COLLABORATIVE STUDY OF THE COMBINED EFFECTS OF RARE CNVS AND POLYGENIC RISK ON PSYCHIATRIC TRAITS von Sacks, Molly, Klein, Marieke, Shanta, Omar, Ahangari, Mohammad, Hong, Oanh, MacDonald, Jeff, Thiruvahindrapuram, Bhooma, Jacquemont, Sebastien, Bigdeli, Tim, Oetjens, Matthew, Kals, Mart, Scherer, Stephen H., Sebat, Jonathan

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F57. INVESTIGATION OF THE SEX CHROMOSOMES IN AUTISM SPECTRUM DISORDER von de Aquino, Marla Mendes, Engchuan, Worrawat, Thiruvahindrapuram, Bhooma, McKee, Ethan A., Trost, Brett, Alexandrova, Roumiana, Leal, Thiago Peixoto, Li, Weili, Scherer, Stephen H.

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Inconsistent definitions for intention-to-treat in relation to missing outcome data: systematic review of the methods literature von Alshurafa, Mohamad, Briel, Matthias, Akl, Elie A, Haines, Ted, Moayyedi, Paul, Gentles, Stephen J, Rios, Lorena, Tran, Chau, Bhatnagar, Neera, Lamontagne, Francois, Walter, Stephen D, Guyatt, Gordon H

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Detection of Clinically Relevant Genetic Variants in Autism Spectrum Disorder by Whole-Genome Sequencing von Jiang, Yong-hui, Yuen, Ryan K.C., Jin, Xin, Wang, Mingbang, Chen, Nong, Wu, Xueli, Ju, Jia, Mei, Junpu, Shi, Yujian, He, Mingze, Wang, Guangbiao, Liang, Jieqin, Wang, Zhe, Cao, Dandan, Carter, Melissa T., Chrysler, Christina, Drmic, Irene E., Howe, Jennifer L., Lau, Lynette, Marshall, Christian R., Merico, Daniele, Nalpathamkalam, Thomas, Thiruvahindrapuram, Bhooma, Thompson, Ann, Uddin, Mohammed, Walker, Susan, Luo, Jun, Anagnostou, Evdokia, Zwaigenbaum, Lonnie, Ring, Robert H., Wang, Jian, Lajonchere, Clara, Wang, Jun, Shih, Andy, Szatmari, Peter, Yang, Huanming, Dawson, Geraldine, Li, Yingrui, Scherer, Stephen W.

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Altered TAOK2 activity causes autism-related neurodevelopmental and cognitive abnormalities through RhoA signaling von Richter, Melanie, Murtaza, Nadeem, Scharrenberg, Robin, White, Sean H., Johanns, Ole, Walker, Susan, Yuen, Ryan K. C., Schwanke, Birgit, Bedürftig, Bianca, Henis, Melad, Scharf, Sarah, Kraus, Vanessa, Dörk, Ronja, Hellmann, Jakob, Lindenmaier, Zsuzsa, Ellegood, Jacob, Hartung, Henrike, Kwan, Vickie, Sedlacik, Jan, Fiehler, Jens, Schweizer, Michaela, Lerch, Jason P., Hanganu-Opatz, Ileana L., Morellini, Fabio, Scherer, Stephen W., Singh, Karun K., Calderon de Anda, Froylan

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Copy-number variations associated with neuropsychiatric conditions von Scherer, Stephen W, Cook Jr, Edwin H

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A framework for an evidence-based gene list relevant to autism spectrum disorder von Schaaf, Christian P., Betancur, Catalina, Yuen, Ryan K. C., Parr, Jeremy R., Skuse, David H., Gallagher, Louise, Bernier, Raphael A., Buchanan, Janet A., Buxbaum, Joseph D., Chen, Chun-An, Dies, Kira A., Elsabbagh, Mayada, Firth, Helen V., Frazier, Thomas, Hoang, Ny, Howe, Jennifer, Marshall, Christian R., Michaud, Jacques L., Rennie, Olivia, Szatmari, Peter, Chung, Wendy K., Bolton, Patrick F., Cook, Edwin H., Scherer, Stephen W., Vorstman, Jacob A. S.

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ExpansionHunter Denovo: a computational method for locating known and novel repeat expansions in short-read sequencing data von Dolzhenko, Egor, Bennett, Mark F, Richmond, Phillip A, Trost, Brett, Chen, Sai, van Vugt, Joke J F A, Nguyen, Charlotte, Narzisi, Giuseppe, Gainullin, Vladimir G, Gross, Andrew M, Lajoie, Bryan R, Taft, Ryan J, Wasserman, Wyeth W, Scherer, Stephen W, Veldink, Jan H, Bentley, David R, Yuen, Ryan K C, Bahlo, Melanie, Eberle, Michael A

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Whole-genome sequencing of quartet families with autism spectrum disorder von Yuen, Ryan K C, Thiruvahindrapuram, Bhooma, Merico, Daniele, Walker, Susan, Tammimies, Kristiina, Hoang, Ny, Chrysler, Christina, Nalpathamkalam, Thomas, Pellecchia, Giovanna, Liu, Yi, Gazzellone, Matthew J, D'Abate, Lia, Deneault, Eric, Howe, Jennifer L, Liu, Richard S C, Thompson, Ann, Zarrei, Mehdi, Uddin, Mohammed, Marshall, Christian R, Ring, Robert H, Zwaigenbaum, Lonnie, Ray, Peter N, Weksberg, Rosanna, Carter, Melissa T, Fernandez, Bridget A, Roberts, Wendy, Szatmari, Peter, Scherer, Stephen W

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Meta-analysis and multidisciplinary consensus statement: exome sequencing is a first-tier clinical diagnostic test for individuals with neurodevelopmental disorders von Srivastava, Siddharth, Love-Nichols, Jamie A., Dies, Kira A., Ledbetter, David H., Martin, Christa L., Chung, Wendy K., Firth, Helen V., Frazier, Thomas, Hansen, Robin L., Prock, Lisa, Brunner, Han, Hoang, Ny, Scherer, Stephen W., Sahin, Mustafa, Miller, David T.

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Chromosomal-level reference genome assembly of muskox (Ovibos moschatus) from Banks Island in the Canadian Arctic, a resource for conservation genomics von Lok, Si, Lau, Timothy N. H., Trost, Brett, Tong, Amy H. Y., Paton, Tara, Wintle, Richard F., Engstrom, Mark D., Gunn, Anne, Scherer, Stephen W.

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Germline Mutation of RPS20 , Encoding a Ribosomal Protein, Causes Predisposition to Hereditary Nonpolyposis Colorectal Carcinoma Without DNA Mismatch Repair Deficiency von Nieminen, Taina T, O’Donohue, Marie-Françoise, Wu, Yunpeng, Lohi, Hannes, Scherer, Stephen W, Paterson, Andrew D, Ellonen, Pekka, Abdel-Rahman, Wael M, Valo, Satu, Mecklin, Jukka-Pekka, Järvinen, Heikki J, Gleizes, Pierre-Emmanuel, Peltomäki, Päivi

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Genome-wide rare variant score associates with morphological subtypes of autism spectrum disorder von Chan, Ada J. S., Engchuan, Worrawat, Reuter, Miriam S., Wang, Zhuozhi, Thiruvahindrapuram, Bhooma, Trost, Brett, Nalpathamkalam, Thomas, Negrijn, Carol, Lamoureux, Sylvia, Pellecchia, Giovanna, Patel, Rohan V., Sung, Wilson W. L., MacDonald, Jeffrey R., Howe, Jennifer L., Vorstman, Jacob, Sondheimer, Neal, Takahashi, Nicole, Miles, Judith H., Anagnostou, Evdokia, Tammimies, Kristiina, Zarrei, Mehdi, Merico, Daniele, Stavropoulos, Dimitri J., Yuen, Ryan K. C., Fernandez, Bridget A., Scherer, Stephen W.

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Copy number variation: new insights in genome diversity von Freeman, Jennifer L, Perry, George H, Feuk, Lars, Redon, Richard, McCarroll, Steven A, Altshuler, David M, Aburatani, Hiroyuki, Jones, Keith W, Tyler-Smith, Chris, Hurles, Matthew E, Carter, Nigel P, Scherer, Stephen W, Lee, Charles

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Consensus Statement: Chromosomal Microarray Is a First-Tier Clinical Diagnostic Test for Individuals with Developmental Disabilities or Congenital Anomalies von Miller, David T., Adam, Margaret P., Aradhya, Swaroop, Biesecker, Leslie G., Brothman, Arthur R., Carter, Nigel P., Church, Deanna M., Crolla, John A., Eichler, Evan E., Epstein, Charles J., Faucett, W. Andrew, Feuk, Lars, Friedman, Jan M., Hamosh, Ada, Jackson, Laird, Kaminsky, Erin B., Kok, Klaas, Krantz, Ian D., Kuhn, Robert M., Lee, Charles, Ostell, James M., Rosenberg, Carla, Scherer, Stephen W., Spinner, Nancy B., Stavropoulos, Dimitri J., Tepperberg, James H., Thorland, Erik C., Vermeesch, Joris R., Waggoner, Darrel J., Watson, Michael S., Martin, Christa Lese, Ledbetter, David H.

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Complete Disruption of Autism-Susceptibility Genes by Gene Editing Predominantly Reduces Functional Connectivity of Isogenic Human Neurons von Deneault, Eric, White, Sean H., Rodrigues, Deivid C., Ross, P. Joel, Faheem, Muhammad, Zaslavsky, Kirill, Wang, Zhuozhi, Alexandrova, Roumiana, Pellecchia, Giovanna, Wei, Wei, Piekna, Alina, Kaur, Gaganjot, Howe, Jennifer L., Kwan, Vickie, Thiruvahindrapuram, Bhooma, Walker, Susan, Lionel, Anath C., Pasceri, Peter, Merico, Daniele, Yuen, Ryan K.C., Singh, Karun K., Ellis, James, Scherer, Stephen W.

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Global variation in copy number in the human genome von Scherer, Stephen W, Hurles, Matthew E, Redon, Richard, Ishikawa, Shumpei, Fitch, Karen R, Feuk, Lars, Perry, George H, Andrews, T. Daniel, Fiegler, Heike, Shapero, Michael H, Carson, Andrew R, Chen, Wenwei, Cho, Eun Kyung, Dallaire, Stephanie, Freeman, Jennifer L, González, Juan R, Gratacòs, Mònica, Huang, Jing, Kalaitzopoulos, Dimitrios, Komura, Daisuke, MacDonald, Jeffrey R, Marshall, Christian R, Mei, Rui, Montgomery, Lyndal, Nishimura, Kunihiro, Okamura, Kohji, Shen, Fan, Somerville, Martin J, Tchinda, Joelle, Valsesia, Armand, Woodwark, Cara, Yang, Fengtang, Zhang, Junjun, Zerjal, Tatiana, Zhang, Jane, Armengol, Lluis, Conrad, Donald F, Estivill, Xavier, Tyler-Smith, Chris, Carter, Nigel P, Aburatani, Hiroyuki, Lee, Charles, Jones, Keith W

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Three-dimensional optical trapping and orientation of microparticles for coherent X-ray diffraction imaging von Gao, Yuan, Harder, Ross, Southworth, Stephen H., Guest, Jeffrey R., Huang, Xiaojing, Yane, Zijie, Ocola, Leonidas E., Yifat, Yuval, Sule, Nishant, Ho, Phay J., Pelton, Matthew, Scherer, Norbert F., Young, Linda

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Antibody Persistence through 6 Months after the Second Dose of mRNA-1273 Vaccine for Covid-19 von Doria-Rose, Nicole, Suthar, Mehul S, Makowski, Mat, O’Connell, Sarah, McDermott, Adrian B, Flach, Britta, Ledgerwood, Julie E, Mascola, John R, Graham, Barney S, Lin, Bob C, O’Dell, Sijy, Schmidt, Stephen D, Widge, Alicia T, Edara, Venkata-Viswanadh, Anderson, Evan J, Lai, Lilin, Floyd, Katharine, Rouphael, Nadine G, Zarnitsyna, Veronika, Roberts, Paul C, Makhene, Mamodikoe, Buchanan, Wendy, Luke, Catherine J, Beigel, John H, Jackson, Lisa A, Neuzil, Kathleen M, Bennett, Hamilton, Leav, Brett, Albert, Jim, Kunwar, Pratap

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CNTN5 - /+ or EHMT2 - /+ human iPSC-derived neurons from individuals with autism develop hyperactive neuronal networks von Deneault, Eric, Faheem, Muhammad, White, Sean H, Rodrigues, Deivid C, Sun, Song, Wei, Wei, Piekna, Alina, Thompson, Tadeo, Howe, Jennifer L, Chalil, Leon, Kwan, Vickie, Walker, Susan, Pasceri, Peter, Roth, Frederick P, Yuen, Ryan Kc, Singh, Karun K, Ellis, James, Scherer, Stephen W

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