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De novo mutations in schizophrenia implicate synaptic networks

Overview of attention for article published in Nature, January 2014
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  • In the top 5% of all research outputs scored by Altmetric
  • High Attention Score compared to outputs of the same age (99th percentile)
  • High Attention Score compared to outputs of the same age and source (90th percentile)

Citations

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1456 Dimensions

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1648 Mendeley
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11 CiteULike
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Title
De novo mutations in schizophrenia implicate synaptic networks
Published in
Nature, January 2014
DOI 10.1038/nature12929
Pubmed ID
Authors

Menachem Fromer, Andrew J. Pocklington, David H. Kavanagh, Hywel J. Williams, Sarah Dwyer, Padhraig Gormley, Lyudmila Georgieva, Elliott Rees, Priit Palta, Douglas M. Ruderfer, Noa Carrera, Isla Humphreys, Jessica S. Johnson, Panos Roussos, Douglas D. Barker, Eric Banks, Vihra Milanova, Seth G. Grant, Eilis Hannon, Samuel A. Rose, Kimberly Chambert, Milind Mahajan, Edward M. Scolnick, Jennifer L. Moran, George Kirov, Aarno Palotie, Steven A. McCarroll, Peter Holmans, Pamela Sklar, Michael J. Owen, Shaun M. Purcell, Michael C. O’Donovan

Abstract

Inherited alleles account for most of the genetic risk for schizophrenia. However, new (de novo) mutations, in the form of large chromosomal copy number changes, occur in a small fraction of cases and disproportionally disrupt genes encoding postsynaptic proteins. Here we show that small de novo mutations, affecting one or a few nucleotides, are overrepresented among glutamatergic postsynaptic proteins comprising activity-regulated cytoskeleton-associated protein (ARC) and N-methyl-d-aspartate receptor (NMDAR) complexes. Mutations are additionally enriched in proteins that interact with these complexes to modulate synaptic strength, namely proteins regulating actin filament dynamics and those whose messenger RNAs are targets of fragile X mental retardation protein (FMRP). Genes affected by mutations in schizophrenia overlap those mutated in autism and intellectual disability, as do mutation-enriched synaptic pathways. Aligning our findings with a parallel case-control study, we demonstrate reproducible insights into aetiological mechanisms for schizophrenia and reveal pathophysiology shared with other neurodevelopmental disorders.

X Demographics

X Demographics

The data shown below were collected from the profiles of 132 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 1,648 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
United States 27 2%
United Kingdom 10 <1%
Spain 7 <1%
Germany 5 <1%
Italy 4 <1%
Netherlands 3 <1%
France 2 <1%
Sweden 2 <1%
Japan 2 <1%
Other 16 <1%
Unknown 1570 95%

Demographic breakdown

Readers by professional status Count As %
Student > Ph. D. Student 349 21%
Researcher 300 18%
Student > Bachelor 232 14%
Student > Master 160 10%
Student > Doctoral Student 83 5%
Other 317 19%
Unknown 207 13%
Readers by discipline Count As %
Agricultural and Biological Sciences 472 29%
Medicine and Dentistry 308 19%
Biochemistry, Genetics and Molecular Biology 226 14%
Neuroscience 213 13%
Psychology 65 4%
Other 111 7%
Unknown 253 15%
Attention Score in Context

Attention Score in Context

This research output has an Altmetric Attention Score of 327. 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 22 November 2022.
All research outputs
#102,360
of 25,443,857 outputs
Outputs from Nature
#7,054
of 97,973 outputs
Outputs of similar age
#861
of 321,222 outputs
Outputs of similar age from Nature
#84
of 899 outputs
Altmetric has tracked 25,443,857 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 97,973 research outputs from this source. They typically receive a lot more attention than average, with a mean Attention Score of 102.4. This one has done particularly well, scoring higher than 92% 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 321,222 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 899 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 90% of its contemporaries.