Title |
Gain and loss of TASK3 channel function and its regulation by novel variation cause KCNK9 imprinting syndrome
|
---|---|
Published in |
Genome Medicine, June 2022
|
DOI | 10.1186/s13073-022-01064-4 |
Pubmed ID | |
Authors |
Margot A. Cousin, Emma L. Veale, Nikita R. Dsouza, Swarnendu Tripathi, Robyn G. Holden, Maria Arelin, Geoffrey Beek, Mir Reza Bekheirnia, Jasmin Beygo, Vikas Bhambhani, Martin Bialer, Stefania Bigoni, Cyrus Boelman, Jenny Carmichael, Thomas Courtin, Benjamin Cogne, Ivana Dabaj, Diane Doummar, Laura Fazilleau, Alessandra Ferlini, Ralitza H. Gavrilova, John M. Graham, Tobias B. Haack, Jane Juusola, Sarina G. Kant, Saima Kayani, Boris Keren, Petra Ketteler, Chiara Klöckner, Tamara T. Koopmann, Teresa M. Kruisselbrink, Alma Kuechler, Laëtitia Lambert, Xénia Latypova, Robert Roger Lebel, Magalie S. Leduc, Emanuela Leonardi, Andrea M. Lewis, Wendy Liew, Keren Machol, Samir Mardini, Kirsty McWalter, Cyril Mignot, Julie McLaughlin, Alessandra Murgia, Vinodh Narayanan, Caroline Nava, Sonja Neuser, Mathilde Nizon, Davide Ognibene, Joohyun Park, Konrad Platzer, Céline Poirsier, Maximilian Radtke, Keri Ramsey, Cassandra K. Runke, Maria J. Guillen Sacoto, Fernando Scaglia, Marwan Shinawi, Stephanie Spranger, Ee Shien Tan, John Taylor, Anne-Sophie Trentesaux, Filippo Vairo, Rebecca Willaert, Neda Zadeh, Raul Urrutia, Dusica Babovic-Vuksanovic, Michael T. Zimmermann, Alistair Mathie, Eric W. Klee |
X Demographics
Geographical breakdown
Country | Count | As % |
---|---|---|
United States | 4 | 15% |
United Kingdom | 2 | 7% |
India | 1 | 4% |
Sweden | 1 | 4% |
Paraguay | 1 | 4% |
Denmark | 1 | 4% |
South Africa | 1 | 4% |
Germany | 1 | 4% |
France | 1 | 4% |
Other | 1 | 4% |
Unknown | 13 | 48% |
Demographic breakdown
Type | Count | As % |
---|---|---|
Members of the public | 18 | 67% |
Practitioners (doctors, other healthcare professionals) | 5 | 19% |
Scientists | 4 | 15% |
Mendeley readers
Geographical breakdown
Country | Count | As % |
---|---|---|
Unknown | 20 | 100% |
Demographic breakdown
Readers by professional status | Count | As % |
---|---|---|
Unspecified | 4 | 20% |
Student > Ph. D. Student | 2 | 10% |
Student > Master | 2 | 10% |
Researcher | 2 | 10% |
Student > Doctoral Student | 1 | 5% |
Other | 0 | 0% |
Unknown | 9 | 45% |
Readers by discipline | Count | As % |
---|---|---|
Unspecified | 4 | 20% |
Pharmacology, Toxicology and Pharmaceutical Science | 1 | 5% |
Biochemistry, Genetics and Molecular Biology | 1 | 5% |
Nursing and Health Professions | 1 | 5% |
Psychology | 1 | 5% |
Other | 2 | 10% |
Unknown | 10 | 50% |