Title |
NCKAP1 Disruptive Variants Lead to a Neurodevelopmental Disorder with Core Features of Autism
|
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Published in |
American Journal of Human Genetics, November 2020
|
DOI | 10.1016/j.ajhg.2020.10.002 |
Pubmed ID | |
Authors |
Hui Guo, Qiumeng Zhang, Rujia Dai, Bin Yu, Kendra Hoekzema, Jieqiong Tan, Senwei Tan, Xiangbin Jia, Wendy K Chung, Rebecca Hernan, Fowzan S Alkuraya, Ahood Alsulaiman, Mohammad A Al-Muhaizea, Gaetan Lesca, Linda Pons, Audrey Labalme, Linda Laux, Emily Bryant, Natasha J Brown, Elena Savva, Samantha Ayres, Dhamidhu Eratne, Hilde Peeters, Frédéric Bilan, Lucile Letienne-Cejudo, Brigitte Gilbert-Dussardier, Inge-Lore Ruiz-Arana, Jenny Meylan Merlini, Alexia Boizot, Lucia Bartoloni, Federico Santoni, Danielle Karlowicz, Marie McDonald, Huidan Wu, Zhengmao Hu, Guodong Chen, Jianjun Ou, Charlotte Brasch-Andersen, Christina R Fagerberg, Inken Dreyer, Anne Chun-Hui Tsai, Valerie Slegesky, Rose B McGee, Brina Daniels, Elizabeth A Sellars, Lori A Carpenter, Bradley Schaefer, Maria J Guillen Sacoto, Amber Begtrup, Rhonda E Schnur, Sumit Punj, Ingrid M Wentzensen, Lindsay Rhodes, Qian Pan, Raphael A Bernier, Chao Chen, Evan E Eichler, Kun Xia |
X Demographics
Geographical breakdown
Country | Count | As % |
---|---|---|
United Kingdom | 1 | 100% |
Demographic breakdown
Type | Count | As % |
---|---|---|
Practitioners (doctors, other healthcare professionals) | 1 | 100% |
Mendeley readers
Geographical breakdown
Country | Count | As % |
---|---|---|
Unknown | 62 | 100% |
Demographic breakdown
Readers by professional status | Count | As % |
---|---|---|
Researcher | 8 | 13% |
Student > Ph. D. Student | 6 | 10% |
Student > Master | 5 | 8% |
Student > Bachelor | 5 | 8% |
Student > Doctoral Student | 3 | 5% |
Other | 8 | 13% |
Unknown | 27 | 44% |
Readers by discipline | Count | As % |
---|---|---|
Biochemistry, Genetics and Molecular Biology | 6 | 10% |
Medicine and Dentistry | 6 | 10% |
Neuroscience | 5 | 8% |
Nursing and Health Professions | 4 | 6% |
Psychology | 3 | 5% |
Other | 10 | 16% |
Unknown | 28 | 45% |