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Molecular genetics of human primary microcephaly: an overview

Overview of attention for article published in BMC Medical Genomics, January 2015
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About this Attention Score

  • In the top 25% of all research outputs scored by Altmetric
  • Good Attention Score compared to outputs of the same age (78th percentile)
  • Good Attention Score compared to outputs of the same age and source (75th percentile)

Mentioned by

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4 X users
wikipedia
4 Wikipedia pages

Citations

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192 Dimensions

Readers on

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340 Mendeley
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Title
Molecular genetics of human primary microcephaly: an overview
Published in
BMC Medical Genomics, January 2015
DOI 10.1186/1755-8794-8-s1-s4
Pubmed ID
Authors

Muhammad Faheem, Muhammad Imran Naseer, Mahmood Rasool, Adeel G Chaudhary, Taha A Kumosani, Asad Muhammad Ilyas, Peter Natesan Pushparaj, Farid Ahmed, Hussain A Algahtani, Mohammad H Al-Qahtani, Hasan Saleh Jamal

Abstract

Autosomal recessive primary microcephaly (MCPH) is a neurodevelopmental disorder that is characterised by microcephaly present at birth and non-progressive mental retardation. Microcephaly is the outcome of a smaller but architecturally normal brain; the cerebral cortex exhibits a significant decrease in size. MCPH is a neurogenic mitotic disorder, though affected patients demonstrate normal neuronal migration, neuronal apoptosis and neural function. Twelve MCPH loci (MCPH1-MCPH12) have been mapped to date from various populations around the world and contain the following genes: Microcephalin, WDR62, CDK5RAP2, CASC5, ASPM, CENPJ, STIL, CEP135, CEP152, ZNF335, PHC1 and CDK6. It is predicted that MCPH gene mutations may lead to the disease phenotype due to a disturbed mitotic spindle orientation, premature chromosomal condensation, signalling response as a result of damaged DNA, microtubule dynamics, transcriptional control or a few other hidden centrosomal mechanisms that can regulate the number of neurons produced by neuronal precursor cells. Additional findings have further elucidated the microcephaly aetiology and pathophysiology, which has informed the clinical management of families suffering from MCPH. The provision of molecular diagnosis and genetic counselling may help to decrease the frequency of this disorder.

X Demographics

X Demographics

The data shown below were collected from the profiles of 4 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 340 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Portugal 1 <1%
Netherlands 1 <1%
France 1 <1%
Brazil 1 <1%
Nigeria 1 <1%
United States 1 <1%
Unknown 334 98%

Demographic breakdown

Readers by professional status Count As %
Student > Ph. D. Student 67 20%
Researcher 42 12%
Student > Bachelor 42 12%
Student > Master 41 12%
Student > Doctoral Student 23 7%
Other 58 17%
Unknown 67 20%
Readers by discipline Count As %
Biochemistry, Genetics and Molecular Biology 96 28%
Agricultural and Biological Sciences 61 18%
Medicine and Dentistry 54 16%
Neuroscience 25 7%
Chemistry 5 1%
Other 22 6%
Unknown 77 23%
Attention Score in Context

Attention Score in Context

This research output has an Altmetric Attention Score of 6. 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 March 2022.
All research outputs
#5,706,747
of 23,371,053 outputs
Outputs from BMC Medical Genomics
#256
of 1,256 outputs
Outputs of similar age
#81,496
of 383,148 outputs
Outputs of similar age from BMC Medical Genomics
#9
of 40 outputs
Altmetric has tracked 23,371,053 research outputs across all sources so far. Compared to these this one has done well and is in the 75th percentile: it's in the top 25% of all research outputs ever tracked by Altmetric.
So far Altmetric has tracked 1,256 research outputs from this source. They receive a mean Attention Score of 4.8. This one has done well, scoring higher than 79% 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 383,148 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 78% of its contemporaries.
We're also able to compare this research output to 40 others from the same source and published within six weeks on either side of this one. This one has done well, scoring higher than 75% of its contemporaries.