Co-occurrence of rare variants implicates gene pairs in cytoskeletal pathways and is associated with increased severity in autism spectrum disorder.

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Title: Co-occurrence of rare variants implicates gene pairs in cytoskeletal pathways and is associated with increased severity in autism spectrum disorder.
Authors: Lee H; Department of Integrated Biomedical and Life Science, Korea University, Seoul, 02841, Republic of Korea.; L-HOPE Program for Community-Based Total Learning Health Systems, Korea University, Seoul, 02841, Republic of Korea.; National Research Laboratory for Convergence Degradation Biology, Korea University, Seoul, 02841, Republic of Korea., Ko K; Department of Anatomy, Korea University College of Medicine, Seoul, 02841, Republic of Korea., Kim S; Department of Integrated Biomedical and Life Science, Korea University, Seoul, 02841, Republic of Korea.; L-HOPE Program for Community-Based Total Learning Health Systems, Korea University, Seoul, 02841, Republic of Korea., Lee G; Department of Integrated Biomedical and Life Science, Korea University, Seoul, 02841, Republic of Korea.; L-HOPE Program for Community-Based Total Learning Health Systems, Korea University, Seoul, 02841, Republic of Korea., Kim S; Department of Integrated Biomedical and Life Science, Korea University, Seoul, 02841, Republic of Korea.; L-HOPE Program for Community-Based Total Learning Health Systems, Korea University, Seoul, 02841, Republic of Korea.; National Research Laboratory for Convergence Degradation Biology, Korea University, Seoul, 02841, Republic of Korea., Lee J; School of Biosystems and Biomedical Science, College of Health Science, Korea University, Seoul, 02841, Republic of Korea., Song DY; Department of Psychiatry, Seoul National University Bundang Hospital, Seongnam, 13620, Republic of Korea.; Department of Psychiatry, Seoul National University College of Medicine, Seoul, 03080, Republic of Korea., Bong G; Department of Psychiatry, Seoul National University Bundang Hospital, Seongnam, 13620, Republic of Korea., Han JH; Department of Psychiatry, Seoul National University Bundang Hospital, Seongnam, 13620, Republic of Korea.; Department of Psychiatry, Seoul National University College of Medicine, Seoul, 03080, Republic of Korea., Lee J; Department of Psychiatry, Soonchunhyang University Bucheon Hospital, Bucheon-si, Gyeonggi-do, Republic of Korea., Kim YR; Department of Psychiatry, Seoul National University Bundang Hospital, Seongnam, 13620, Republic of Korea.; Department of Psychiatry, Seoul National University College of Medicine, Seoul, 03080, Republic of Korea., Lee Y; Department of Psychiatry, Seoul National University Bundang Hospital, Seongnam, 13620, Republic of Korea.; Department of Psychiatry, Seoul National University College of Medicine, Seoul, 03080, Republic of Korea., Kim E; Department of Biological Sciences, Korea Advanced Institute of Science and Technology, Daejeon, Republic of Korea.; Center for Synaptic Brain Dysfunctions, Institute for Basic Science, Daejeon, Republic of Korea., Børglum AD; The Lundbeck Foundation Initiative for Integrative Psychiatric Research, iPSYCH, Aarhus, Denmark.; Center for Genomics and Personalized Medicine, Aarhus, Denmark.; Department of Biomedicine, Aarhus University, Aarhus, Denmark., Grove J; The Lundbeck Foundation Initiative for Integrative Psychiatric Research, iPSYCH, Aarhus, Denmark.; Center for Genomics and Personalized Medicine, Aarhus, Denmark.; Department of Biomedicine, Aarhus University, Aarhus, Denmark.; Bioinformatics Research Centre, BiRC, Aarhus University, Aarhus, Denmark., Kim SH; School of Psychology, Korea University, Seoul, Republic of Korea., Sun W; Department of Anatomy, Korea University College of Medicine, Seoul, 02841, Republic of Korea., Yoo HJ; Department of Psychiatry, Seoul National University Bundang Hospital, Seongnam, 13620, Republic of Korea. hjyoo@snu.ac.kr.; Department of Psychiatry, Seoul National University College of Medicine, Seoul, 03080, Republic of Korea. hjyoo@snu.ac.kr., An JY; Department of Integrated Biomedical and Life Science, Korea University, Seoul, 02841, Republic of Korea. joonan30@korea.ac.kr.; L-HOPE Program for Community-Based Total Learning Health Systems, Korea University, Seoul, 02841, Republic of Korea. joonan30@korea.ac.kr.; National Research Laboratory for Convergence Degradation Biology, Korea University, Seoul, 02841, Republic of Korea. joonan30@korea.ac.kr.; School of Biosystems and Biomedical Science, College of Health Science, Korea University, Seoul, 02841, Republic of Korea. joonan30@korea.ac.kr.
Source: Genome biology [Genome Biol] 2026 Mar 23; Vol. 27 (1). Date of Electronic Publication: 2026 Mar 23.
Publication Type: Journal Article
Journal Info: Publisher: BioMed Central Ltd Country of Publication: England NLM ID: 100960660 Publication Model: Electronic Cited Medium: Internet ISSN: 1474-760X (Electronic) Linking ISSN: 14747596 NLM ISO Abbreviation: Genome Biol Subsets: MEDLINE
Database: MEDLINE Ultimate
Description
ISSN:1474-760X
DOI:10.1186/s13059-026-04041-x