Title |
Missense variants in TAF1 and developmental phenotypes: Challenges of determining pathogenicity
|
---|---|
Published in |
Human Mutation, November 2019
|
DOI | 10.1002/humu.23936 |
Pubmed ID | |
Authors |
Hanyin Cheng, Simona Capponi, Emma Wakeling, Elaine Marchi, Quan Li, Mengge Zhao, Chunhua Weng, Stefan G. Piatek, Helena Ahlfors, Robert Kleyner, Alan Rope, Aimé Lumaka, Prosper Lukusa, Koenraad Devriendt, Joris Vermeesch, Jennifer E. Posey, Elizabeth E. Palmer, Lucinda Murray, Eyby Leon, Jullianne Diaz, Lisa Worgan, Amali Mallawaarachchi, Julie Vogt, Sonja A. de Munnik, Lauren Dreyer, Gareth Baynam, Lisa Ewans, Zornitza Stark, Sebastian Lunke, Ana R. Gonçalves, Gabriela Soares, Jorge Oliveira, Emily Fassi, Marcia Willing, Jeff L. Waugh, Laurence Faivre, Jean‐Baptiste Riviere, Sebastien Moutton, Shehla Mohammed, Katelyn Payne, Laurence Walsh, Amber Begtrup, Maria J. Guillen Sacoto, Ganka Douglas, Nora Alexander, Michael F. Buckley, Paul R. Mark, Lesley C. Adès, Sarah A. Sandaradura, James R. Lupski, Tony Roscioli, Pankaj B. Agrawal, Antonie D. Kline, Kai Wang, H. T. Marc Timmers, Gholson J. Lyon |
X Demographics
Geographical breakdown
Country | Count | As % |
---|---|---|
United States | 4 | 44% |
Australia | 2 | 22% |
France | 1 | 11% |
Unknown | 2 | 22% |
Demographic breakdown
Type | Count | As % |
---|---|---|
Scientists | 4 | 44% |
Members of the public | 4 | 44% |
Practitioners (doctors, other healthcare professionals) | 1 | 11% |
Mendeley readers
Geographical breakdown
Country | Count | As % |
---|---|---|
Unknown | 62 | 100% |
Demographic breakdown
Readers by professional status | Count | As % |
---|---|---|
Researcher | 11 | 18% |
Student > Ph. D. Student | 8 | 13% |
Student > Master | 7 | 11% |
Student > Bachelor | 4 | 6% |
Other | 4 | 6% |
Other | 8 | 13% |
Unknown | 20 | 32% |
Readers by discipline | Count | As % |
---|---|---|
Medicine and Dentistry | 9 | 15% |
Biochemistry, Genetics and Molecular Biology | 9 | 15% |
Neuroscience | 6 | 10% |
Psychology | 3 | 5% |
Nursing and Health Professions | 2 | 3% |
Other | 6 | 10% |
Unknown | 27 | 44% |