Publication: Defining the Effect of the 16p11.2 Duplication on Cognition, Behavior, and Medical Comorbidities
Defining the Effect of the 16p11.2 Duplication on Cognition, Behavior, and Medical Comorbidities
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D’Angelo, D., Lebon, S., Chen, Q., Martin-Brevet, S., Snyder, L. G., Hippolyte, L., Hanson, E., Maillard, A. M., Faucett, W. A., Macé, A., Pain, A., Bernier, R., Chawner, S. J. R. A., David, A., Andrieux, J., Aylward, E., Baujat, G., Caldeira, I., Conus, P., … et al. (2016). Defining the Effect of the 16p11.2 Duplication on Cognition, Behavior, and Medical Comorbidities. JAMA Psychiatry, 73, 20–30. https://doi.org/10.1001/jamapsychiatry.2015.2123
Abstract
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Abstract
IMPORTANCE The 16p11.2 BP4-BP5 duplication is the copy number variant most frequently associated with autism spectrum disorder (ASD), schizophrenia, and comorbidities such as decreased body mass index (BMI). OBJECTIVES To characterize the effects of the 16p11.2 duplication on cognitive, behavioral, medical, and anthropometric traits and to understand the specificity of these effects by systematically comparing results in duplication carriers and reciprocal deletion carriers, who are also at risk for ASD. DESIGN, SETTING, AND PARTICIPA
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Creators (Authors)
- D'Angelo, Debra
- Lebon, Sébastien
- Chen, Qixuan
- Martin-Brevet, Sandra
- Snyder, LeeAnne Green
- Hippolyte, Loyse
- Hanson, Ellen
- Maillard, Anne M
- Macé, Aurélien
- Pain, Aurélie
- Bernier, Raphael
- Chawner, Samuel J R A
- David, Albert
- Andrieux, Joris
- Aylward, Elizabeth
- Baujat, Genevieve
- Caldeira, Ines
- Conus, Philippe
- Ferrari, Carrina
- Forzano, Francesca
- Gérard, Marion
- Goin-Kochel, Robin P
- Grant, Ellen
- Hunter, Jill V
- Isidor, Bertrand
- Jacquette, Aurélia
- Jønch, Aia E
- Keren, Boris
- Lacombe, Didier
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D’Angelo, D., Lebon, S., Chen, Q., Martin-Brevet, S., Snyder, L. G., Hippolyte, L., Hanson, E., Maillard, A. M., Faucett, W. A., Macé, A., Pain, A., Bernier, R., Chawner, S. J. R. A., David, A., Andrieux, J., Aylward, E., Baujat, G., Caldeira, I., Conus, P., … et al. (2016). Defining the Effect of the 16p11.2 Duplication on Cognition, Behavior, and Medical Comorbidities. JAMA Psychiatry, 73, 20–30. https://doi.org/10.1001/jamapsychiatry.2015.2123
