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

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Lack of linkage or association between schizophrenia and the polymorphic trinucleotide repeat within the KCNN3 gene on chromosome 1q21

Autor: Antonarakis, Stylianos, Blouin, Jean-Louis, Lasseter, V. K., Gehrig, Corinne, Radhakrishna, U., Nestadt, G., Housman, D. E., Kazazian, H. H., Kalman, K., Gutman, G., Fantino, E., Chandy, K. G., Gargus, J. J., Pulver, A. E.

Publikováno v: American Journal of Medical Genetics, Vol. 88, No 4 (1999) pp. 348-351

To determine the importance of a candidate gene KCNN3 (formerly named hSKCa3) in the susceptibility to schizophrenia, we have studied the genotypes of a (CAG)n polymorphism within this gene in the DNAs of the members of 54 multiplex families with thi

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::b13dcc86b8014ef0aef355aeeb49243b
https://pubmed.ncbi.nlm.nih.gov/10402501

Mild Phenotype in a Male with Pyruvate Dehydrogenase Complex Deficiency Associated with Novel Hemizygous In-Frame Duplication of the E1α Subunit Gene (PDHA1).

Autor: Steller, J., Gargus, J. J., Gibbs, L. H., Hasso, A. N., Kimonis, V. E.

Publikováno v: Neuropediatrics; Feb2014, Vol. 45 Issue 1, p56-60, 5p

Genomic organization and promoter analysis of human KCNN3 gene.

Autor: Sun, G., Tomita, H., Shakkottai, V. G., Gargus, J. J.

Publikováno v: Journal of Human Genetics; 2001, Vol. 46 Issue 8, p463, 8p