Human Genome Epidemiology Literature Finder
Records 1 - 30 (of 45 Records) |
Query Trace: SHANK3[original query] |
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Copy number variation analysis in adults with catatonia confirms haploinsufficiency of SHANK3 as a predisposing factor. European journal of medical genetics 2016 Aug . Breckpot Jeroen, Vercruyssen Marieke, Weyts Eddy, Vandevoort Sean, D'Haenens Greet, Van Buggenhout Griet, Leempoels Lore, Brischoux-Boucher Elise, Van Maldergem Lionel, Renieri Alessandra, Mencarelli Maria Antonietta, D'Angelo Carla, Mericq Veronica, Hoffer Mariette J, Tauber Maithé, Castiglioni Claudia, Brison Nathalie, Vermeesch Joris R, Danckaerts Marina, Sienaert Pascal, Devriendt Koenraad, Vogels Anni |
Evaluating the association between the SHANK3 gene and bipolar disorder. Psychiatry research 2016 Aug 244 284-288. Zhang Chen, Wu Zhiguo, Hong Wu, Peng Daihui, Fang Yi |
Investigation of SHANK3 in schizophrenia. American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2017 Mar . de Sena Cortabitarte Ana, Degenhardt Franziska, Strohmaier Jana, Lang Maren, Weiss Birgit, Roeth Ralph, Giegling Ina, Heilmann-Heimbach Stefanie, Hofmann Andrea, Rujescu Dan, Fischer Christine, Rietschel Marcella, Nöthen Markus M, Rappold Gudrun A, Berkel Simo |
Genome-wide copy number variation analysis in a Chinese autism spectrum disorder cohort. Scientific reports 2017 Mar 7 44155. Guo Hui, Peng Yu, Hu Zhengmao, Li Ying, Xun Guanglei, Ou Jianjun, Sun Liangdan, Xiong Zhimin, Liu Yanling, Wang Tianyun, Chen Jingjing, Xia Lu, Bai Ting, Shen Yidong, Tian Qi, Hu Yiqiao, Shen Lu, Zhao Rongjuan, Zhang Xuejun, Zhang Fengyu, Zhao Jingping, Zou Xiaobing, Xia K |
Association between SHANK3 polymorphisms and susceptibility to autism spectrum disorder. Gene 2018 Feb . Qiu Shuang, Li Yan, Li Yong, Zhong Weijing, Shi Meijuan, Zhao Qian, Zhang Kaixin, Wang Yihan, Lu Meihan, Zhu Xiaojuan, Jiang Huiyi, Yu Yaqin, Cheng Yi, Liu Yaw |
Genetic Diagnostic Evaluation of Trio-Based Whole Exome Sequencing Among Children With Diagnosed or Suspected Autism Spectrum Disorder. Frontiers in genetics 2018 9 594. Du Xiujuan, Gao Xueren, Liu Xin, Shen Lixiao, Wang Kai, Fan Yanjie, Sun Yu, Luo Xiaomei, Liu Huili, Wang Lili, Wang Yu, Gong Zhuwen, Wang Jianguo, Yu Yongguo, Li F |
Genotype and phenotype correlations for SHANK3 de novo mutations in neurodevelopmental disorders. American journal of medical genetics. Part A 2018 12 176 (12): 2668-2676. Li Ying, Jia Xiangbin, Wu Huidan, Xun Guanglei, Ou Jianjun, Zhang Qiumeng, Li Honghui, Bai Ting, Hu Zhengmao, Zou Xiaobing, Xia Kun, Guo H |
Targeted resequencing of 358 candidate genes for autism spectrum disorder in a Chinese cohort reveals diagnostic potential and genotype-phenotype correlations. Human mutation 2019 Feb . Zhou Wei-Zhen, Zhang Jie, Li Ziyi, Lin Xiaojing, Li Jiarui, Wang Sheng, Yang Changhong, Wu Qixi, Ye Adam Yongxin, Wang Meng, Wang Dandan, Pu Tad Zhengzhang, Wu Yu-Yu, Wei Lipi |
Meta-Analyses Support Previous and Novel Autism Candidate Genes: Outcomes of an Unexplored Brazilian Cohort. Autism research : official journal of the International Society for Autism Research 2019 Nov . da Silva Montenegro Eduarda Morgana, Costa Claudia Samogy, Campos Gabriele, Scliar Marília, de Almeida Tatiana Ferreira, Zachi Elaine Cristina, Silva Isabela Maya Wahys, Chan Ada J S, Zarrei Mehdi, Lourenço Naila C V, Yamamoto Guilherme Lopes, Scherer Stephen, Passos-Bueno Maria Ri |
SHANK1 polymorphisms and SNP-SNP interactions among SHANK family: A possible cue for recognition to autism spectrum disorder in infant age. Autism research : official journal of the International Society for Autism Research 2019 Jan . Qiu Shuang, Li Yan, Bai Ye, Shi Jikang, Cui Heran, Gu Yulu, Ren Yaxuan, Zhao Qian, Zhang Kaixin, Lu Meihan, Wang Yihan, Li Yong, Zhong Weijing, Zhu Xiaojuan, Liu Yunkai, Cheng Yi, Qiao Yichun, Liu Yaw |
[Genetic study of a child with developmental delay and mental retardation]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2020 8 37 (8): 867-870. Zhang Jianlin, Zhang Junrong, Yang Yimei, Wang Shanshan, Yao Feng, Zhang Yuqu |
[Prenatal genetic analysis of three fetuses with abnormalities of chromosome 22]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2020 3 37 (4): 405-409. Ge Yunsheng, Zhang Jian, Cai Meijiao, Chen Xiaolu, Zhou Yul |
A 29 Mainland Chinese cohort of patients with Phelan-McDermid syndrome: genotype-phenotype correlations and the role of SHANK3 haploinsufficiency in the important phenotypes. Orphanet journal of rare diseases 2020 12 15 (1): 335. Xu Na, Lv Hui, Yang Tingting, Du Xiujuan, Sun Yu, Xiao Bing, Fan Yanjie, Luo Xiaomei, Zhan Yongkun, Wang Lili, Li Fei, Yu Yongg |
Rare variations in the SHANK3 gene confers susceptibility to schizophrenia in Uygur Chinese population. Schizophrenia research 2020 11 228 597-599. Zhang Han, Wang Dong, Chen Jianhua, Wang Yonggang, Yi Qizhong, Shi Yongyo |
Strong evidence for genotype-phenotype correlations in Phelan-McDermid syndrome: results from the developmental synaptopathies consortium. Human molecular genetics 2021 9 31 (4): 625-637. Levy Tess, Foss-Feig Jennifer H, Betancur Catalina, Siper Paige M, Trelles-Thorne Maria Del Pilar, Halpern Danielle, Frank Yitzchak, Lozano Reymundo, Layton Christina, Britvan Bari, Bernstein Jonathan A, Buxbaum Joseph D, Berry-Kravis Elizabeth, Powell Craig M, Srivastava Siddharth, Sahin Mustafa, Soorya Latha, Thurm Audrey, Kolevzon Alexander, |
Sensory Reactivity Phenotype in Phelan-McDermid Syndrome Is Distinct from Idiopathic ASD. Genes 2021 Jun 12 (7): . Tavassoli Teresa, Layton Christina, Levy Tess, Rowe Mikaela, George-Jones Julia, Zweifach Jessica, Lurie Stacey, Buxbaum Joseph D, Kolevzon Alexander, Siper Paige |
Association of SHANK3 Gene Polymorphism and Parkinson Disease in the North of Iran. Basic and clinical neuroscience 2021 5 12 (1): 57-62. Mizban Nahid, Vousooghi Nasim, Mizban Nasr |
Genetic Overlap Between Attention Deficit/Hyperactivity Disorder and Autism Spectrum Disorder in SHANK2 Gene. Frontiers in neuroscience 2021 5 15 649588. Ma Suk-Ling, Chen Lu Hua, Lee Chi-Chiu, Lai Kelly Y C, Hung Se-Fong, Tang Chun-Pan, Ho Ting-Pong, Shea Caroline, Mo Flora, Mak Timothy S H, Sham Pak-Chung, Leung Patrick W |
Sleep Duration in Mouse Models of Neurodevelopmental Disorders. Brain sciences 2021 1 11 (1): . Saré Rachel Michelle, Lemons Abigail, Song Alex, Smith Carolyn Bee |
Evaluation of candidate genes in a Chinese cohort of atypical Rolandic epilepsy. Epileptic disorders : international epilepsy journal with videotape 2021 Jul . Hu Xiaoyue, Tang Jihong, Hua Ying, Wang Yanping, Huang Ji |
Integrating de novo and inherited variants in 42,607 autism cases identifies mutations in new moderate-risk genes. Nature genetics 2022 Sep 54 (9): 1305-1319. Zhou Xueya, Feliciano Pamela, Shu Chang, Wang Tianyun, Astrovskaya Irina, Hall Jacob B, Obiajulu Joseph U, Wright Jessica R, Murali Shwetha C, Xu Simon Xuming, Brueggeman Leo, Thomas Taylor R, Marchenko Olena, Fleisch Christopher, Barns Sarah D, Snyder LeeAnne Green, Han Bing, Chang Timothy S, Turner Tychele N, Harvey William T, Nishida Andrew, O'Roak Brian J, Geschwind Daniel H, , Michaelson Jacob J, Volfovsky Natalia, Eichler Evan E, Shen Yufeng, Chung Wendy |
SHANK3 genetic polymorphism and susceptibility to ASD: evidence from molecular, in silico, and meta-analysis approaches. Molecular biology reports 2022 Jul . Siddiqua Hafsa, Akter Yasmin, Uddin Md Nasir, Kumkum Mahadia, Hossain Mohammad Afzal, Aziz Md Abdul, Ahmed Mst Sharika, Chowdhury Mahmood Ahmed, Islam Mohammad Safiqul, Marzan Lolo W |
Two Genetic Mechanisms in Two Siblings with Intellectual Disability, Autism Spectrum Disorder, and Psychosis. Journal of personalized medicine 2022 6 12 (6): . Huang Yu-Shu, Fang Ting-Hsuan, Kung Belle, Chen Chia-Hsia |
Identifying and Exploring the Candidate Susceptibility Genes of Cirrhosis Using the Multi-Tissue Transcriptome-Wide Association Study. Frontiers in genetics 2022 6 13 878607. Zhu Xiao-Bo, Hou Yu-Qing, Ye Xiang-Yu, Zou Yi-Xin, Xia Xue-Shan, Yang Sheng, Huang Peng, Yu Rong-B |
Screening for modulators of autism spectrum disorder using induced human neurons. SLAS discovery : advancing life sciences R & D 2022 2 27 (2): 128-139. Rao Sumitha Rajendra, Kostic Ana, Baillargeon Pierre, Fernandez-Vega Virneliz, de Anda Mitzy Rios, Fletcher Kelty, Shumate Justin, Scampavia Louis, Buxbaum Joseph D, Spicer Timothy |
Diagnostic yield of clinical exome sequencing in adulthood in medical genetics clinics. American journal of medical genetics. Part A 2022 11 191 (2): 510-517. Mainali Apurba, Athey Taryn, Bahl Shalini, Hung Clara, Caluseriu Oana, Chan Alicia, Eaton Alison, Ghai Shailly Jain, Kannu Peter, MacPherson Melissa, Niederhoffer Karen Y, Siriwardena Komudi, Mercimek-Andrews Saad |
Phelan-McDermid syndrome: a classification system after 30 years of experience. Orphanet journal of rare diseases 2022 1 17 (1): 27. Phelan Katy, Boccuto Luigi, Powell Craig M, Boeckers Tobias M, van Ravenswaaij-Arts Conny, Rogers R Curtis, Sala Carlo, Verpelli Chiara, Thurm Audrey, Bennett William E, Winrow Christopher J, Garrison Sheldon R, Toro Roberto, Bourgeron Thom |
Microvascular and macrovascular complications of type 2 diabetes mellitus: Exome wide association analyses. Frontiers in endocrinology 2023 4 14 1143067. Mansour Afnan, Mousa Mira, Abdelmannan Dima, Tay Guan, Hassoun Ahmed, Alsafar Habi |
Nexus between genome-wide copy number variations and autism spectrum disorder in Northeast Han Chinese population. BMC psychiatry 2023 2 23 (1): 96. Qiu Shuang, Qiu Yingjia, Li Yong, Zhu Xiaojuan, Liu Yunkai, Qiao Yichun, Cheng Yi, Liu Yaw |
Prioritizing de novo potential non-canonical splicing variants in neurodevelopmental disorders. EBioMedicine 2023 12 99 104928. Kuokuo Li, Jifang Xiao, Zhengbao Ling, Tengfei Luo, Jingyu Xiong, Qian Chen, Lijie Dong, Yijing Wang, Xiaomeng Wang, Zhaowei Jiang, Lu Xia, Zhen Yu, Rong Hua, Rui Guo, Dongdong Tang, Mingrong Lv, Aojie Lian, Bin Li, GuiHu Zhao, Xiaojin He, Kun Xia, Yunxia Cao, Jinchen |
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- Page last updated:Apr 22, 2024
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