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.
X Demographics
Mendeley readers
Attention Score in Context
| Title |
FOXG1 syndrome: genotype–phenotype association in 83 patients with FOXG1 variants
|
|---|---|
| Published in |
Genetics in Medicine, June 2017
|
| DOI | 10.1038/gim.2017.75 |
| Pubmed ID | |
| Authors |
Diana Mitter, Milka Pringsheim, Marc Kaulisch, Kim Sarah Plümacher, Simone Schröder, Rita Warthemann, Rami Abou Jamra, Martina Baethmann, Thomas Bast, Hans-Martin Büttel, Julie S Cohen, Elizabeth Conover, Carolina Courage, Angelika Eger, Ali Fatemi, Theresa A Grebe, Natalie S Hauser, Wolfram Heinritz, Katherine L Helbig, Marion Heruth, Dagmar Huhle, Karen Höft, Stephanie Karch, Gerhard Kluger, G Christoph Korenke, Johannes R Lemke, Richard E Lutz, Steffi Patzer, Isabelle Prehl, Konstanze Hoertnagel, Keri Ramsey, Tina Rating, Angelika Rieß, Luis Rohena, Mareike Schimmel, Rachel Westman, Frank-Martin Zech, Barbara Zoll, Dörthe Malzahn, Birgit Zirn, Knut Brockmann |
| Abstract |
PurposeThe study aimed at widening the clinical and genetic spectrum and assessing genotype-phenotype associations in FOXG1 syndrome due to FOXG1 variants.MethodsWe compiled 30 new and 53 reported patients with a heterozygous pathogenic or likely pathogenic variant in FOXG1. We grouped patients according to type and location of the variant. Statistical analysis of molecular and clinical data was performed using Fisher's exact test and a nonparametric multivariate test.ResultsAmong the 30 new patients, we identified 19 novel FOXG1 variants. Among the total group of 83 patients, there were 54 variants: 20 frameshift (37%), 17 missense (31%), 15 nonsense (28%), and 2 in-frame variants (4%). Frameshift and nonsense variants are distributed over all FOXG1 protein domains; missense variants cluster within the conserved forkhead domain. We found a higher phenotypic variability than previously described. Genotype-phenotype association revealed significant differences in psychomotor development and neurological features between FOXG1 genotype groups. More severe phenotypes were associated with truncating FOXG1 variants in the N-terminal domain and the forkhead domain (except conserved site 1) and milder phenotypes with missense variants in the forkhead conserved site 1.ConclusionsThese data may serve for improved interpretation of new FOXG1 sequence variants and well-founded genetic counseling.Genetics in Medicine advance online publication, 29 June 2017; doi:10.1038/gim.2017.75. |
X Demographics
The data shown below were collected from the profile of 1 X user who shared this research output. Click here to find out more about how the information was compiled.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Unknown | 1 | 100% |
Demographic breakdown
| Type | Count | As % |
|---|---|---|
| Members of the public | 1 | 100% |
Mendeley readers
The data shown below were compiled from readership statistics for 106 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Unknown | 106 | 100% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Student > Ph. D. Student | 15 | 14% |
| Researcher | 13 | 12% |
| Student > Master | 10 | 9% |
| Student > Bachelor | 7 | 7% |
| Student > Doctoral Student | 5 | 5% |
| Other | 20 | 19% |
| Unknown | 36 | 34% |
| Readers by discipline | Count | As % |
|---|---|---|
| Biochemistry, Genetics and Molecular Biology | 21 | 20% |
| Medicine and Dentistry | 15 | 14% |
| Agricultural and Biological Sciences | 11 | 10% |
| Neuroscience | 10 | 9% |
| Unspecified | 2 | 2% |
| Other | 6 | 6% |
| Unknown | 41 | 39% |
Attention Score in Context
This research output has an Altmetric Attention Score of 1. 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 30 June 2017.
All research outputs
#22,764,772
of 25,382,440 outputs
Outputs from Genetics in Medicine
#2,842
of 2,945 outputs
Outputs of similar age
#287,476
of 328,273 outputs
Outputs of similar age from Genetics in Medicine
#58
of 60 outputs
Altmetric has tracked 25,382,440 research outputs across all sources so far. This one is in the 1st percentile – i.e., 1% of other outputs scored the same or lower than it.
So far Altmetric has tracked 2,945 research outputs from this source. They typically receive a lot more attention than average, with a mean Attention Score of 19.0. This one is in the 1st percentile – i.e., 1% 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 328,273 tracked outputs that were published within six weeks on either side of this one in any source. This one is in the 1st percentile – i.e., 1% of its contemporaries scored the same or lower than it.
We're also able to compare this research output to 60 others from the same source and published within six weeks on either side of this one. This one is in the 1st percentile – i.e., 1% of its contemporaries scored the same or lower than it.