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Individuals with FOXP1 syndrome present with a complex neurobehavioral profile with high rates of ADHD, anxiety, repetitive behaviors, and sensory symptoms.

Autor: Trelles, M. Pilar^1,2,3 (AUTHOR) pilar.trelles@mssm.edu, Levy, Tess^1,2 (AUTHOR), Lerman, Bonnie^1,2 (AUTHOR), Siper, Paige^1,2,3 (AUTHOR), Lozano, Reymundo^1,2,4,5 (AUTHOR), Halpern, Danielle^1,2 (AUTHOR), Walker, Hannah^1,2 (AUTHOR), Zweifach, Jessica^1,2 (AUTHOR), Frank, Yitzchak^1,2 (AUTHOR), Foss-Feig, Jennifer^1,2,3 (AUTHOR), Kolevzon, Alexander^1,2,3,6 (AUTHOR), Buxbaum, Joseph^1,2,3,6 (AUTHOR)

Publikováno v: Molecular Autism. 9/29/2021, Vol. 12 Issue 1, p1-15. 15p.

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Rare coding variation provides insight into the genetic architecture and phenotypic context of autism

Autor: J. M., Fu, Satterstrom, F. K., Peng, M., Brand, H., Collins, R. L., Dong, S., Wamsley, B., Klei, L., Wang, L., Hao, S. P., Stevens, C. R., Cusick, C., Babadi, M., Banks, E., Collins, B., Dodge, S., Gabriel, S. B., Gauthier, L., Lee, S. K., Liang, L., Ljungdahl, A., Mahjani, B., Sloofman, L., Smirnov, A. N., Barbosa, M., Betancur, C., Brusco, A., Chung, B. H. Y., Cook, E. H., Cuccaro, M. L., Domenici, E., Ferrero, G. B., Gargus, J. J., Herman, G. E., Hertz-Picciotto, I., Maciel, P., Manoach, D. S., Passos-Bueno, M. R., Persico, A., Renieri, A., Sutcliffe, J. S., Tassone, F., Trabetti, E., Campos, G., Cardaropoli, S., Carli, D., Chan, M. C. Y., Fallerini, C., Giorgio, E., Girardi, A. C., Hansen-Kiss, E., Lee, S. L., Lintas, C., Ludena, Y., Nguyen, R., Pavinato, L., Pericak-Vance, M., Pessah, I. N., Schmidt, R. J., Smith, M., Costa, C. I. S., Trajkova, S., Wang, J. Y. T., M. H. C., Yu, Aleksic, B., Artomov, M., Benetti, E., Biscaldi-Schafer, M., Borglum, A. D., Carracedo, A., Chiocchetti, A. G., Coon, H., Doan, R. N., Fernandez-Prieto, M., Freitag, C. M., Gerges, S., Guter, S., Hougaard, D. M., Hultman, C. M., Jacob, S., Kaartinen, M., Kolevzon, A., Kushima, I., Lehtimaki, T., Rizzo, C. L., Maltman, N., Manara, M., Meiri, G., Menashe, I., Miller, J., Minshew, N., Mosconi, M., Ozaki, N., Palotie, A., Parellada, M., Puura, K., Reichenberg, A., Sandin, S., Scherer, S. W., Schlitt, S., Schmitt, L., Schneider-Momm, K., Siper, P. M., Suren, P., Sweeney, J. A., Teufel, K., del Pilar Trelles, M., Weiss, L. A., Yuen, R., Cutler, D. J., De Rubeis, S., Buxbaum, J. D., Daly, M. J., Devlin, B., Roeder, K., Sanders, S. J., Talkowski, M. E.

Publikováno v: Nature genetics, vol 54, iss 9
Nature Genetics
Nature Genetics, 2022, 54 (9), pp.1320-1331. ⟨10.1038/s41588-022-01104-0⟩
Nat Genet
Repositório Institucional da USP (Biblioteca Digital da Produção Intelectual)
Universidade de São Paulo (USP)
instacron:USP

International audience; Some individuals with autism spectrum disorder (ASD) carry functional mutations rarely observed in the general population. We explored the genes disrupted by these variants from joint analysis of protein-truncating variants (P

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e272fcce2991b63297b66fd9e9849ad8
http://hdl.handle.net/11562/1073647

Additional file 1 of Clinical trial of insulin-like growth factor-1 in Phelan-McDermid syndrome

Autor: Kolevzon, A., Breen, M. S., Siper, P. M., Halpern, D., Frank, Y., Rieger, H., Weismann, J., Trelles, M. P., Lerman, B., Rapaport, R., Buxbaum, J. D.

Additional file 1: Table S1. Adverse events associated with IGF-1.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::84a08f4ecb36f10a2b6c61a174cdcd36