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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

Non-rapid eye movement sleep and wake neurophysiology in schizophrenia.

Autor: Kozhemiako N; Department of Psychiatry, Brigham and Women's Hospital, Harvard Medical School, Boston, United States., Wang J; The Affiliated Wuxi Mental Health Center of Nanjing Medical University, Wuxi, China., Jiang C; The Affiliated Wuxi Mental Health Center of Nanjing Medical University, Wuxi, China., Wang LA; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, United States., Gai G; The Affiliated Wuxi Mental Health Center of Nanjing Medical University, Wuxi, China., Zou K; The Affiliated Wuxi Mental Health Center of Nanjing Medical University, Wuxi, China., Wang Z; The Affiliated Wuxi Mental Health Center of Nanjing Medical University, Wuxi, China., Yu X; The Affiliated Wuxi Mental Health Center of Nanjing Medical University, Wuxi, China., Zhou L; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, United States., Li S; Department of Psychiatry, McLean Hospital, Harvard Medical School, Belmont, United States., Guo Z; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, United States., Law R; Department of Psychiatry, Brigham and Women's Hospital, Harvard Medical School, Boston, United States., Coleman J; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, United States., Mylonas D; Department of Psychiatry, Massachusetts General Hospital, Harvard Medical School, Boston, United States., Shen L; Bio-X Institutes, Shanghai Jiao Tong University, Shanghai, China., Wang G; The Affiliated Wuxi Mental Health Center of Nanjing Medical University, Wuxi, China., Tan S; Huilong Guan Hospital, Beijing University, Beijing, China., Qin S; Bio-X Institutes, Shanghai Jiao Tong University, Shanghai, China., Huang H; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, United States.; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Harvard Medical School, Boston, United States., Murphy M; Department of Psychiatry, McLean Hospital, Harvard Medical School, Belmont, United States., Stickgold R; Beth Israel Deaconess Medical Center, Boston, United States.; Department of Psychiatry, Harvard Medical School, Boston, United States., Manoach D; Department of Psychiatry, Massachusetts General Hospital, Harvard Medical School, Boston, United States., Zhou Z; The Affiliated Wuxi Mental Health Center of Nanjing Medical University, Wuxi, China., Zhu W; The Affiliated Wuxi Mental Health Center of Nanjing Medical University, Wuxi, China., Hal MH; Department of Psychiatry, McLean Hospital, Harvard Medical School, Belmont, United States., Purcell SM; Department of Psychiatry, Brigham and Women's Hospital, Harvard Medical School, Boston, United States.; Department of Psychiatry, Harvard Medical School, Boston, United States., Pan JQ; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, United States.

Publikováno v: ELife [Elife] 2022 May 17; Vol. 11. Date of Electronic Publication: 2022 May 17.

Prospective Evaluation of the Ultrasound Signs Proposed for the Description of Uterine Niche in Nonpregnant Women.

Autor: Feldman N; Department of Obstetrics and Gynecology, The Yitzhak Shamir Medical Center (Formerly Assaf Harofeh Medical Center), Affiliated With the Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel., Maymon R; Department of Obstetrics and Gynecology, The Yitzhak Shamir Medical Center (Formerly Assaf Harofeh Medical Center), Affiliated With the Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel., Jauniaux E; EGA Institute for Women's Health, Faculty of Population Health Sciences, University College London (UCL), London, UK., Manoach D; Department of Obstetrics and Gynecology, The Yitzhak Shamir Medical Center (Formerly Assaf Harofeh Medical Center), Affiliated With the Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel., Mor M; Department of Obstetrics and Gynecology, The Yitzhak Shamir Medical Center (Formerly Assaf Harofeh Medical Center), Affiliated With the Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel., Marczak E; Department of Obstetrics and Gynecology, The Yitzhak Shamir Medical Center (Formerly Assaf Harofeh Medical Center), Affiliated With the Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel., Melcer Y; Department of Obstetrics and Gynecology, The Yitzhak Shamir Medical Center (Formerly Assaf Harofeh Medical Center), Affiliated With the Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.

Publikováno v: Journal of ultrasound in medicine : official journal of the American Institute of Ultrasound in Medicine [J Ultrasound Med] 2022 Apr; Vol. 41 (4), pp. 917-923. Date of Electronic Publication: 2021 Jul 01.

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