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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Genome-wide tandem repeat expansions contribute to schizophrenia risk von Mojarad, Bahareh A., Engchuan, Worrawat, Trost, Brett, Backstrom, Ian, Yin, Yue, Thiruvahindrapuram, Bhooma, Pallotto, Linda, Mitina, Aleksandra, Khan, Mahreen, Pellecchia, Giovanna, Haque, Bushra, Guo, Keyi, Heung, Tracy, Costain, Gregory, Scherer, Stephen W., Marshall, Christian R., Pearson, Christopher E., Bassett, Anne S., Yuen, Ryan K. C.

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The Database of Genomic Variants: a curated collection of structural variation in the human genome von MacDonald, Jeffrey R, Ziman, Robert, Yuen, Ryan K C, Feuk, Lars, Scherer, Stephen W

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Genomic imbalances in the placenta are associated with poor fetal growth von Del Gobbo, Giulia F, Yin, Yue, Choufani, Sanaa, Butcher, Emma A, Wei, John, Rajcan-Separovic, Evica, Bos, Hayley, von Dadelszen, Peter, Weksberg, Rosanna, Robinson, Wendy P, Yuen, Ryan K C

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Polygenic risk for triglyceride levels in the presence of a high impact rare variant von Ying, Shengjie, Heung, Tracy, Thiruvahindrapuram, Bhooma, Engchuan, Worrawat, Yin, Yue, Blagojevic, Christina, Zhang, Zhaolei, Hegele, Robert A, Yuen, Ryan K. C, Bassett, Anne S

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Correction: Polygenic risk for triglyceride levels in the presence of a high impact rare variant von Ying, Shengjie, Heung, Tracy, Thiruvahindrapuram, Bhooma, Engchuan, Worrawat, Yin, Yue, Blagojevic, Christina, Zhang, Zhaolei, Hegele, Robert A, Yuen, Ryan K. C, Bassett, Anne S

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Rare and low frequency genomic variants impacting neuronal functions modify the Dup7q11.23 phenotype von Qaiser, Farah, Yin, Yue, Mervis, Carolyn B, Morris, Colleen A, Klein-Tasman, Bonita P, Tam, Elaine, Osborne, Lucy R, Yuen, Ryan K C

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Molecular Diagnostic Yield of Chromosomal Microarray Analysis and Whole-Exome Sequencing in Children With Autism Spectrum Disorder von Tammimies, Kristiina, Marshall, Christian R, Walker, Susan, Kaur, Gaganjot, Thiruvahindrapuram, Bhooma, Lionel, Anath C, Yuen, Ryan K. C, Uddin, Mohammed, Roberts, Wendy, Weksberg, Rosanna, Woodbury-Smith, Marc, Zwaigenbaum, Lonnie, Anagnostou, Evdokia, Wang, Zhuozhi, Wei, John, Howe, Jennifer L, Gazzellone, Matthew J, Lau, Lynette, Sung, Wilson W. L, Whitten, Kathy, Vardy, Cathy, Crosbie, Victoria, Tsang, Brian, D’Abate, Lia, Tong, Winnie W. L, Luscombe, Sandra, Doyle, Tyna, Carter, Melissa T, Szatmari, Peter, Stuckless, Susan, Merico, Daniele, Stavropoulos, Dimitri J, Scherer, Stephen W, Fernandez, Bridget A

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The human splicing code reveals new insights into the genetic determinants of disease von Xiong, Hui Y., Alipanahi, Babak, Lee, Leo J., Bretschneider, Hannes, Merico, Daniele, Yuen, Ryan K. C., Hua, Yimin, Gueroussov, Serge, Najafabadi, Hamed S., Hughes, Timothy R., Morris, Quaid, Barash, Yoseph, Krainer, Adrian R., Jojic, Nebojsa, Scherer, Stephen W., Blencowe, Benjamin J., Frey, Brendan J.

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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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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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Mutations in RAB39B in individuals with intellectual disability, autism spectrum disorder, and macrocephaly von Woodbury-Smith, Marc, Deneault, Eric, Yuen, Ryan K C, Walker, Susan, Zarrei, Mehdi, Pellecchia, Giovanna, Howe, Jennifer L, Hoang, Ny, Uddin, Mohammed, Marshall, Christian R, Chrysler, Christina, Thompson, Ann, Szatmari, Peter, Scherer, Stephen W

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Human placental-specific epipolymorphism and its association with adverse pregnancy outcomes von Yuen, Ryan K C, Avila, Luana, Peñaherrera, Maria S, von Dadelszen, Peter, Lefebvre, Louis, Kobor, Michael S, Robinson, Wendy P

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Widespread DNA hypomethylation at gene enhancer regions in placentas associated with early-onset pre-eclampsia von Blair, John D, Yuen, Ryan K C, Lim, Brendan K, McFadden, Deborah E, von Dadelszen, Peter, Robinson, Wendy P

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A genome-wide linkage study of autism spectrum disorder and the broad autism phenotype in extended pedigrees von Woodbury-Smith, Marc, Paterson, Andrew D, O'Connor, Irene, Zarrei, Mehdi, Yuen, Ryan K C, Howe, Jennifer L, Thompson, Ann, Parlier, Morgan, Fernandez, Bridget, Piven, Joseph, Scherer, Stephen W, Vieland, Veronica, Szatmari, Peter

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Rare tandem repeat expansions associate with genes involved in synaptic and neuronal signaling functions in schizophrenia von Wen, Jia, Trost, Brett, Engchuan, Worrawat, Halvorsen, Matthew, Pallotto, Linda M., Mitina, Aleksandra, Ancalade, NaEshia, Farrell, Martilias, Backstrom, Ian, Guo, Keyi, Pellecchia, Giovanna, Thiruvahindrapuram, Bhooma, Giusti-Rodriguez, Paola, Rosen, Jonathan David, Li, Yun, Won, Hyejung, Magnusson, Patrik K. E., Gyllensten, Ulf, Bassett, Anne S., Hultman, Christina M., Sullivan, Patrick F., Yuen, Ryan K. C., Szatkiewicz, Jin P.

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Compound heterozygous mutations in the noncoding RNU4ATAC cause Roifman Syndrome by disrupting minor intron splicing von Merico, Daniele, Roifman, Maian, Braunschweig, Ulrich, Yuen, Ryan K. C., Alexandrova, Roumiana, Bates, Andrea, Reid, Brenda, Nalpathamkalam, Thomas, Wang, Zhuozhi, Thiruvahindrapuram, Bhooma, Gray, Paul, Kakakios, Alyson, Peake, Jane, Hogarth, Stephanie, Manson, David, Buncic, Raymond, Pereira, Sergio L., Herbrick, Jo-Anne, Blencowe, Benjamin J., Roifman, Chaim M., Scherer, Stephen W.

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Using extended pedigrees to identify novel autism spectrum disorder (ASD) candidate genes von Woodbury-Smith, Marc, Paterson, Andrew D., Thiruvahindrapduram, Bhooma, Lionel, Anath C., Marshall, Christian R., Merico, Daniele, Fernandez, Bridget A., Duku, Eric, Sutcliffe, James S., O’Conner, Irene, Chrysler, Christina, Thompson, Ann, Kellam, Barbara, Tammimies, Kristiina, Walker, Susan, Yuen, Ryan K. C., Uddin, Mohammed, Howe, Jennifer L., Parlier, Morgan, Whitten, Kathy, Szatmari, Peter, Vieland, Veronica J., Piven, Joseph, Scherer, Stephen W.

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Schizophrenia Risk Mediated by microRNA Target Genes Overlapped by Genome-Wide Rare Copy Number Variation in 22q11.2 Deletion Syndrome von Ying, Shengjie, Heung, Tracy, Zhang, Zhaolei, Yuen, Ryan K C, Bassett, Anne S

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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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