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Comprehensive interpretation of single-nucleotide substitutions in GJB2 reveals the genetic and phenotypic landscape of GJB2-related hearing loss
Author: Xiang, Jiale; Sun, Xiangzhong; Song, Nana; Ramaswamy, Sathishkumar; Abou Tayoun, Ahmad N.; Peng, Zhiyu
Journal: HUMAN GENETICS. 2023; Vol. 142, Issue 1, pp. 33-43. DOI: 10.1007/s00439-022-02479-0
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Dissection of mendelian predisposition and complex genetic architecture of craniovertebral junction malformation
Author: Liu, Zhenlei; Du, Huakang; Zhao, Hengqiang; Cai, Siyi; Zhao, Sen; Niu, Yuchen; Li, Xiaoxin; Liu, Bowen; Huang, Yingzhao; Shao, Jiashen; Liu, Lian; Tian, Ye; Wu, Zhihong; Wu, Hao; Hu, Yue; Zhang, Terry Jianguo; Jian, Fengzeng; Wu, Nan
Journal: HUMAN GENETICS. 2023; Vol. 142, Issue 1, pp. 89-101. DOI: 10.1007/s00439-022-02474-5
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Truncation mutations in MYRF underlie primary angle closure glaucoma
Author: Ouyang, Jiamin; Sun, Wenmin; Shen, Huangxuan; Liu, Xing; Wu, Yingchen; Jiang, Hongmei; Li, Xueqing; Wang, Yingwei; Jiang, Yi; Li, Shiqiang; Xiao, Xueshan; Hejtmancik, J. Fielding; Tan, Zhiqun; Zhang, Qingjiong
Journal: HUMAN GENETICS. 2023; Vol. 142, Issue 1, pp. 103-123. DOI: 10.1007/s00439-022-02487-0
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Common genetic risk factors in ASD and ADHD co-occurring families
Author: Zhou, Anbo; Cao, Xiaolong; Mahaganapathy, Vaidhyanathan; Azaro, Marco; Gwin, Christine; Wilson, Sherri; Buyske, Steven; Bartlett, Christopher W.; Flax, Judy F.; Brzustowicz, Linda M.; Xing, Jinchuan
Journal: HUMAN GENETICS. 2023; Vol. 142, Issue 2, pp. 217-230. DOI: 10.1007/s00439-022-02496-z
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Profiling human pathogenic repeat expansion regions by synergistic and multi-level impacts on molecular connections
Author: Fan, Cong; Chen, Ken; Wang, Yukai; Ball, Edward, V; Stenson, Peter D.; Mort, Matthew; Bacolla, Albino; Kehrer-Sawatzki, Hildegard; Tainer, John A.; Cooper, David N.; Zhao, Huiying
Journal: HUMAN GENETICS. 2023; Vol. 142, Issue 2, pp. 245-274. DOI: 10.1007/s00439-022-02500-6
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Identifying shared genetic factors underlying epilepsy and congenital heart disease in Europeans
Author: Wu, Yiming; Bayrak, Cigdem Sevim; Dong, Bosi; He, Shixu; Stenson, Peter D.; Cooper, David N.; Itan, Yuval; Chen, Lei
Journal: HUMAN GENETICS. 2023; Vol. 142, Issue 2, pp. 275-288. DOI: 10.1007/s00439-022-02502-4
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Variations in mitochondrial DNA coding and d-loop region are associated with early embryonic development defects in infertile women
Author: Liu, Yuqing; Zhao, Shuai; Chen, Xiaolei; Bian, Yuehong; Cao, Yongzhi; Xu, Peiwen; Zhang, Changming; Zhang, Jiangtao; Zhao, Shigang; Zhao, Han
Journal: HUMAN GENETICS. 2023; Vol. 142, Issue 2, pp. 193-200. DOI: 10.1007/s00439-022-02505-1
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Hearing of Otof-deficient mice restored by trans-splicing of N- and C-terminal otoferlin
Author: Tang, Honghai; Wang, Hui; Wang, Shengyi; Hu, Shao Wei; Lv, Jun; Xun, Mengzhao; Gao, Kaiyu; Wang, Fang; Chen, Yuxin; Wang, Daqi; Wang, Wuqing; Li, Huawei; Shu, Yilai
Journal: HUMAN GENETICS. 2023; Vol. 142, Issue 2, pp. 289-304. DOI: 10.1007/s00439-022-02504-2