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Mendeley readers
| Title |
Whole-exome analysis of foetal autopsy tissue reveals a frameshift mutation in OBSL1, consistent with a diagnosis of 3-M Syndrome
|
|---|---|
| Published in |
BMC Genomics, January 2015
|
| DOI | 10.1186/1471-2164-16-s1-s12 |
| Pubmed ID | |
| Authors |
Christian R Marshall, Sandra A Farrell, Donna Cushing, Tara Paton, Tracy L Stockley, Dimitri J Stavropoulos, Peter N Ray, Michael Szego, Lynette Lau, Sergio L Pereira, Ronald D Cohn, Richard F Wintle, Adel M Abuzenadah, Muhammad Abu-Elmagd, Stephen W Scherer |
| Abstract |
We report a consanguineous couple that has experienced three consecutive pregnancy losses following the foetal ultrasound finding of short limbs. Post-termination examination revealed no skeletal dysplasia, but some subtle proximal limb shortening in two foetuses, and a spectrum of mildly dysmorphic features. Karyotype was normal in all three foetuses (46, XX) and comparative genomic hybridization microarray analysis detected no pathogenic copy number variants. |
Mendeley readers
The data shown below were compiled from readership statistics for 27 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Unknown | 27 | 100% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Other | 5 | 19% |
| Student > Ph. D. Student | 5 | 19% |
| Student > Master | 3 | 11% |
| Researcher | 3 | 11% |
| Professor | 2 | 7% |
| Other | 4 | 15% |
| Unknown | 5 | 19% |
| Readers by discipline | Count | As % |
|---|---|---|
| Biochemistry, Genetics and Molecular Biology | 7 | 26% |
| Medicine and Dentistry | 5 | 19% |
| Agricultural and Biological Sciences | 3 | 11% |
| Nursing and Health Professions | 1 | 4% |
| Psychology | 1 | 4% |
| Other | 3 | 11% |
| Unknown | 7 | 26% |