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Whole-exome sequencing in the molecular diagnosis of individuals with congenital anomalies of the kidney and urinary tract and identification of a new causative gene

Overview of attention for article published in Genetics in Medicine, September 2016
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Title
Whole-exome sequencing in the molecular diagnosis of individuals with congenital anomalies of the kidney and urinary tract and identification of a new causative gene
Published in
Genetics in Medicine, September 2016
DOI 10.1038/gim.2016.131
Pubmed ID
Authors

Mir Reza Bekheirnia, Nasim Bekheirnia, Matthew N. Bainbridge, Shen Gu, Zeynep Hande Coban Akdemir, Tomek Gambin, Nicolette K. Janzen, Shalini N. Jhangiani, Donna M. Muzny, Mini Michael, Eileen D. Brewer, Ewa Elenberg, Arundhati S. Kale, Alyssa A. Riley, Sarah J. Swartz, Daryl A. Scott, Yaping Yang, Poyyapakkam R. Srivaths, Scott E. Wenderfer, Joann Bodurtha, Carolyn D. Applegate, Milen Velinov, Angela Myers, Lior Borovik, William J. Craigen, Neil A. Hanchard, Jill A. Rosenfeld, Richard Alan Lewis, Edmond T. Gonzales, Richard A. Gibbs, John W. Belmont, David R. Roth, Christine Eng, Michael C. Braun, James R. Lupski, Dolores J. Lamb

Abstract

To investigate the utility of whole-exome sequencing (WES) to define a molecular diagnosis for patients clinically diagnosed with congenital anomalies of kidney and urinary tract (CAKUT). WES was performed in 62 families with CAKUT. WES data were analyzed for single-nucleotide variants (SNVs) in 35 known CAKUT genes, putatively deleterious sequence changes in new candidate genes, and potentially disease-associated copy-number variants (CNVs). In approximately 5% of families, pathogenic SNVs were identified in PAX2, HNF1B, and EYA1. Observed phenotypes in these families expand the current understanding about the role of these genes in CAKUT. Four pathogenic CNVs were also identified using two CNV detection tools. In addition, we found one deleterious de novo SNV in FOXP1 among the 62 families with CAKUT. The clinical database of the Baylor Miraca Genetics laboratory was queried and seven additional unrelated individuals with novel de novo SNVs in FOXP1 were identified. Six of these eight individuals with FOXP1 SNVs have syndromic urinary tract defects, implicating this gene in urinary tract development. We conclude that WES can be used to identify molecular etiology (SNVs, CNVs) in a subset of individuals with CAKUT. WES can also help identify novel CAKUT genes.Genet Med advance online publication 22 September 2016Genetics in Medicine (2016); doi:10.1038/gim.2016.131.

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Mendeley readers

Mendeley readers

The data shown below were compiled from readership statistics for 91 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Sweden 1 1%
Unknown 90 99%

Demographic breakdown

Readers by professional status Count As %
Researcher 14 15%
Other 11 12%
Student > Ph. D. Student 9 10%
Student > Bachelor 9 10%
Professor > Associate Professor 7 8%
Other 22 24%
Unknown 19 21%
Readers by discipline Count As %
Medicine and Dentistry 27 30%
Biochemistry, Genetics and Molecular Biology 20 22%
Agricultural and Biological Sciences 11 12%
Computer Science 3 3%
Unspecified 2 2%
Other 5 5%
Unknown 23 25%
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 14 October 2016.
All research outputs
#15,168,964
of 25,373,627 outputs
Outputs from Genetics in Medicine
#2,420
of 2,943 outputs
Outputs of similar age
#180,749
of 328,637 outputs
Outputs of similar age from Genetics in Medicine
#48
of 58 outputs
Altmetric has tracked 25,373,627 research outputs across all sources so far. This one is in the 38th percentile – i.e., 38% of other outputs scored the same or lower than it.
So far Altmetric has tracked 2,943 research outputs from this source. They typically receive a lot more attention than average, with a mean Attention Score of 19.0. This one is in the 16th percentile – i.e., 16% 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 328,637 tracked outputs that were published within six weeks on either side of this one in any source. This one is in the 43rd percentile – i.e., 43% of its contemporaries scored the same or lower than it.
We're also able to compare this research output to 58 others from the same source and published within six weeks on either side of this one. This one is in the 17th percentile – i.e., 17% of its contemporaries scored the same or lower than it.