Title |
A Recurrent De Novo Heterozygous COG4 Substitution Leads to Saul-Wilson Syndrome, Disrupted Vesicular Trafficking, and Altered Proteoglycan Glycosylation
|
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Published in |
American Journal of Human Genetics, October 2018
|
DOI | 10.1016/j.ajhg.2018.09.003 |
Pubmed ID | |
Authors |
Carlos R. Ferreira, Zhi-Jie Xia, Aurélie Clément, David A. Parry, Mariska Davids, Fulya Taylan, Prashant Sharma, Coleman T. Turgeon, Bernardo Blanco-Sánchez, Bobby G. Ng, Clare V. Logan, Lynne A. Wolfe, Benjamin D. Solomon, Megan T. Cho, Ganka Douglas, Daniel R. Carvalho, Heiko Bratke, Marte Gjøl Haug, Jennifer B. Phillips, Jeremy Wegner, Michael Tiemeyer, Kazuhiro Aoki, Undiagnosed Diseases Network, Scottish Genome Partnership, Ann Nordgren, Anna Hammarsjö, Angela L. Duker, Luis Rohena, Hanne Buciek Hove, Jakob Ek, David Adams, Cynthia J. Tifft, Tito Onyekweli, Tara Weixel, Ellen Macnamara, Kelly Radtke, Zöe Powis, Dawn Earl, Melissa Gabriel, Alvaro H. Serrano Russi, Lauren Brick, Mariya Kozenko, Emma Tham, Kimiyo M. Raymond, John A. Phillips, George E. Tiller, William G. Wilson, Rizwan Hamid, May C.V. Malicdan, Nishimura, Giedre Grigelioniene, Andrew Jackson, Monte Westerfield, Michael B. Bober, William A. Gahl, Hudson H. Freeze |
X Demographics
Geographical breakdown
Country | Count | As % |
---|---|---|
United States | 6 | 46% |
United Kingdom | 4 | 31% |
Unknown | 3 | 23% |
Demographic breakdown
Type | Count | As % |
---|---|---|
Members of the public | 10 | 77% |
Scientists | 2 | 15% |
Science communicators (journalists, bloggers, editors) | 1 | 8% |
Mendeley readers
Geographical breakdown
Country | Count | As % |
---|---|---|
Unknown | 49 | 100% |
Demographic breakdown
Readers by professional status | Count | As % |
---|---|---|
Student > Ph. D. Student | 8 | 16% |
Researcher | 6 | 12% |
Student > Bachelor | 4 | 8% |
Student > Postgraduate | 4 | 8% |
Professor | 3 | 6% |
Other | 8 | 16% |
Unknown | 16 | 33% |
Readers by discipline | Count | As % |
---|---|---|
Biochemistry, Genetics and Molecular Biology | 17 | 35% |
Medicine and Dentistry | 5 | 10% |
Agricultural and Biological Sciences | 4 | 8% |
Pharmacology, Toxicology and Pharmaceutical Science | 2 | 4% |
Veterinary Science and Veterinary Medicine | 1 | 2% |
Other | 4 | 8% |
Unknown | 16 | 33% |