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An example of the utility of genomic analysis for fast and accurate clinical diagnosis of complex rare phenotypes

Overview of attention for article published in Orphanet Journal of Rare Diseases, February 2017
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About this Attention Score

  • Above-average Attention Score compared to outputs of the same age (55th percentile)
  • Above-average Attention Score compared to outputs of the same age and source (59th percentile)

Mentioned by

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4 tweeters

Citations

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10 Dimensions

Readers on

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29 Mendeley
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Title
An example of the utility of genomic analysis for fast and accurate clinical diagnosis of complex rare phenotypes
Published in
Orphanet Journal of Rare Diseases, February 2017
DOI 10.1186/s13023-017-0582-8
Pubmed ID
Authors

Polona Le Quesne Stabej, Chela James, Louise Ocaka, Mehmet Tekman, Stephanie Grunewald, Emma Clement, Horia C. Stanescu, Robert Kleta, Deborah Morrogh, Alistair Calder, Hywel J. Williams, Maria Bitner-Glindzicz, Le Quesne Stabej, P, James, C, Ocaka, L, Tekman, M, Grunewald, S, Clement, E, Stanescu, HC, Kleta, R, Morrogh, D, Calder, A, Williams, HJ, Bitner-Glindzicz, M

Abstract

We describe molecular diagnosis in a complex consanguineous family: four offspring presented with combinations of three distinctive phenotypes; non-syndromic hearing loss (NSHL), an unusual skeletal phenotype comprising multiple fractures, cranial abnormalities and diaphyseal expansion, and significant developmental delay with microcephaly. We performed Chromosomal Microarray Analysis on the offspring with either the skeletal or developmental delay phenotypes, and linkage analysis and whole exome sequencing (WES) on all four children, parents and maternal aunt. Chromosomal microarray and FISH analysis identified a de novo unbalanced translocation as a cause of the microcephaly and severe developmental delay. WES identified a NSHL-causing splice variant in an autosomal recessive deafness gene PDZD7 which resided in a linkage region and affected three of the children. In the two children diagnosed with an unusual skeletal phenotype, WES eventually disclosed a heterozygous COL1A1 variant which affects C-propetide cleavage site of COL1. The variant was inherited from an apparently unaffected mosaic father in an autosomal dominant fashion. After the discovery of the COL1A1 variant, the skeletal phenotype was diagnosed as a high bone mass form of osteogenesis imperfecta. Next generation sequencing offers an unbiased approach to molecular genetic diagnosis in highly heterogeneous and poorly characterised disorders and enables early diagnosis as well as detection of mosaicism.

Twitter Demographics

The data shown below were collected from the profiles of 4 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 29 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Unknown 29 100%

Demographic breakdown

Readers by professional status Count As %
Researcher 5 17%
Student > Doctoral Student 4 14%
Student > Master 3 10%
Student > Bachelor 2 7%
Other 1 3%
Other 5 17%
Unknown 9 31%
Readers by discipline Count As %
Psychology 6 21%
Medicine and Dentistry 4 14%
Biochemistry, Genetics and Molecular Biology 3 10%
Nursing and Health Professions 3 10%
Unspecified 1 3%
Other 2 7%
Unknown 10 34%

Attention Score in Context

This research output has an Altmetric Attention Score of 2. 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 14 February 2017.
All research outputs
#4,009,022
of 9,064,896 outputs
Outputs from Orphanet Journal of Rare Diseases
#579
of 1,184 outputs
Outputs of similar age
#132,088
of 310,829 outputs
Outputs of similar age from Orphanet Journal of Rare Diseases
#23
of 59 outputs
Altmetric has tracked 9,064,896 research outputs across all sources so far. This one has received more attention than most of these and is in the 54th percentile.
So far Altmetric has tracked 1,184 research outputs from this source. They typically receive a little more attention than average, with a mean Attention Score of 6.7. This one is in the 48th percentile – i.e., 48% of its peers scored the same or lower than it.
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 310,829 tracked outputs that were published within six weeks on either side of this one in any source. This one has gotten more attention than average, scoring higher than 55% of its contemporaries.
We're also able to compare this research output to 59 others from the same source and published within six weeks on either side of this one. This one has gotten more attention than average, scoring higher than 59% of its contemporaries.