| Title |
Atypical case of Wolfram syndrome revealed through targeted exome sequencing in a patient with suspected mitochondrial disease
|
|---|---|
| Published in |
BMC Medical Genomics, January 2012
|
| DOI | 10.1186/1471-2350-13-3 |
| Pubmed ID | |
| Authors |
Daniel S Lieber, Scott B Vafai, Laura C Horton, Nancy G Slate, Shangtao Liu, Mark L Borowsky, Sarah E Calvo, Jeremy D Schmahmann, Vamsi K Mootha |
| Abstract |
Mitochondrial diseases comprise a diverse set of clinical disorders that affect multiple organ systems with varying severity and age of onset. Due to their clinical and genetic heterogeneity, these diseases are difficult to diagnose. We have developed a targeted exome sequencing approach to improve our ability to properly diagnose mitochondrial diseases and apply it here to an individual patient. Our method targets mitochondrial DNA (mtDNA) and the exons of 1,600 nuclear genes involved in mitochondrial biology or Mendelian disorders with multi-system phenotypes, thereby allowing for simultaneous evaluation of multiple disease loci. |
X Demographics
The data shown below were collected from the profiles of 4 X users who shared this research output. Click here to find out more about how the information was compiled.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Germany | 1 | 25% |
| Unknown | 3 | 75% |
Demographic breakdown
| Type | Count | As % |
|---|---|---|
| Members of the public | 3 | 75% |
| Scientists | 1 | 25% |
Mendeley readers
The data shown below were compiled from readership statistics for 66 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| United Kingdom | 1 | 2% |
| Japan | 1 | 2% |
| Spain | 1 | 2% |
| Unknown | 63 | 95% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Researcher | 19 | 29% |
| Student > Bachelor | 9 | 14% |
| Student > Master | 8 | 12% |
| Professor | 5 | 8% |
| Student > Ph. D. Student | 5 | 8% |
| Other | 12 | 18% |
| Unknown | 8 | 12% |
| Readers by discipline | Count | As % |
|---|---|---|
| Medicine and Dentistry | 15 | 23% |
| Biochemistry, Genetics and Molecular Biology | 13 | 20% |
| Agricultural and Biological Sciences | 11 | 17% |
| Neuroscience | 5 | 8% |
| Nursing and Health Professions | 3 | 5% |
| Other | 8 | 12% |
| Unknown | 11 | 17% |
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 07 April 2012.
All research outputs
#8,534,976
of 25,374,647 outputs
Outputs from BMC Medical Genomics
#637
of 2,444 outputs
Outputs of similar age
#72,622
of 246,786 outputs
Outputs of similar age from BMC Medical Genomics
#11
of 33 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 2,444 research outputs from this source. They receive a mean Attention Score of 4.4. This one has gotten more attention than average, scoring higher than 65% 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 246,786 tracked outputs that were published within six weeks on either side of this one in any source. This one is in the 39th percentile – i.e., 39% of its contemporaries scored the same or lower than it.
We're also able to compare this research output to 33 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 54% of its contemporaries.