Automated Author ProfileE., Tasdelen
E., Tasdelen
Current S-Index
Sum of Dataset Indices for all datasets
Average Dataset Index per Dataset
Average Dataset Index per dataset
Total Datasets
Total datasets for this author
Average FAIR Score
Average FAIR Score per dataset
Total Citations
Total citations to the author's datasets
Total Mentions
Total mentions of the author's datasets
S-Index Interpretation
The S-Index (Sharing Index) is a comprehensive metric that represents the cumulative impact of all your datasets. It is calculated as the sum of Dataset Index scores across all your claimed datasets.
What it means:
- A higher S-index indicates greater overall impact of your datasets relative to typical datasets in their fields of research
- The S-Index grows as you add more datasets or as existing datasets gain more citations and mentions
- It provides a single number to track your research data impact over time
Current S-Index: 1.3 (sum of 2 datasets Dataset Index scores)
More information here.
S-Index Over Time
Cumulative Citations Over Time
Cumulative Mentions Over Time
Datasets
Introduction: Heterozygous variants in MAP3K20 have been implicated in a recently identified syndromic form of ectodermal dysplasia, distinguished by a unique combination of ectrodactyly, craniosynostosis, bilateral sensorineural hearing loss, and skeletal anomalies such as transverse limb defect, brachydactyly.Case Presentation: We present an 11-year-old male with ectrodactyly, ectodermal dysplasia, bilateral sensorineural hearing loss, and cutaneous syndactyly in both hands. A de novo heterozygous variant, c.837_839del p.(Asn279del), in MAP3K20 was identified in his whole exome sequencing. Conclusion: The results of this study emphasize the critical role of MAP3K20 as a key gene in conditions involving ectrodactyly, craniosynostosis, bilateral sensorioneural hearing loss, ectodermal features, transverse limb defect and brachydactyly. We highlight the importance of prioritizing the recurrent p.(Asn279del) variant in genetic testing for affected individuals. Furthermore, we propose an acronym for this dominant disorder caused by the MAP3K20 gene vairants: DECES (Dominant/Deafness, Ectodermal Dysplasia, Craniosynostosis, Ectrodactyly, Skeletal anomalies).
Authors
- karger, figshare admin ;
- E., Tasdelen ;
- M., Gönül ;
- B., ÖztelcanGündüz ;
- Ç., Üner ;
- A., Büke ;
- A., Sezer
Introduction: Heterozygous variants in MAP3K20 have been implicated in a recently identified syndromic form of ectodermal dysplasia, distinguished by a unique combination of ectrodactyly, craniosynostosis, bilateral sensorineural hearing loss, and skeletal anomalies such as transverse limb defect, brachydactyly.Case Presentation: We present an 11-year-old male with ectrodactyly, ectodermal dysplasia, bilateral sensorineural hearing loss, and cutaneous syndactyly in both hands. A de novo heterozygous variant, c.837_839del p.(Asn279del), in MAP3K20 was identified in his whole exome sequencing. Conclusion: The results of this study emphasize the critical role of MAP3K20 as a key gene in conditions involving ectrodactyly, craniosynostosis, bilateral sensorioneural hearing loss, ectodermal features, transverse limb defect and brachydactyly. We highlight the importance of prioritizing the recurrent p.(Asn279del) variant in genetic testing for affected individuals. Furthermore, we propose an acronym for this dominant disorder caused by the MAP3K20 gene vairants: DECES (Dominant/Deafness, Ectodermal Dysplasia, Craniosynostosis, Ectrodactyly, Skeletal anomalies).
Authors
- karger, figshare admin ;
- E., Tasdelen ;
- M., Gönül ;
- B., ÖztelcanGündüz ;
- Ç., Üner ;
- A., Büke ;
- A., Sezer