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NRXN1 deletion syndrome; phenotypic and penetrance data from 34 families

Overview of attention for article published in European Journal of Medical Genetics, July 2018
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  • High Attention Score compared to outputs of the same age and source (90th percentile)

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Title
NRXN1 deletion syndrome; phenotypic and penetrance data from 34 families
Published in
European Journal of Medical Genetics, July 2018
DOI 10.1016/j.ejmg.2018.07.015
Pubmed ID
Authors

Maryam Al Shehhi, Eva B Forman, Jacqueline E Fitzgerald, Veronica McInerney, Janusz Krawczyk, Sanbing Shen, David R Betts, Linda Mc Ardle, Kathleen M Gorman, Mary D King, Andrew Green, Louise Gallagher, Sally A Lynch

Abstract

The spectrum of phenotypes associated with heterozygous deletions of neurexin-1 (NRXN1) is diverse and includes: autism spectrum disorder, attention deficit hyperactivity disorder, intellectual disability, seizures, schizophrenia, mood disorders and congenital malformations. Reduced penetrance and variable expressivity of deletions in this gene remain a challenge for genetic counselling. We clinically reviewed 67 NRXN1 deletions from 34 families to document the phenotype and determine odds ratio. Thirty-four probands (5 adults, 29 children (<16 years)) were initially identified from a cohort clinically referred for arrayCGH. A further 33 NRXN1 deletions (16 with established phenotype) from the families were identified following cascade screening. Speech and language delay was a consistent clinical presentation. Pedigree analysis of the inherited group revealed numerous untested relatives with a history of mental health and developmental issues, most notably in the NRXN1β isoform patients. Our study highlights the complex nature of the NRXN1 phenotype in this population.

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Mendeley readers

Mendeley readers

The data shown below were compiled from readership statistics for 117 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Unknown 117 100%

Demographic breakdown

Readers by professional status Count As %
Student > Bachelor 21 18%
Student > Master 15 13%
Researcher 13 11%
Student > Ph. D. Student 11 9%
Student > Doctoral Student 9 8%
Other 15 13%
Unknown 33 28%
Readers by discipline Count As %
Medicine and Dentistry 18 15%
Biochemistry, Genetics and Molecular Biology 16 14%
Neuroscience 13 11%
Psychology 10 9%
Social Sciences 6 5%
Other 12 10%
Unknown 42 36%
Attention Score in Context

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 28 July 2018.
All research outputs
#7,050,597
of 25,385,509 outputs
Outputs from European Journal of Medical Genetics
#152
of 1,078 outputs
Outputs of similar age
#112,875
of 340,475 outputs
Outputs of similar age from European Journal of Medical Genetics
#3
of 41 outputs
Altmetric has tracked 25,385,509 research outputs across all sources so far. This one has received more attention than most of these and is in the 71st percentile.
So far Altmetric has tracked 1,078 research outputs from this source. They receive a mean Attention Score of 3.1. This one has done well, scoring higher than 85% 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 340,475 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 66% of its contemporaries.
We're also able to compare this research output to 41 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 90% of its contemporaries.