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Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants

Overview of attention for article published in Genetics in Medicine, February 2018
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  • In the top 25% of all research outputs scored by Altmetric
  • High Attention Score compared to outputs of the same age (90th percentile)
  • Good Attention Score compared to outputs of the same age and source (77th percentile)

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39 X users
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4 Facebook pages

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142 Dimensions

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120 Mendeley
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1 CiteULike
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Title
Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants
Published in
Genetics in Medicine, February 2018
DOI 10.1038/gim.2017.249
Pubmed ID
Authors

Jennifer J Johnston, Jasper J van der Smagt, Jill A Rosenfeld, Alistair T Pagnamenta, Abdulrahman Alswaid, Eva H Baker, Edward Blair, Guntram Borck, Julia Brinkmann, William Craigen, Vu Chi Dung, Lisa Emrick, David B Everman, Koen L van Gassen, Suleyman Gulsuner, Margaret H Harr, Mahim Jain, Alma Kuechler, Kathleen A Leppig, Donna M McDonald-McGinn, Ngoc Thi Bich Can, Amir Peleg, Elizabeth R Roeder, R Curtis Rogers, Lena Sagi-Dain, Julie C Sapp, Alejandro A Schäffer, Denny Schanze, Helen Stewart, Jenny C Taylor, Nienke E Verbeek, Magdalena A Walkiewicz, Elaine H Zackai, Christiane Zweier, Martin Zenker, Brendan Lee, Leslie G Biesecker

Abstract

PurposeTo characterize the molecular genetics of autosomal recessive Noonan syndrome.MethodsFamilies underwent phenotyping for features of Noonan syndrome in children and their parents. Two multiplex families underwent linkage analysis. Exome, genome, or multigene panel sequencing was used to identify variants. The molecular consequences of observed splice variants were evaluated by reverse-transcription polymerase chain reaction.ResultsTwelve families with a total of 23 affected children with features of Noonan syndrome were evaluated. The phenotypic range included mildly affected patients, but it was lethal in some, with cardiac disease and leukemia. All of the parents were unaffected. Linkage analysis using a recessive model supported a candidate region in chromosome 22q11, which includes LZTR1, previously shown to harbor mutations in patients with Noonan syndrome inherited in a dominant pattern. Sequencing analyses of 21 live-born patients and a stillbirth identified biallelic pathogenic variants in LZTR1, including putative loss-of-function, missense, and canonical and noncanonical splicing variants in the affected children, with heterozygous, clinically unaffected parents and heterozygous or normal genotypes in unaffected siblings.ConclusionThese clinical and genetic data confirm the existence of a form of Noonan syndrome that is inherited in an autosomal recessive pattern and identify biallelic mutations in LZTR1.Genet Med advance online publication, 22 February 2018; doi:10.1038/gim.2017.249.

X Demographics

X Demographics

The data shown below were collected from the profiles of 39 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 120 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Unknown 120 100%

Demographic breakdown

Readers by professional status Count As %
Researcher 16 13%
Student > Ph. D. Student 13 11%
Student > Bachelor 12 10%
Student > Master 11 9%
Student > Postgraduate 6 5%
Other 18 15%
Unknown 44 37%
Readers by discipline Count As %
Biochemistry, Genetics and Molecular Biology 34 28%
Medicine and Dentistry 24 20%
Agricultural and Biological Sciences 8 7%
Nursing and Health Professions 3 3%
Pharmacology, Toxicology and Pharmaceutical Science 2 2%
Other 7 6%
Unknown 42 35%
Attention Score in Context

Attention Score in Context

This research output has an Altmetric Attention Score of 25. 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 24 November 2018.
All research outputs
#1,543,230
of 25,595,500 outputs
Outputs from Genetics in Medicine
#509
of 2,957 outputs
Outputs of similar age
#33,298
of 344,769 outputs
Outputs of similar age from Genetics in Medicine
#15
of 62 outputs
Altmetric has tracked 25,595,500 research outputs across all sources so far. Compared to these this one has done particularly well and is in the 93rd percentile: it's in the top 10% of all research outputs ever tracked by Altmetric.
So far Altmetric has tracked 2,957 research outputs from this source. They typically receive a lot more attention than average, with a mean Attention Score of 19.0. This one has done well, scoring higher than 82% 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 344,769 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 90% of its contemporaries.
We're also able to compare this research output to 62 others from the same source and published within six weeks on either side of this one. This one has done well, scoring higher than 77% of its contemporaries.