Title |
Exome sequencing in routine diagnostics: a generic test for 254 patients with primary immunodeficiencies
|
---|---|
Published in |
Genome Medicine, June 2019
|
DOI | 10.1186/s13073-019-0649-3 |
Pubmed ID | |
Authors |
Peer Arts, Annet Simons, Mofareh S. AlZahrani, Elanur Yilmaz, Eman AlIdrissi, Koen J. van Aerde, Njood Alenezi, Hamza A. AlGhamdi, Hadeel A. AlJubab, Abdulrahman A. Al-Hussaini, Fahad AlManjomi, Alaa B. Alsaad, Badr Alsaleem, Abdulrahman A. Andijani, Ali Asery, Walid Ballourah, Chantal P. Bleeker-Rovers, Marcel van Deuren, Michiel van der Flier, Erica H. Gerkes, Christian Gilissen, Murad K. Habazi, Jayne Y. Hehir-Kwa, Stefanie S. Henriet, Esther P. Hoppenreijs, Sarah Hortillosa, Chantal H. Kerkhofs, Riikka Keski-Filppula, Stefan H. Lelieveld, Khurram Lone, Marius A. MacKenzie, Arjen R. Mensenkamp, Jukka Moilanen, Marcel Nelen, Jaap ten Oever, Judith Potjewijd, Pieter van Paassen, Janneke H. M. Schuurs-Hoeijmakers, Anna Simon, Tomasz Stokowy, Maartje van de Vorst, Maaike Vreeburg, Anja Wagner, Gijs T. J. van Well, Dimitra Zafeiropoulou, Evelien Zonneveld-Huijssoon, Joris A. Veltman, Wendy A. G. van Zelst-Stams, Eissa A. Faqeih, Frank L. van de Veerdonk, Mihai G. Netea, Alexander Hoischen |
X Demographics
Geographical breakdown
Country | Count | As % |
---|---|---|
United States | 9 | 24% |
United Kingdom | 6 | 16% |
Netherlands | 3 | 8% |
Mexico | 1 | 3% |
Spain | 1 | 3% |
France | 1 | 3% |
Portugal | 1 | 3% |
Australia | 1 | 3% |
India | 1 | 3% |
Other | 0 | 0% |
Unknown | 13 | 35% |
Demographic breakdown
Type | Count | As % |
---|---|---|
Members of the public | 16 | 43% |
Scientists | 15 | 41% |
Practitioners (doctors, other healthcare professionals) | 4 | 11% |
Science communicators (journalists, bloggers, editors) | 2 | 5% |
Mendeley readers
Geographical breakdown
Country | Count | As % |
---|---|---|
Unknown | 95 | 100% |
Demographic breakdown
Readers by professional status | Count | As % |
---|---|---|
Student > Master | 12 | 13% |
Researcher | 11 | 12% |
Student > Ph. D. Student | 10 | 11% |
Student > Doctoral Student | 10 | 11% |
Other | 6 | 6% |
Other | 18 | 19% |
Unknown | 28 | 29% |
Readers by discipline | Count | As % |
---|---|---|
Biochemistry, Genetics and Molecular Biology | 30 | 32% |
Medicine and Dentistry | 17 | 18% |
Agricultural and Biological Sciences | 6 | 6% |
Unspecified | 4 | 4% |
Immunology and Microbiology | 4 | 4% |
Other | 5 | 5% |
Unknown | 29 | 31% |