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POGZ truncating alleles cause syndromic intellectual disability

Overview of attention for article published in Genome Medicine, January 2016
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About this Attention Score

  • In the top 5% of all research outputs scored by Altmetric
  • Among the highest-scoring outputs from this source (#27 of 1,495)
  • High Attention Score compared to outputs of the same age (99th percentile)
  • High Attention Score compared to outputs of the same age and source (97th percentile)

Mentioned by

news
29 news outlets
twitter
9 X users
wikipedia
1 Wikipedia page
googleplus
1 Google+ user

Citations

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80 Dimensions

Readers on

mendeley
150 Mendeley
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Title
POGZ truncating alleles cause syndromic intellectual disability
Published in
Genome Medicine, January 2016
DOI 10.1186/s13073-015-0253-0
Pubmed ID
Authors

Janson White, Christine R. Beck, Tamar Harel, Jennifer E. Posey, Shalini N. Jhangiani, Sha Tang, Kelly D. Farwell, Zöe Powis, Nancy J. Mendelsohn, Janice A. Baker, Lynda Pollack, Kati J. Mason, Klaas J. Wierenga, Daniel K. Arrington, Melissa Hall, Apostolos Psychogios, Laura Fairbrother, Magdalena Walkiewicz, Richard E. Person, Zhiyv Niu, Jing Zhang, Jill A. Rosenfeld, Donna M. Muzny, Christine Eng, Arthur L. Beaudet, James R. Lupski, Eric Boerwinkle, Richard A. Gibbs, Yaping Yang, Fan Xia, V. Reid Sutton

Abstract

Large-scale cohort-based whole exome sequencing of individuals with neurodevelopmental disorders (NDDs) has identified numerous novel candidate disease genes; however, detailed phenotypic information is often lacking in such studies. De novo mutations in pogo transposable element with zinc finger domain (POGZ) have been identified in six independent and diverse cohorts of individuals with NDDs ranging from autism spectrum disorder to developmental delay. Whole exome sequencing was performed on five unrelated individuals. Sanger sequencing was used to validate variants and segregate mutations with the phenotype in available family members. We identified heterozygous truncating mutations in POGZ in five unrelated individuals, which were confirmed to be de novo or not present in available parental samples. Careful review of the phenotypes revealed shared features that included developmental delay, intellectual disability, hypotonia, behavioral abnormalities, and similar facial characteristics. Variable features included short stature, microcephaly, strabismus and hearing loss. While POGZ has been associated with neurodevelopmental disorders in large cohort studies, our data suggest that loss of function variants in POGZ lead to an identifiable syndrome of NDD with specific phenotypic traits. This study exemplifies the era of human reverse clinical genomics ushered in by large disease-directed cohort studies; first defining a new syndrome molecularly and, only subsequently, phenotypically.

X Demographics

X Demographics

The data shown below were collected from the profiles of 9 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 150 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
United Kingdom 1 <1%
Unknown 149 99%

Demographic breakdown

Readers by professional status Count As %
Researcher 24 16%
Student > Ph. D. Student 19 13%
Student > Master 18 12%
Student > Bachelor 16 11%
Student > Doctoral Student 12 8%
Other 27 18%
Unknown 34 23%
Readers by discipline Count As %
Biochemistry, Genetics and Molecular Biology 29 19%
Agricultural and Biological Sciences 20 13%
Medicine and Dentistry 16 11%
Psychology 12 8%
Neuroscience 8 5%
Other 17 11%
Unknown 48 32%
Attention Score in Context

Attention Score in Context

This research output has an Altmetric Attention Score of 238. 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 18 July 2019.
All research outputs
#146,138
of 24,164,942 outputs
Outputs from Genome Medicine
#27
of 1,495 outputs
Outputs of similar age
#2,479
of 402,400 outputs
Outputs of similar age from Genome Medicine
#2
of 42 outputs
Altmetric has tracked 24,164,942 research outputs across all sources so far. Compared to these this one has done particularly well and is in the 99th percentile: it's in the top 5% of all research outputs ever tracked by Altmetric.
So far Altmetric has tracked 1,495 research outputs from this source. They typically receive a lot more attention than average, with a mean Attention Score of 26.6. This one has done particularly well, scoring higher than 98% 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 402,400 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 99% of its contemporaries.
We're also able to compare this research output to 42 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 97% of its contemporaries.