↓ Skip to main content

Mutation analysis of 18 nephronophthisis associated ciliopathy disease genes using a DNA pooling and next generation sequencing strategy

Overview of attention for article published in Journal of Medical Genetics, November 2010
Altmetric Badge

About this Attention Score

  • In the top 25% of all research outputs scored by Altmetric
  • High Attention Score compared to outputs of the same age (92nd percentile)
  • High Attention Score compared to outputs of the same age and source (93rd percentile)

Mentioned by

blogs
2 blogs
patent
3 patents
wikipedia
1 Wikipedia page

Citations

dimensions_citation
122 Dimensions

Readers on

mendeley
116 Mendeley
You are seeing a free-to-access but limited selection of the activity Altmetric has collected about this research output. Click here to find out more.
Title
Mutation analysis of 18 nephronophthisis associated ciliopathy disease genes using a DNA pooling and next generation sequencing strategy
Published in
Journal of Medical Genetics, November 2010
DOI 10.1136/jmg.2010.082552
Pubmed ID
Authors

Edgar A Otto, Gokul Ramaswami, Sabine Janssen, Moumita Chaki, Susan J Allen, Weibin Zhou, Rannar Airik, Toby W Hurd, Amiya K Ghosh, Matthias T Wolf, Bernd Hoppe, Thomas J Neuhaus, Detlef Bockenhauer, David V Milford, Neveen A Soliman, Corinne Antignac, Sophie Saunier, Colin A Johnson, Friedhelm Hildebrandt, the GPN Study Group

Abstract

Nephronophthisis associated ciliopathies (NPHP-AC) comprise a group of autosomal recessive cystic kidney diseases that includes nephronophthisis (NPHP), Senior-Loken syndrome (SLS), Joubert syndrome (JBTS), and Meckel-Gruber syndrome (MKS). To date, causative mutations in NPHP-AC have been described for 18 different genes, rendering mutation analysis tedious and expensive. To overcome the broad genetic locus heterogeneity, a strategy of DNA pooling with consecutive massively parallel resequencing (MPR) was devised.

Mendeley readers

Mendeley readers

The data shown below were compiled from readership statistics for 116 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
United States 4 3%
Germany 2 2%
Czechia 1 <1%
Australia 1 <1%
Unknown 108 93%

Demographic breakdown

Readers by professional status Count As %
Researcher 31 27%
Student > Ph. D. Student 17 15%
Professor 8 7%
Professor > Associate Professor 7 6%
Student > Master 7 6%
Other 22 19%
Unknown 24 21%
Readers by discipline Count As %
Agricultural and Biological Sciences 37 32%
Medicine and Dentistry 23 20%
Biochemistry, Genetics and Molecular Biology 20 17%
Neuroscience 3 3%
Unspecified 1 <1%
Other 4 3%
Unknown 28 24%
Attention Score in Context

Attention Score in Context

This research output has an Altmetric Attention Score of 17. 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 08 September 2020.
All research outputs
#1,869,280
of 22,709,015 outputs
Outputs from Journal of Medical Genetics
#193
of 2,913 outputs
Outputs of similar age
#7,347
of 100,970 outputs
Outputs of similar age from Journal of Medical Genetics
#1
of 16 outputs
Altmetric has tracked 22,709,015 research outputs across all sources so far. Compared to these this one has done particularly well and is in the 91st percentile: it's in the top 10% of all research outputs ever tracked by Altmetric.
So far Altmetric has tracked 2,913 research outputs from this source. They typically receive a little more attention than average, with a mean Attention Score of 7.2. This one has done particularly well, scoring higher than 93% 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 100,970 tracked outputs that were published within six weeks on either side of this one in any source. This one has done particularly well, scoring higher than 92% of its contemporaries.
We're also able to compare this research output to 16 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 93% of its contemporaries.