| Title |
Carrier Screening for Spinal Muscular Atrophy (SMA) in 107,611 Pregnant Women during the Period 2005–2009: A Prospective Population-Based Cohort Study
|
|---|---|
| Published in |
PLOS ONE, February 2011
|
| DOI | 10.1371/journal.pone.0017067 |
| Pubmed ID | |
| Authors |
Yi-Ning Su, Chia-Cheng Hung, Shin-Yu Lin, Fang-Yi Chen, Jimmy P. S. Chern, Chris Tsai, Tai-Sheng Chang, Chih-Chao Yang, Hung Li, Hong-Nerng Ho, Chien-Nan Lee |
| Abstract |
Spinal muscular atrophy (SMA) is the most common neuromuscular autosomal recessive disorder. The American College of Medical Genetics has recently recommended routine carrier screening for SMA because of the high carrier frequency (1 in 25-50) as well as the severity of that genetic disease. Large studies are needed to determine the feasibility, benefits, and costs of such a program. |
Mendeley readers
The data shown below were compiled from readership statistics for 96 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| United Kingdom | 3 | 3% |
| Germany | 2 | 2% |
| South Africa | 1 | 1% |
| France | 1 | 1% |
| Israel | 1 | 1% |
| Spain | 1 | 1% |
| Unknown | 87 | 91% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Researcher | 15 | 16% |
| Student > Master | 15 | 16% |
| Student > Ph. D. Student | 10 | 10% |
| Other | 8 | 8% |
| Student > Bachelor | 6 | 6% |
| Other | 17 | 18% |
| Unknown | 25 | 26% |
| Readers by discipline | Count | As % |
|---|---|---|
| Biochemistry, Genetics and Molecular Biology | 23 | 24% |
| Medicine and Dentistry | 18 | 19% |
| Agricultural and Biological Sciences | 15 | 16% |
| Neuroscience | 5 | 5% |
| Business, Management and Accounting | 1 | 1% |
| Other | 6 | 6% |
| Unknown | 28 | 29% |