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Publication Details

Results for Wright2024:

Summary
Title Return of genetic research results in 21,532 individuals with autism
AuthorsWright, J.R., Astrovskaya, I., Barns, S.D., Goler, A., Zhou, X., Shu, C., Snyder, L.G., Han, B., Aarrestad, A., Abbeduto, L., Aberbach, G., Aberle, S., Adegbite, A., Adeniji, D., Aguilar, M., Ahlers, K., Albright, C., Alessandri, M., Algaze, Z., Alkazi, J., Amador, R., Amaral, D., Amon, L., Amundsen, L., Andrus, A., Anglo, C., Annett, R., Arar, A., Arnold, J., Arriaga, I., Arzate, E., Ashley, R., Aslamy, L., Baalman, K., Baer, M., Bahi, E., Bailey, J., Baldlock, Z., Banks, G., Baraghoshi, G., Bardett, N., Barrett, M., Bartholomew, Y., Bates, H., Beard, K., Becerra, J., Beckwith, M., Beechan, P., Beeson, L., Beeson, J., Bell, B., Belli, M., Bentley, D., Berger, N., Berman, A., Bernier, R., Berry-Kravis, E., Berwanger, M., Birdwell, S., Blank, E., Bond, R., Booker, S., Bordofsky, A., Bower, E., Bowers, L., Bradley, C., Brayer, H., Brewster, S., Brown, H., Brown, A., Brown, M., Buck, C., Buescher, C., Bullon, K., Buraima, J., Butter, E., Caamano, A., Cacciato, N., CaI, W., Calderon, N., Callahan, K., Camba, A., Campo-Soria, C., Caprara, G., Carbone, P., Carpenter, L., Carpenter, S., Casseus, M., Casten, L., Catherine, S., Chappo, A., Chavez, K., Cheathem-Johnson, R., Chen, T., Chintalapalli, S., Cho, D., Choi, Y.B., Clark, N., Clark, R., Coffman, M., Coleman, L., Coleman, K., Collins, A., Columbi, C., Comitre, J., Constant, S., Contra, A., Conyers, S., Cooper, L., Cooper, C., Coppola, L., Corlett, A., Corrales, Lady, Correa, D., Cottrell, H., Coughlin, M., Courchesne, E., Coury, D., Crocetti, D., Croson, C., Crowell, J., Cubells, J., Cunningham, S., Currin, M., Cutri, M., D’Ambrosi, S., David, G., Davis, A., Davis, S., Decius, N., Delaporte, J., DeMarco, L., Dennis, B., Deronda, A., Dhawan, E., Dichter, G., Doan, R., Dominick, K., Ortega, L.D., Doyle, E., Drayton, A., DuBois, M., Dudley, J., Duhon, G., Duncan, G., Duncan, A., Dunlevy, M., Dyer, M., Earl, R., Edmonson, C., Eldred, S., Elliott, N., Emery, B., Enright, B., Erb, S., Erickson, C., Esler, A., Estevez, L., Fanta, A., Fassler, C., Fatemi, A., Fazal, F., Featherston, M., Ferguson, J., Fish, A., Fitzgerald, K., Flores, K., Fombonne, E., Foster, M., Fowler, T., Fox, Emma, Fox, Emily, Francis, S., Frayne, M., Froman, S., Fuller, L., Galbraith, V., Gallimore, D., Gambrell, A., Gazestani, V., Geisheker, M.R., Gerdts, J., Geschwind, D., Ghaziuddin, M., Ghina, H., Given, E., Goetz, M., Gong, J., Gonring, K., Gonzalez, N., Gonzalez, A., Goodwill, E., Gordon, R., Graham, C., Gray, C., Grimes, E., Griswold, A., Gu, P., Guilfoyle, J., Gulsrud, A., Gunderson, J., Gunter, C., Gupta, S., Gupta, A., Gutierrez, A., Gwynette, F., Haidar, G., Hale, M., Haley, M., Hall, L.K., Hamer, K., Hamilton, P., Hanna, N., Hardan, A., Harkins, C., Harrell, E., Harris, J., Harris, N., Hayes, C., Hayse, B., Heckers, T., Heerwagen, K., Hennelly, D., Herbert, L., Hermle, L., Hernandez, B., Herrera, C., Hess, A., Heyman, M., Higgins, L., Phillips, B.H., Hirst, K., Ho, T., Hoffman, E., Hojlo, M., Honaker, M., Hong, M., Hooks, G., Horner, S., Horton, D., Hounchell, M., Howes, D., Huang-Storm, L., Hunter, S., Hutter, H., Hyde, E., Ibanez, T., Ingram, K., Istephanous, D., Jacob, S., Jarratt, A., Jelinek, A., Johnson, M., Jones, Mya, Jones, G., Jones, Mark, Jorgenson, A., Judge, J., Kalb, L., Kalmus, T., Kang, S., Kangas, E., Kanne, S., Kaplan, H., Khan, S., Kim, S., Kim, A., Kitaygordsky, A., Klaiman, C., Klever, A., Koene, H., Koomar, T., Koza, M., Kramer, S., Krushena, M., Kurtz-Nelson, E., Lamarche, E., Lampert, E., Lamy, M., Landa, R., Lebron-Cruz, A., Lechniak, H., Lee, S., Leight, B., Lerner, M., Lesher, L., Lewis, C., Li, H., Li, D., Libove, R., Lillie, N., Limon, D., Limpoco, D., Lin, M., Littlefield, S., Lobisi, B., Locarno, L., Long, N., Long, B., Long, K., Lopez, M., Lovering, T., Lozano, I., Lucio, D., Luo, A., Luu, M.-L., Lyon, A., Ma, J., Madi, N., Malloch, L., Mankaryous, R., Manning, P., Mantey, A., Marini, R., Marsden, A., Marwali, C., Marzano, G., Mason, A., Mastel, S., Mathai, S., Matthews, E., Matusoff, E., Maxim, C., McCarthy, C., McClellen, L., Mccoy, N., McCullough, K., McDonald, B., McGalliard, J., McIntyre, A.-M., McKenna, B., McKenzie, A., McTaggart, M., Meinen, H., Melnyk, S., Miceli, A., Michaels, S., Michaelson, J., Milan, E., Miller, M., Milliken, A., Minton, K., Mitchell, T., Gunn, A.M., Mohiuddin, S., Money, G., Montezuma, J., Mooney, L., Moore, M., Morales-Lara, A., Morgan, K., Morotti, H., Morrier, M., Munoz, M., Lavanderos, A.M., Murali, S., Murillo, K., Murray, K., Myhre, E., Neely, J., Neuhaus, E., Newman, O., Nguyen, R., Nguyen, V., Nichols, E., Nicholson, A., Niederhauser, M., Norris, M., Norton, S., Nowell, K., O’Brien, K., O’Meara, M., O’Neil, M., O’Roak, B., Ocampo, E., Ochoa-Lubinoff, C., Oft, A., Orobio, J., Ortiz, C., Ousley, O., Oyeyemi, M., Pacheco, L., Palacios, V., Palmer, S., Palmeri, I., Pama, K., Pandey, J., Paolicelli, A.M., Parker, J., Patterson, M., Pawlowski, K., Pedapati, E., Pepper, M., Perrin, J., Peura, C., Phillips, D., Pierce, K., Piven, J., Plate, J., Polanco, J., Pott-Schmidt, N., Pramparo, T., Pratt, T., Prock, L., White, S.P., Qi, H., Qiu, S., Queen, E., Questel, M., Quinones, A., Rambeck, D., Randall, S., Ranganathan, V., Raymond, L., Rayos, M., Real, K., Rhea, A., Rice, C., Richardson, H., Riffle, S., Robertson, T., Roby, E., Rocha, A., Roche, C., Rodriguez, N., Rodriguez, B., Roeder, K., Rojas, D., Rosewater, J., Rosselott, H., Runyan, P., Russo, N., Rutter, T., Ruzzo, E., Sahin, M., Salem, F., Sanchez, R., Sanders, M., Sanderson, T., Sandhu, S., Sanford, K., Santangelo, S., Santulli, M., Sarver, D., Savage, M., Scherr, J., Schneider, H., Schools, H., Schoonover, G., Schultz, R., Sebolt, C., Shaffer, R., Shameen, S., Sherard, C., Shikov, R., Shillington, A., Shir, M., Shocklee, A., Shrier, C., Shulman, L., Siegel, M., Simon, A., Simon, L., Singh, A., Singh, V., Smalley, D., Smith, K., Smith, C., Smith, A., Soorya, L., Soscia, J., Soucy, A., Stchur, L., Steele, M., Srishyla, D., Stamps, D., Sussman, N., Swanson, A., Sweeney, M., Sziklay, A., Tafolla, M., Taiba, J., Takahashi, N., Terroso, S., Strathearn, C., Thomas, T., Thompson, S., Touchette, E., Townsend, L., Trog, M., Tsai, K., Tseng, A., Tshering, P., Tso, I., Valicenti-Mcdermott, M., VanMetre, B., VanWade, C., Turecki, S., Vargo, K., Vattuone, C., Veenstra-Vanderweele, J., Vehorn, A., Velazquez, A.J.B., Verdi, M., Villalobos, M., Vrittamani, L., Wainer, A., Wallace, J., Walston, C., Wang, J., Ward, A., Warren, Z., Washington, K., Westerkamp, G., White, S., Wink, L., Winoto, F., Winters, S., Wodka, E., Xavier, S., Xu, S., Yang, Y., Yang, W., Yang, A., Yinger, M., Yu, T., Zaro, C., Zha, C., Zhang, H., Zhao, H., Zick, A., Salmon, L.Z., Shen, Y., Volfovsky, N., Hall, J.B., Feliciano, P., Chung, W.K.
TechnologyWES
Variant sourceSupplemental Table 2
CohortsSPARK
Designsimplex
URLhttps://dx.doi.org/https://doi.org/10.1016/j.gim.2024.101202
Pubmed38958063
Subject count1114
The number of subjects for this study could not be determined directly from the variant data; the value given is that reported by the authors in the publication.
Variant event count1128
Curation notesView
Breakdown by exonic function
FunctionVariant Count
frameshift deletion278
frameshift insertion128
nonframeshift deletion8
nonsynonymous SNV301
other15
splicing129
stopgain262
synonymous SNV2
unknown5

What am I looking at?

Summary: Information from the literature piece (e.g. Author, Publisher, DOI) and the study experimental design (e.g. sample size, source of probands, sequencing technology.) For a full list of sources of variants, be sure to check out the publications page. Documentation and description of our work can be found on the help page.

Breakdown by exonic function: We annotated the variants with an effect prediction using ANNOVAR. The functions are categories of variants, such as frameshift variants (i.e. frameshift_elongation (SO:0001909)), loss/gain of stop codon, SNVs and non-frameshift variants. See the full list of possible annotations for exonic variants in the documentation.