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Whole exome sequencing reveals de novo pathogenic variants in KAT6A as a cause of a neurodevelopmental disorder

Overview of attention for article published in American Journal of Medical Genetics. Part A, May 2016
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  • In the top 25% of all research outputs scored by Altmetric
  • High Attention Score compared to outputs of the same age (84th percentile)
  • High Attention Score compared to outputs of the same age and source (83rd percentile)

Mentioned by

news
1 news outlet
twitter
3 tweeters

Citations

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27 Dimensions

Readers on

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22 Mendeley
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Title
Whole exome sequencing reveals de novo pathogenic variants in KAT6A as a cause of a neurodevelopmental disorder
Published in
American Journal of Medical Genetics. Part A, May 2016
DOI 10.1002/ajmg.a.37670
Pubmed ID
Authors

Millan, Francisca, Cho, Megan T., Retterer, Kyle, Monaghan, Kristin G., Bai, Renkui, Vitazka, Patrik, Everman, David B., Smith, Brooke, Angle, Brad, Roberts, Victoria, Immken, LaDonna, Nagakura, Honey, DiFazio, Marc, Sherr, Elliott, Haverfield, Eden, Friedman, Bethany, Telegrafi, Aida, Juusola, Jane, Chung, Wendy K., Bale, Sherri, Cho, Megan T, Monaghan, Kristin G, Everman, David B, Chung, Wendy K

Abstract

Neurodevelopmental disorders (NDD) are common, with 1-3% of general population being affected, but the etiology is unknown in most individuals. Clinical whole-exome sequencing (WES) has proven to be a powerful tool for the identification of pathogenic variants leading to Mendelian disorders, among which NDD represent a significant percentage. Performing WES with a trio-approach has proven to be extremely effective in identifying de novo pathogenic variants as a common cause of NDD. Here we report six unrelated individuals with a common phenotype consisting of NDD with severe speech delay, hypotonia, and facial dysmorphism. These patients underwent WES with a trio approach and de novo heterozygous predicted pathogenic novel variants in the KAT6A gene were identified. The KAT6A gene encodes a histone acetyltransfrease protein and it has long been known for its structural involvement in acute myeloid leukemia; however, it has not previously been associated with any congenital disorder. In animal models the KAT6A ortholog is involved in transcriptional regulation during development. Given the similar findings in animal models and our patient's phenotypes, we hypothesize that KAT6A could play a role in development of the brain, face, and heart in humans. © 2016 Wiley Periodicals, Inc.

Twitter Demographics

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

Mendeley readers

The data shown below were compiled from readership statistics for 22 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Unknown 22 100%

Demographic breakdown

Readers by professional status Count As %
Researcher 6 27%
Student > Ph. D. Student 5 23%
Student > Postgraduate 3 14%
Student > Master 2 9%
Professor > Associate Professor 2 9%
Other 2 9%
Unknown 2 9%
Readers by discipline Count As %
Medicine and Dentistry 6 27%
Biochemistry, Genetics and Molecular Biology 5 23%
Agricultural and Biological Sciences 3 14%
Neuroscience 3 14%
Psychology 2 9%
Other 1 5%
Unknown 2 9%

Attention Score in Context

This research output has an Altmetric Attention Score of 11. 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 May 2016.
All research outputs
#1,919,418
of 16,534,657 outputs
Outputs from American Journal of Medical Genetics. Part A
#142
of 3,075 outputs
Outputs of similar age
#39,852
of 266,640 outputs
Outputs of similar age from American Journal of Medical Genetics. Part A
#13
of 99 outputs
Altmetric has tracked 16,534,657 research outputs across all sources so far. Compared to these this one has done well and is in the 88th percentile: it's in the top 25% of all research outputs ever tracked by Altmetric.
So far Altmetric has tracked 3,075 research outputs from this source. They receive a mean Attention Score of 3.9. This one has done particularly well, scoring higher than 94% 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 266,640 tracked outputs that were published within six weeks on either side of this one in any source. This one has done well, scoring higher than 84% of its contemporaries.
We're also able to compare this research output to 99 others from the same source and published within six weeks on either side of this one. This one has done well, scoring higher than 83% of its contemporaries.