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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
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  Data: 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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  Data: <searchLink fieldCode="AU" term="%22Lee+H%22">Lee H</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Ko+K%22">Ko K</searchLink>; Department of Anatomy, Korea University College of Medicine, Seoul, 02841, Republic of Korea.<br /><searchLink fieldCode="AU" term="%22Kim+S%22">Kim S</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Lee+G%22">Lee G</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Kim+S%22">Kim S</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Lee+J%22">Lee J</searchLink>; School of Biosystems and Biomedical Science, College of Health Science, Korea University, Seoul, 02841, Republic of Korea.<br /><searchLink fieldCode="AU" term="%22Song+DY%22">Song DY</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Bong+G%22">Bong G</searchLink>; Department of Psychiatry, Seoul National University Bundang Hospital, Seongnam, 13620, Republic of Korea.<br /><searchLink fieldCode="AU" term="%22Han+JH%22">Han JH</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Lee+J%22">Lee J</searchLink>; Department of Psychiatry, Soonchunhyang University Bucheon Hospital, Bucheon-si, Gyeonggi-do, Republic of Korea.<br /><searchLink fieldCode="AU" term="%22Kim+YR%22">Kim YR</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Lee+Y%22">Lee Y</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Kim+E%22">Kim E</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Børglum+AD%22">Børglum AD</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Grove+J%22">Grove J</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Kim+SH%22">Kim SH</searchLink>; School of Psychology, Korea University, Seoul, Republic of Korea.<br /><searchLink fieldCode="AU" term="%22Sun+W%22">Sun W</searchLink>; Department of Anatomy, Korea University College of Medicine, Seoul, 02841, Republic of Korea.<br /><searchLink fieldCode="AU" term="%22Yoo+HJ%22">Yoo HJ</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22An+JY%22">An JY</searchLink>; 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.
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  Data: <searchLink fieldCode="JN" term="%22100960660%22">Genome biology</searchLink> [Genome Biol] 2026 Mar 23; Vol. 27 (1). <i>Date of Electronic Publication: </i>2026 Mar 23.
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22BioMed+Central+Ltd%22">BioMed Central Ltd </searchLink><i>Country of Publication: </i>England <i>NLM ID: </i>100960660 <i>Publication Model: </i>Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1474-760X (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2214747596%22">14747596 </searchLink><i>NLM ISO Abbreviation: </i>Genome Biol <i>Subsets: </i>MEDLINE
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