A distinct cognitive profile in individuals with 3q29 deletion syndrome.

Autor: Klaiman, C., White, S. P., Saulnier, C., Murphy, M., Burrell, L., Cubells, J., Walker, E., Mulle, J. G.

Publikováno v: Journal of Intellectual Disability Research; Mar2023, Vol. 67 Issue 3, p216-227, 12p, 1 Chart, 5 Graphs

Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder

Autor: Lim, Elaine T., Uddin, Mohammed, De Rubeis, Silvia, Chan, Yingleong, Kamumbu, Anne S., Zhang, Xiaochang, D'Gama, Alissa M., Kim, Sonia N., Hill, Robert Sean, Goldberg, Arthur P., Poultney, Christopher, Minshew, Nancy J., Kushima, Itaru, Aleksic, Branko, Ozaki, Norio, Parellada, Mara, Arango, Celso, Penzol, Maria J., Carracedo, Angel, Kolevzon, Alexander, Hultman, Christina M., Weiss, Lauren A., Fromer, Menachem, Chiocchetti, Andreas G., Freitag, Christine M., Church, George M., Scherer, Stephen W., Buxbaum, Joseph D., Walsh, Christopher A, Aleksic, B, Anney, R, Barbosa, M, Barrett, J, Betancur, C, Bishop, S, Brusco, A, Buxbaum, Jd, Carracedo, A, Chiocchetti, Ag, Chung, Bhy, Cook, E, Coon, H, Cutler, Dj, Daly, M, De Rubeis, S, Doan, R, Fernández-Prieto, M, Ferrero, Gb, Freitag, Cm, Fromer, M, Gargus, J, Geschwind, D, Gill, M, Gómez-Guerrero, L, Hansen-Kiss, E, He, X, Herman, G, Hertz-Picciotto, I, Hultman, C, Iliadou, B, Ionita-Laza, I, Jugessur, A, Knudsen, Gp, Kolevzon, A, Kosmicki, J, Kushima, I, Lee, Sl, Lehner, T, Lennertz, S, Lim, E, Maciel, P, Magnus, P, Manoach, D, Minshew, N, Morrow, E, Mulle, J, Neale, B, Ozaki, N, Palotie, A, Parellada, M, Passos-Bueno, Mr, Pericak-Vance, M, Persico, A, Pessah, I, Reichenberg, A, Reichert, J, Renieri, A, Robinson, E, Samocha, K, Sanders, S, Sandin, S, Santangelo, Sl, Satterstrom, K, Schafer, C, Schellenberg, G, Scherer, S, Senthil, G, Silva, M, Singh, T, Siper, Pm, Soares, G, Stevens, C, Stoltenberg, C, Surén, P, Sutcliffe, Js, Szatmari, P, Tassone, F, Thurm, A, Walsh, C, Weiss, L, Werling, D, Willsey, J, Xu, X, Yu, Tw, Yuen, R, Zwick, Me.

Publikováno v: Repositorio Institucional de la Consejería de Sanidad de la Comunidad de Madrid
Consejería de Sanidad de la Comunidad de Madrid
Nature Neuroscience
Nature Neuroscience, Nature Publishing Group, 2017, 20 (9), pp.1217-1224. ⟨10.1038/nn.4598⟩
Nature Neuroscience, 2017, 20 (9), pp.1217-1224. ⟨10.1038/nn.4598⟩
Nature neuroscience

International audience; We systematically analyzed postzygotic mutations (PZMs) in whole-exome sequences from the largest collection of trios (5,947) with autism spectrum disorder (ASD) available, including 282 unpublished trios, and performed resequ

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ec4699aa2b3e33998a0424fa6605504e
http://hdl.handle.net/2318/1659858

Genetic heterogeneity in schizophrenia: stratification of genome scan data using co-segregating related phenotypes.

Autor: Pulver, A.E., Mulle, J., Nestadt, G., Swartz, K.L., Blouin, J.-L., Dombroski, B., Liang, K.-Y., Housman, D.E., Kazazian, H.H., Antonarakis, S.E., Lasseter, V.K., Wolyniec, P.S., Thornquist, M.H., McGrath, J.A.

Publikováno v: Molecular Psychiatry. 2000, Vol. 5 Issue 6, p650. 4p.

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Evidence for linkage to chromosome 13q32 in an independent sample of schizophrenia families.

Autor: Mulle, J. G.¹, McDonough, J. A.², Chowdari, K. V.³, Nimgaonkar, V.³, Chakravarti, A.¹ aravinda@jhmi.edu

Publikováno v: Molecular Psychiatry. May2005, Vol. 10 Issue 5, p429-431. 3p.