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Novel COL4A1 mutation in a fetus with early prenatal onset of schizencephaly

Overview of attention for article published in Human Genome Variation, April 2018
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Title
Novel COL4A1 mutation in a fetus with early prenatal onset of schizencephaly
Published in
Human Genome Variation, April 2018
DOI 10.1038/s41439-018-0005-y
Pubmed ID
Authors

Yota Sato, Jun Shibasaki, Noriko Aida, Kazuya Hiiragi, Yuichi Kimura, Moe Akahira-Azuma, Yumi Enomoto, Yoshinori Tsurusaki, Kenji Kurosawa

Abstract

Porencephaly and schizencephaly are congenital brain disorders that can be caused by COL4A1 mutations, though the underlying mechanism and developmental processes are poorly understood. Here, we report a patient with schizencephaly, detected by fetal ultrasonography and fetal magnetic resonance imaging, with a de novo novel mutation in COL4A1 (c.2645_2646delinsAA, p.Gly882Glu). Our results suggest that the onset of damage that potentially results in schizencephaly occurs mid-pregnancy.

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Mendeley readers

Mendeley readers

The data shown below were compiled from readership statistics for 24 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Unknown 24 100%

Demographic breakdown

Readers by professional status Count As %
Student > Ph. D. Student 4 17%
Other 3 13%
Student > Bachelor 3 13%
Student > Doctoral Student 1 4%
Professor 1 4%
Other 3 13%
Unknown 9 38%
Readers by discipline Count As %
Neuroscience 6 25%
Medicine and Dentistry 5 21%
Biochemistry, Genetics and Molecular Biology 1 4%
Economics, Econometrics and Finance 1 4%
Unspecified 1 4%
Other 0 0%
Unknown 10 42%
Attention Score in Context

Attention Score in Context

This research output has an Altmetric Attention Score of 1. 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 24 April 2018.
All research outputs
#20,483,282
of 23,045,021 outputs
Outputs from Human Genome Variation
#165
of 197 outputs
Outputs of similar age
#287,530
of 326,481 outputs
Outputs of similar age from Human Genome Variation
#10
of 11 outputs
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So far Altmetric has tracked 197 research outputs from this source. They receive a mean Attention Score of 2.9. This one is in the 1st percentile – i.e., 1% of its peers scored the same or lower than it.
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We're also able to compare this research output to 11 others from the same source and published within six weeks on either side of this one. This one is in the 1st percentile – i.e., 1% of its contemporaries scored the same or lower than it.