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Molecular and clinical characterization of 25 individuals with exonic deletions ofNRXN1and comprehensive review of the literature

Overview of attention for article published in American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics: The Official Publication of the International Society of Psychiatric Genetics, March 2013
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  • In the top 25% of all research outputs scored by Altmetric
  • Good Attention Score compared to outputs of the same age (76th percentile)
  • High Attention Score compared to outputs of the same age and source (88th percentile)

Mentioned by

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1 policy source
twitter
3 tweeters

Citations

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63 Dimensions

Readers on

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73 Mendeley
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Title
Molecular and clinical characterization of 25 individuals with exonic deletions ofNRXN1and comprehensive review of the literature
Published in
American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics: The Official Publication of the International Society of Psychiatric Genetics, March 2013
DOI 10.1002/ajmg.b.32148
Pubmed ID
Authors

Frédérique Béna, Damien L. Bruno, Mats Eriksson, Conny van Ravenswaaij-Arts, Zornitza Stark, Trijnie Dijkhuizen, Erica Gerkes, Stefania Gimelli, Devika Ganesamoorthy, Ann Charlotte Thuresson, Audrey Labalme, Marianne Till, Frédéric Bilan, Laurent Pasquier, Alain Kitzis, Christele Dubourgm, Massimiliano Rossi, Armand Bottani, Maryline Gagnebin, Damien Sanlaville, Brigitte Gilbert-Dussardier, Michel Guipponi, Arie van Haeringen, Marjolein Kriek, Claudia Ruivenkamp, Stylianos E. Antonarakis, Britt Marie Anderlid, Howard R. Slater, Jacqueline Schoumans

Abstract

This study aimed to elucidate the observed variable phenotypic expressivity associated with NRXN1 (Neurexin 1) haploinsufficiency by analyses of the largest cohort of patients with NRXN1 exonic deletions described to date and by comprehensively reviewing all comparable copy number variants in all disease cohorts that have been published in the peer reviewed literature (30 separate papers in all). Assessment of the clinical details in 25 previously undescribed individuals with NRXN1 exonic deletions demonstrated recurrent phenotypic features consisting of moderate to severe intellectual disability (91%), severe language delay (81%), autism spectrum disorder (65%), seizures (43%), and hypotonia (38%). These showed considerable overlap with previously reported NRXN1-deletion associated phenotypes in terms of both spectrum and frequency. However, we did not find evidence for an association between deletions involving the β-isoform of neurexin-1 and increased head size, as was recently published in four cases with a deletion involving the C-terminus of NRXN1. We identified additional rare copy number variants in 20% of cases. This study supports a pathogenic role for heterozygous exonic deletions of NRXN1 in neurodevelopmental disorders. The additional rare copy number variants identified may act as possible phenotypic modifiers as suggested in a recent digenic model of neurodevelopmental disorders.

Twitter Demographics

The data shown below were collected from the profiles of 3 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 73 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Italy 2 3%
Iceland 1 1%
Russia 1 1%
Unknown 69 95%

Demographic breakdown

Readers by professional status Count As %
Student > Ph. D. Student 18 25%
Researcher 14 19%
Student > Master 9 12%
Professor 6 8%
Unspecified 6 8%
Other 20 27%
Readers by discipline Count As %
Agricultural and Biological Sciences 24 33%
Medicine and Dentistry 16 22%
Neuroscience 10 14%
Unspecified 9 12%
Biochemistry, Genetics and Molecular Biology 6 8%
Other 8 11%

Attention Score in Context

This research output has an Altmetric Attention Score of 5. 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 January 2016.
All research outputs
#3,098,427
of 12,480,907 outputs
Outputs from American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics: The Official Publication of the International Society of Psychiatric Genetics
#190
of 828 outputs
Outputs of similar age
#55,257
of 239,340 outputs
Outputs of similar age from American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics: The Official Publication of the International Society of Psychiatric Genetics
#2
of 17 outputs
Altmetric has tracked 12,480,907 research outputs across all sources so far. Compared to these this one has done well and is in the 75th percentile: it's in the top 25% of all research outputs ever tracked by Altmetric.
So far Altmetric has tracked 828 research outputs from this source. They receive a mean Attention Score of 4.5. This one has done well, scoring higher than 76% 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 239,340 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 76% of its contemporaries.
We're also able to compare this research output to 17 others from the same source and published within six weeks on either side of this one. This one has done well, scoring higher than 88% of its contemporaries.