Genome-wide identification and phenotypic characterization of seizure-associated copy number variations in 741,075 individuals
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DOI: 10.1038/s41467-023-39539-6
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- Haley J. Abel & David E. Larson & Allison A. Regier & Colby Chiang & Indraniel Das & Krishna L. Kanchi & Ryan M. Layer & Benjamin M. Neale & William J. Salerno & Catherine Reeves & Steven Buyske & Tar, 2020. "Mapping and characterization of structural variation in 17,795 human genomes," Nature, Nature, vol. 583(7814), pages 83-89, July.
- Peter H. Sudmant & Tobias Rausch & Eugene J. Gardner & Robert E. Handsaker & Alexej Abyzov & John Huddleston & Yan Zhang & Kai Ye & Goo Jun & Markus Hsi-Yang Fritz & Miriam K. Konkel & Ankit Malhotra , 2015. "An integrated map of structural variation in 2,504 human genomes," Nature, Nature, vol. 526(7571), pages 75-81, October.
- Ryan L. Collins & Harrison Brand & Konrad J. Karczewski & Xuefang Zhao & Jessica Alföldi & Laurent C. Francioli & Amit V. Khera & Chelsea Lowther & Laura D. Gauthier & Harold Wang & Nicholas A. Watts , 2020. "A structural variation reference for medical and population genetics," Nature, Nature, vol. 581(7809), pages 444-451, May.
- Christelle Golzio & Jason Willer & Michael E. Talkowski & Edwin C. Oh & Yu Taniguchi & Sébastien Jacquemont & Alexandre Reymond & Mei Sun & Akira Sawa & James F. Gusella & Atsushi Kamiya & Jacques S. , 2012. "KCTD13 is a major driver of mirrored neuroanatomical phenotypes of the 16p11.2 copy number variant," Nature, Nature, vol. 485(7398), pages 363-367, May.
- Jie Chen & Yuhui Ou & Yanyan Yang & Wen Li & Ye Xu & Yuntao Xie & Ying Liu, 2018. "KLHL22 activates amino-acid-dependent mTORC1 signalling to promote tumorigenesis and ageing," Nature, Nature, vol. 557(7706), pages 585-589, May.
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