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West Ashley Library
9 a.m. - 6 p.m.
Phone: (843) 766-6635
Wando Mount Pleasant Library
9 a.m. - 6 p.m.
Phone: (843) 805-6888
Village Library
9 a.m. - 6 p.m.
Phone: (843) 884-9741
St. Paul's/Hollywood Library
9 a.m. - 6 p.m.
Phone: (843) 889-3300
Otranto Road Library
9 a.m. - 6 p.m.
Phone: (843) 572-4094
Mt. Pleasant Library
9 a.m. - 6 p.m.
Phone: (843) 849-6161
McClellanville Library
9 a.m. - 1 p.m.
Phone: (843) 887-3699
Keith Summey North Charleston Library
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Phone: (843) 744-2489
John's Island Library
9 a.m. - 6 p.m.
Phone: (843) 559-1945
Hurd/St. Andrews Library
9 a.m. - 6 p.m.
Phone: (843) 766-2546
Folly Beach Library
9 a.m. - 1 p.m.
Phone: (843) 588-2001
Dorchester Road Library
9 a.m. - 6 p.m.
Phone: (843) 552-6466
John L. Dart Library
9 a.m. - 6 p.m.
Phone: (843) 722-7550
Bees Ferry West Ashley Library
9 a.m. - 6 p.m.
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Baxter-Patrick James Island
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Miss Jane's Building (Edisto Library Temporary Location)
Closed
Phone: (843) 869-2355
Edgar Allan Poe/Sullivan's Island Library
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Phone: (843) 883-3914
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Cross-Disorder Analysis of De Novo Mutations in Neuropsychiatric Disorders
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- Author(s): Li, Kuokuo; Fang, Zhenghuan; Zhao, Guihu; Li, Bin; Chen, Chao; Xia, Lu; Wang, Lin; Luo, Tengfei; Wang, Xiaomeng; Wang, Zheng; Zhang, Yi; Jiang, Yi; Pan, Qian; Hu, Zhengmao; Guo, Hui; Tang, Beisha; Liu, Chunyu; Sun, Zhongsheng; Xia, Kun; Li, Jinchen (ORCID
Li, Jinchen (ORCID 0000-0003-3335-9303 )- Language:
English- Source:
Journal of Autism and Developmental Disorders. Mar 2022 52(3):1299-1313.- Publication Date:
2022- Document Type:
Journal Articles
Reports - Research - Language:
- Additional Information
- Availability: Springer. Available from: Springer Nature. One New York Plaza, Suite 4600, New York, NY 10004. Tel: 800-777-4643; Tel: 212-460-1500; Fax: 212-460-1700; e-mail: [email protected]; Web site: https://link.springer.com/
- Peer Reviewed: Y
- Source: 15
- Subject Terms:
- Accession Number: 10.1007/s10803-021-05031-7
- ISSN: 0162-3257
- Abstract: The clinical similarity among different neuropsychiatric disorders (NPDs) suggested a shared genetic basis. We catalogued 23,109 coding de novo mutations (DNMs) from 6511 patients with autism spectrum disorder (ASD), 4,293 undiagnosed developmental disorder (UDD), 933 epileptic encephalopathy (EE), 1022 intellectual disability (ID), 1094 schizophrenia (SCZ), and 3391 controls. We evaluated that putative functional DNMs contribute to 38.11%, 34.40%, 33.31%, 10.98% and 6.91% of patients with ID, EE, UDD, ASD and SCZ, respectively. Consistent with phenotype similarity and heterogeneity in different NPDs, they show different degree of genetic association. Cross-disorder analysis of DNMs prioritized 321 candidate genes (FDR < 0.05) and showed that genes shared in more disorders were more likely to exhibited specific expression pattern, functional pathway, genetic convergence, and genetic intolerance.
- Abstract: As Provided
- Publication Date: 2022
- Accession Number: EJ1327235
- Availability:
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