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Expanded carrier screening in a Southwestern Chinese population indicates East Asian specific low-frequency pathogenic variants account for nearly half of the at-risk couple rat
Author: Liu, Sha; Cao, Liyuan; Zhang, Victor Wei; Huang, Shuang; Liu, Haipeng; Wei, Xiang; Luo, Yuan; Li, Yue; Zhou, Lin; Jiang, Linzhi; Zhu, Qian; Liu, Hongqian
Journal: JOURNAL OF MEDICAL GENETICS. 2026; Vol. , Issue , pp. -. DOI: 10.1136/jmg-2025-111273
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Clinical characteristics and prognosis of SDHD pathogenic variant carriers: a systematic review and meta-analysi
Author: Lian, Xinquan; Shen, Liping; Song, Jiayin; Pang, Mengqi; Zhong, Yunmeng; Zhang, Han; Xing, Yadong; Tung, Tao-Hsin; Shen, Bo
Journal: JOURNAL OF MEDICAL GENETICS. 2026; Vol. , Issue , pp. -. DOI: 10.1136/jmg-2025-111235
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Evaluating the efficiency of nanopore adaptive sampling sequencing in detecting balanced translocatio
Author: Gao, Meng; Ren, Jun; Peng, Cuiting; Liu, Xijing; Zheng, Jiemei; Chen, Han; Chen, Xinlian; Wang, Jiamin; Lai, Yi; Hu, Ting; Liu, Shanling
Journal: JOURNAL OF MEDICAL GENETICS. 2026; Vol. , Issue , pp. -. DOI: 10.1136/jmg-2025-111347
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Comparison of clinical characteristics between patients with single mutation and co-mutation in hereditary renal cancer: a retrospective analysis of 115 patients with von Hippel-Lindau syndrom
Author: Liu, Tao; Liu, Haode; Deng, Ruiyi; Jianhui, Qiu; Zhang, Zedan; Wang, Chuandong; Bao, Yuhang; Chen, Xiaolin; Song, Zheng; He, Tianyi; Cai, Lin; Wang, Yizhou; Zhou, Jingcheng; Gong, Kan
Journal: JOURNAL OF MEDICAL GENETICS. 2026; Vol. , Issue , pp. -. DOI: 10.1136/jmg-2025-111303
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Comprehensive genotype-phenotype correlation analysis in 11 509 neonates carrying common deafness-associated pathogenic variant
Author: Li, Jianjun; Zhan, Zijun; Zhang, Xiao; Wu, Bo; Liu, Wenlan
Journal: JOURNAL OF MEDICAL GENETICS. 2026; Vol. , Issue , pp. -. DOI: 10.1136/jmg-2025-111135
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Whole-exome sequencing reveals sex difference in the genetic architecture of high myopi
Author: Liu, Xingchen; Liang, Jiacheng; Li, Shasha; Yang, Yuhe; Zhu, Qinghao; Qiu, Ruowen; Chen, Zheng Ji; Yao, Yinghao; Ren, Qing; Yu, Xiaoguang; Qu, Jia; Su, Jianzhong; Yuan, Jian
Journal: JOURNAL OF MEDICAL GENETICS. 2025; Vol. 62, Issue 5, pp. 358-368. DOI: 10.1136/jmg-2024-110467
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A novel 8-octapeptide repeat insertion in PRNP causing Huntington disease-like 1 in a Chinese family: a case report and literature revie
Author: Ni, Jie; Zheng, Fangxue; Yu, Lihua; He, Fangping; Ji, Fang; Ling, Yi; Liu, Ping; Peng, Guoping; Ke, Qing
Journal: JOURNAL OF MEDICAL GENETICS. 2025; Vol. , Issue , pp. -. DOI: 10.1136/jmg-2024-110520
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The γ-Actin with pathogenic variants of sites on actin-binding proteins caused earlier onset and more malignant progressive hearing los
Author: Li, Sijun; Feng, Qi; Mei, Lingyun; Zhang, Shuai; Song, Jian; Feng, Yong; Wu, Xuewen
Journal: JOURNAL OF MEDICAL GENETICS. 2025; Vol. , Issue , pp. -. DOI: 10.1136/jmg-2024-110573
