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Exome Sequencing and Directed Clinical Phenotyping Diagnose Cholesterol Ester Storage Disease Presenting as Autosomal Recessive Hypercholesterolemia

Overview of attention for article published in Arteriosclerosis, Thrombosis, and Vascular Biology (Highwire), September 2013
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3 X users

Citations

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88 Dimensions

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109 Mendeley
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Title
Exome Sequencing and Directed Clinical Phenotyping Diagnose Cholesterol Ester Storage Disease Presenting as Autosomal Recessive Hypercholesterolemia
Published in
Arteriosclerosis, Thrombosis, and Vascular Biology (Highwire), September 2013
DOI 10.1161/atvbaha.113.302426
Pubmed ID
Authors

Nathan O. Stitziel, Sigrid W. Fouchier, Barbara Sjouke, Gina M. Peloso, Alessa M. Moscoso, Paul L. Auer, Anuj Goel, Bruna Gigante, Timothy A. Barnes, Olle Melander, Marju Orho-Melander, Stefano Duga, Suthesh Sivapalaratnam, Majid Nikpay, Nicola Martinelli, Domenico Girelli, Rebecca D. Jackson, Charles Kooperberg, Leslie A. Lange, Diego Ardissino, Ruth McPherson, Martin Farrall, Hugh Watkins, Muredach P. Reilly, Daniel J. Rader, Ulf de Faire, Heribert Schunkert, Jeanette Erdmann, Nilesh J. Samani, Lawrence Charnas, David Altshuler, Stacey Gabriel, John J.P. Kastelein, Joep C. Defesche, Aart J. Nederveen, Sekar Kathiresan, G. Kees Hovingh

Abstract

Autosomal recessive hypercholesterolemia is a rare inherited disorder, characterized by extremely high total and low-density lipoprotein cholesterol levels, that has been previously linked to mutations in LDLRAP1. We identified a family with autosomal recessive hypercholesterolemia not explained by mutations in LDLRAP1 or other genes known to cause monogenic hypercholesterolemia. The aim of this study was to identify the molecular pathogenesis of autosomal recessive hypercholesterolemia in this family.

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X Demographics

The data shown below were collected from the profiles of 3 X users who shared this research output. Click here to find out more about how the information was compiled.
Mendeley readers

Mendeley readers

The data shown below were compiled from readership statistics for 109 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Mexico 1 <1%
United States 1 <1%
Sweden 1 <1%
Unknown 106 97%

Demographic breakdown

Readers by professional status Count As %
Student > Ph. D. Student 22 20%
Researcher 22 20%
Other 13 12%
Student > Bachelor 8 7%
Student > Master 7 6%
Other 19 17%
Unknown 18 17%
Readers by discipline Count As %
Medicine and Dentistry 42 39%
Biochemistry, Genetics and Molecular Biology 17 16%
Agricultural and Biological Sciences 13 12%
Pharmacology, Toxicology and Pharmaceutical Science 3 3%
Immunology and Microbiology 2 2%
Other 8 7%
Unknown 24 22%
Attention Score in Context

Attention Score in Context

This research output has an Altmetric Attention Score of 2. 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 03 March 2017.
All research outputs
#16,048,318
of 25,374,917 outputs
Outputs from Arteriosclerosis, Thrombosis, and Vascular Biology (Highwire)
#4,621
of 6,064 outputs
Outputs of similar age
#123,484
of 215,408 outputs
Outputs of similar age from Arteriosclerosis, Thrombosis, and Vascular Biology (Highwire)
#24
of 52 outputs
Altmetric has tracked 25,374,917 research outputs across all sources so far. This one is in the 34th percentile – i.e., 34% of other outputs scored the same or lower than it.
So far Altmetric has tracked 6,064 research outputs from this source. They typically receive more attention than average, with a mean Attention Score of 8.3. This one is in the 21st percentile – i.e., 21% 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 215,408 tracked outputs that were published within six weeks on either side of this one in any source. This one is in the 40th percentile – i.e., 40% of its contemporaries scored the same or lower than it.
We're also able to compare this research output to 52 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 50% of its contemporaries.