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X Demographics
Mendeley readers
Attention Score in Context
| Title |
Mutations in SPECC1L, encoding sperm antigen with calponin homology and coiled-coil domains 1-like, are found in some cases of autosomal dominant Opitz G/BBB syndrome
|
|---|---|
| Published in |
Journal of Medical Genetics, November 2014
|
| DOI | 10.1136/jmedgenet-2014-102677 |
| Pubmed ID | |
| Authors |
Paul Kruszka, Dong Li, Margaret H Harr, Nathan R Wilson, Daniel Swarr, Elizabeth M McCormick, Rosetta M Chiavacci, Mindy Li, Ariel F Martinez, Rachel A Hart, Donna M McDonald-McGinn, Matthew A Deardorff, Marni J Falk, Judith E Allanson, Cindy Hudson, John P Johnson, Irfan Saadi, Hakon Hakonarson, Maximilian Muenke, Elaine H Zackai |
| Abstract |
Opitz G/BBB syndrome is a heterogeneous disorder characterised by variable expression of midline defects including cleft lip and palate, hypertelorism, laryngealtracheoesophageal anomalies, congenital heart defects, and hypospadias. The X-linked form of the condition has been associated with mutations in the MID1 gene on Xp22. The autosomal dominant form has been linked to chromosome 22q11.2, although the causative gene has yet to be elucidated. |
X Demographics
The data shown below were collected from the profile of 1 X user who shared this research output. Click here to find out more about how the information was compiled.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Unknown | 1 | 100% |
Demographic breakdown
| Type | Count | As % |
|---|---|---|
| Members of the public | 1 | 100% |
Mendeley readers
The data shown below were compiled from readership statistics for 56 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Spain | 1 | 2% |
| Saudi Arabia | 1 | 2% |
| Unknown | 54 | 96% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Other | 6 | 11% |
| Student > Ph. D. Student | 6 | 11% |
| Researcher | 6 | 11% |
| Student > Bachelor | 4 | 7% |
| Student > Doctoral Student | 3 | 5% |
| Other | 12 | 21% |
| Unknown | 19 | 34% |
| Readers by discipline | Count | As % |
|---|---|---|
| Medicine and Dentistry | 17 | 30% |
| Agricultural and Biological Sciences | 8 | 14% |
| Biochemistry, Genetics and Molecular Biology | 4 | 7% |
| Engineering | 2 | 4% |
| Chemistry | 1 | 2% |
| Other | 3 | 5% |
| Unknown | 21 | 38% |
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 04 May 2023.
All research outputs
#7,946,070
of 24,598,501 outputs
Outputs from Journal of Medical Genetics
#1,549
of 3,052 outputs
Outputs of similar age
#106,992
of 372,716 outputs
Outputs of similar age from Journal of Medical Genetics
#21
of 24 outputs
Altmetric has tracked 24,598,501 research outputs across all sources so far. This one has received more attention than most of these and is in the 67th percentile.
So far Altmetric has tracked 3,052 research outputs from this source. They typically receive more attention than average, with a mean Attention Score of 7.6. This one is in the 48th percentile – i.e., 48% 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 372,716 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 70% of its contemporaries.
We're also able to compare this research output to 24 others from the same source and published within six weeks on either side of this one. This one is in the 16th percentile – i.e., 16% of its contemporaries scored the same or lower than it.