one in any source. This one has gotten more attention than average, scoring higher than 73% of its contemporaries.
We're also able to compare this research output to 55 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 70% of its contemporaries.