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Mendeley readers
Attention Score in Context
| Title |
De novo 325 kb microdeletion in chromosome band 10q25.3 including ATRNL1 in a boy with cognitive impairment, autism and dysmorphic features
|
|---|---|
| Published in |
European Journal of Medical Genetics, July 2010
|
| DOI | 10.1016/j.ejmg.2010.07.009 |
| Pubmed ID | |
| Authors |
Zornitza Stark, Damien L. Bruno, Hayley Mountford, Paul J. Lockhart, David J. Amor |
| Abstract |
We provide the first description of a patient with a heterozygous deletion of the Attractin-like (ATRNL1) gene. The patient presented with a novel and distinctive phenotype comprising dysmorphic facial appearance, ventricular septal defect, toe syndactyly, radioulnar synostosis, postnatal growth retardation, cognitive impairment with autistic features, and ataxia. A 325 kb de novo deletion in ATRNL1 was demonstrated using SNP microarray and confirmed by FISH analysis using BAC probes. Sequence analysis of the undeleted allele did not identify any alterations, suggesting that the phenotype was the result of haploinusfficiency. ATRNL1 and its paralog ATRN are highly conserved transmembrane proteins thought to be involved in cell adhesion and signalling events. The phenotype of mice with homozygous Atrn mutations overlaps considerably with the features observed in our patient. We therefore postulate that our patient's phenotype is caused by the deletion of ATRNL1, and provide further insight into the role of ATRNL1 in human development. |
Mendeley readers
The data shown below were compiled from readership statistics for 44 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Italy | 1 | 2% |
| Unknown | 43 | 98% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Student > Bachelor | 9 | 20% |
| Student > Master | 8 | 18% |
| Researcher | 7 | 16% |
| Student > Ph. D. Student | 4 | 9% |
| Librarian | 3 | 7% |
| Other | 6 | 14% |
| Unknown | 7 | 16% |
| Readers by discipline | Count | As % |
|---|---|---|
| Medicine and Dentistry | 11 | 25% |
| Biochemistry, Genetics and Molecular Biology | 5 | 11% |
| Agricultural and Biological Sciences | 5 | 11% |
| Arts and Humanities | 3 | 7% |
| Psychology | 2 | 5% |
| Other | 7 | 16% |
| Unknown | 11 | 25% |
Attention Score in Context
This research output has an Altmetric Attention Score of 3. 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 27 February 2024.
All research outputs
#8,534,976
of 25,374,647 outputs
Outputs from European Journal of Medical Genetics
#237
of 1,078 outputs
Outputs of similar age
#37,934
of 103,601 outputs
Outputs of similar age from European Journal of Medical Genetics
#2
of 9 outputs
Altmetric has tracked 25,374,647 research outputs across all sources so far. This one is in the 43rd percentile – i.e., 43% of other outputs scored the same or lower than it.
So far Altmetric has tracked 1,078 research outputs from this source. They receive a mean Attention Score of 3.1. This one has gotten more attention than average, scoring higher than 64% 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 103,601 tracked outputs that were published within six weeks on either side of this one in any source. This one is in the 22nd percentile – i.e., 22% 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 7 of them.