Genome-wide rare variant score associates with morphological subtypes of autism spectrum disorder
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DOI: 10.1038/s41467-022-34112-z
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- Monkol Lek & Konrad J. Karczewski & Eric V. Minikel & Kaitlin E. Samocha & Eric Banks & Timothy Fennell & Anne H. O’Donnell-Luria & James S. Ware & Andrew J. Hill & Beryl B. Cummings & Taru Tukiainen , 2016. "Analysis of protein-coding genetic variation in 60,706 humans," Nature, Nature, vol. 536(7616), pages 285-291, August.
- Adam E. Locke & Bratati Kahali & Sonja I. Berndt & Anne E. Justice & Tune H. Pers & Felix R. Day & Corey Powell & Sailaja Vedantam & Martin L. Buchkovich & Jian Yang & Damien C. Croteau-Chonka & Tonu , 2015. "Genetic studies of body mass index yield new insights for obesity biology," Nature, Nature, vol. 518(7538), pages 197-206, February.
- Jesse R. Dixon & Siddarth Selvaraj & Feng Yue & Audrey Kim & Yan Li & Yin Shen & Ming Hu & Jun S. Liu & Bing Ren, 2012. "Topological domains in mammalian genomes identified by analysis of chromatin interactions," Nature, Nature, vol. 485(7398), pages 376-380, May.
- Michael J. Hawrylycz & Ed S. Lein & Angela L. Guillozet-Bongaarts & Elaine H. Shen & Lydia Ng & Jeremy A. Miller & Louie N. van de Lagemaat & Kimberly A. Smith & Amanda Ebbert & Zackery L. Riley & Chr, 2012. "An anatomically comprehensive atlas of the adult human brain transcriptome," Nature, Nature, vol. 489(7416), pages 391-399, September.
- Joanna Kaplanis & Kaitlin E. Samocha & Laurens Wiel & Zhancheng Zhang & Kevin J. Arvai & Ruth Y. Eberhardt & Giuseppe Gallone & Stefan H. Lelieveld & Hilary C. Martin & Jeremy F. McRae & Patrick J. Sh, 2020. "Evidence for 28 genetic disorders discovered by combining healthcare and research data," Nature, Nature, vol. 586(7831), pages 757-762, October.
- Konrad J. Karczewski & Laurent C. Francioli & Grace Tiao & Beryl B. Cummings & Jessica Alföldi & Qingbo Wang & Ryan L. Collins & Kristen M. Laricchia & Andrea Ganna & Daniel P. Birnbaum & Laura D. Gau, 2020. "The mutational constraint spectrum quantified from variation in 141,456 humans," Nature, Nature, vol. 581(7809), pages 434-443, May.
- Ivan Iossifov & Brian J. O’Roak & Stephan J. Sanders & Michael Ronemus & Niklas Krumm & Dan Levy & Holly A. Stessman & Kali T. Witherspoon & Laura Vives & Karynne E. Patterson & Joshua D. Smith & Brya, 2014. "The contribution of de novo coding mutations to autism spectrum disorder," Nature, Nature, vol. 515(7526), pages 216-221, November.
- Brett Trost & Worrawat Engchuan & Charlotte M. Nguyen & Bhooma Thiruvahindrapuram & Egor Dolzhenko & Ian Backstrom & Mila Mirceta & Bahareh A. Mojarad & Yue Yin & Alona Dov & Induja Chandrakumar & Tan, 2020. "Genome-wide detection of tandem DNA repeats that are expanded in autism," Nature, Nature, vol. 586(7827), pages 80-86, October.
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