↓ Skip to main content

New microdeletion and microduplication syndromes: a comprehensive review

Overview of attention for article published in Genetics and Molecular Biology, January 2014
Altmetric Badge

About this Attention Score

  • Good Attention Score compared to outputs of the same age (68th percentile)
  • Above-average Attention Score compared to outputs of the same age and source (62nd percentile)

Mentioned by

twitter
7 tweeters
facebook
2 Facebook pages

Citations

dimensions_citation
82 Dimensions

Readers on

mendeley
126 Mendeley
You are seeing a free-to-access but limited selection of the activity Altmetric has collected about this research output. Click here to find out more.
Title
New microdeletion and microduplication syndromes: a comprehensive review
Published in
Genetics and Molecular Biology, January 2014
DOI 10.1590/s1415-47572014000200007
Pubmed ID
Authors

Julián Nevado, Rafaella Mergener, María Palomares-Bralo, Karen Regina Souza, Elena Vallespín, Rocío Mena, Víctor Martínez-Glez, María Ángeles Mori, Fernando Santos, Sixto García-Miñaur, Fé García-Santiago, Elena Mansilla, Luis Fernández, María Luisa de Torres, Mariluce Riegel, Pablo Lapunzina

Abstract

Several new microdeletion and microduplication syndromes are emerging as disorders that have been proven to cause multisystem pathologies frequently associated with intellectual disability (ID), multiple congenital anomalies (MCA), autistic spectrum disorders (ASD) and other phenotypic findings. In this paper, we review the "new" and emergent microdeletion and microduplication syndromes that have been described and recognized in recent years with the aim of summarizing their main characteristics and chromosomal regions involved. We decided to group them by genomic region and within these groupings have classified them into those that include ID, MCA, ASD or other findings. This review does not intend to be exhaustive but is rather a quick guide to help pediatricians, clinical geneticists, cytogeneticists and/or molecular geneticists.

Twitter Demographics

The data shown below were collected from the profiles of 7 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 126 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Italy 2 2%
Spain 1 <1%
Netherlands 1 <1%
Hungary 1 <1%
Unknown 121 96%

Demographic breakdown

Readers by professional status Count As %
Researcher 21 17%
Student > Master 18 14%
Other 16 13%
Student > Ph. D. Student 15 12%
Student > Bachelor 12 10%
Other 26 21%
Unknown 18 14%
Readers by discipline Count As %
Medicine and Dentistry 30 24%
Agricultural and Biological Sciences 28 22%
Biochemistry, Genetics and Molecular Biology 28 22%
Computer Science 5 4%
Neuroscience 4 3%
Other 11 9%
Unknown 20 16%

Attention Score in Context

This research output has an Altmetric Attention Score of 4. 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 28 July 2021.
All research outputs
#6,559,934
of 21,672,018 outputs
Outputs from Genetics and Molecular Biology
#95
of 677 outputs
Outputs of similar age
#71,022
of 230,806 outputs
Outputs of similar age from Genetics and Molecular Biology
#4
of 8 outputs
Altmetric has tracked 21,672,018 research outputs across all sources so far. This one has received more attention than most of these and is in the 68th percentile.
So far Altmetric has tracked 677 research outputs from this source. They receive a mean Attention Score of 2.8. This one has done well, scoring higher than 85% 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 230,806 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 68% of its contemporaries.
We're also able to compare this research output to 8 others from the same source and published within six weeks on either side of this one. This one has scored higher than 4 of them.