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Next generation sequencing in a large cohort of patients presenting with neuromuscular disease before or at birth

Overview of attention for article published in Orphanet Journal of Rare Diseases, November 2015
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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 (96th percentile)
  • High Attention Score compared to outputs of the same age and source (98th percentile)

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4 news outlets
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1 blog
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21 X users
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1 Facebook page

Citations

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98 Dimensions

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98 Mendeley
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Title
Next generation sequencing in a large cohort of patients presenting with neuromuscular disease before or at birth
Published in
Orphanet Journal of Rare Diseases, November 2015
DOI 10.1186/s13023-015-0364-0
Pubmed ID
Authors

Emily J. Todd, Kyle S. Yau, Royston Ong, Jennie Slee, George McGillivray, Christopher P. Barnett, Goknur Haliloglu, Beril Talim, Zuhal Akcoren, Ariana Kariminejad, Anita Cairns, Nigel F. Clarke, Mary-Louise Freckmann, Norma B. Romero, Denise Williams, Caroline A Sewry, Alison Colley, Monique M. Ryan, Cathy Kiraly-Borri, Padma Sivadorai, Richard J.N. Allcock, David Beeson, Susan Maxwell, Mark R. Davis, Nigel G. Laing, Gianina Ravenscroft

Abstract

Fetal akinesia/hypokinesia, arthrogryposis and severe congenital myopathies are heterogeneous conditions usually presenting before or at birth. Although numerous causative genes have been identified for each of these disease groups, in many cases a specific genetic diagnosis remains elusive. Due to the emergence of next generation sequencing, virtually the entire coding region of an individual's DNA can now be analysed through "whole" exome sequencing, enabling almost all known and novel disease genes to be investigated for disorders such as these. Genomic DNA samples from 45 patients with fetal akinesia/hypokinesia, arthrogryposis or severe congenital myopathies from 38 unrelated families were subjected to next generation sequencing. Clinical features and diagnoses for each patient were supplied by referring clinicians. Genomic DNA was used for either whole exome sequencing or a custom-designed neuromuscular sub-exomic supercapture array containing 277 genes responsible for various neuromuscular diseases. Candidate disease-causing variants were investigated and confirmed using Sanger sequencing. Some of the cases within this cohort study have been published previously as separate studies. A conclusive genetic diagnosis was achieved for 18 of the 38 families. Within this cohort, mutations were found in eight previously known neuromuscular disease genes (CHRND, CHNRG, ECEL1, GBE1, MTM1, MYH3, NEB and RYR1) and four novel neuromuscular disease genes were identified and have been published as separate reports (GPR126, KLHL40, KLHL41 and SPEG). In addition, novel mutations were identified in CHRND, KLHL40, NEB and RYR1. Autosomal dominant, autosomal recessive, X-linked, and de novo modes of inheritance were observed. By using next generation sequencing on a cohort of 38 unrelated families with fetal akinesia/hypokinesia, arthrogryposis, or severe congenital myopathy we therefore obtained a genetic diagnosis for 47 % of families. This study highlights the power and capacity of next generation sequencing (i) to determine the aetiology of genetically heterogeneous neuromuscular diseases, (ii) to identify novel disease genes in small pedigrees or isolated cases and (iii) to refine the interplay between genetic diagnosis and clinical evaluation and management.

X Demographics

X Demographics

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Mendeley readers

Mendeley readers

The data shown below were compiled from readership statistics for 98 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Italy 1 1%
Australia 1 1%
Egypt 1 1%
Unknown 95 97%

Demographic breakdown

Readers by professional status Count As %
Researcher 17 17%
Other 11 11%
Student > Bachelor 11 11%
Student > Ph. D. Student 10 10%
Student > Doctoral Student 9 9%
Other 19 19%
Unknown 21 21%
Readers by discipline Count As %
Medicine and Dentistry 33 34%
Biochemistry, Genetics and Molecular Biology 22 22%
Agricultural and Biological Sciences 6 6%
Neuroscience 4 4%
Arts and Humanities 1 1%
Other 5 5%
Unknown 27 28%
Attention Score in Context

Attention Score in Context

This research output has an Altmetric Attention Score of 46. 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 16 June 2022.
All research outputs
#882,307
of 24,878,531 outputs
Outputs from Orphanet Journal of Rare Diseases
#78
of 2,991 outputs
Outputs of similar age
#14,931
of 397,879 outputs
Outputs of similar age from Orphanet Journal of Rare Diseases
#2
of 78 outputs
Altmetric has tracked 24,878,531 research outputs across all sources so far. Compared to these this one has done particularly well and is in the 96th percentile: it's in the top 5% of all research outputs ever tracked by Altmetric.
So far Altmetric has tracked 2,991 research outputs from this source. They typically receive more attention than average, with a mean Attention Score of 8.1. This one has done particularly well, scoring higher than 97% 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 397,879 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 96% of its contemporaries.
We're also able to compare this research output to 78 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 98% of its contemporaries.