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An Alu mediated intergenic inversion in RBCK1 causing Polyglucosan body myopathy type
Author: Zhu, Bochen; Jiao, Kexin; Luo, Xiaona; Gao, Mingshi; Yue, Dongyue; Zhang, Jialong; Xia, Xingyu; Zhang, Yuanfeng; Zhao, Chongbo; Hedberg-Oldfors, Carola; Oldfors, Anders; Chen, Xuqin; Zhu, Wenhua
Journal: HUMAN MOLECULAR GENETICS. 2026; Vol. 35, Issue 4, pp. -. DOI: 10.1093/hmg/ddag009
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Correlations between phenotype and gene region-specific episignatures in Rubinstein-Taybi syndrome and Menke-Hennekam syndrom
Author: Tang, Yanan; Ye, Xiantao; Zhan, Yongkun; Zhang, Kaichuang; Qiu, Wenjuan; Yang, WenQing; Gu, Xuefan; Yu, Yongguo; Xiao, Bing; Sun, Yu
Journal: HUMAN MOLECULAR GENETICS. 2026; Vol. 35, Issue 5, pp. -. DOI: 10.1093/hmg/ddag006
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Heterozygous loss-of-function variant in METTL5 is associated with intellectual disabilit
Author: Tao, Wenjun; Ying, Yanqin; Sun, Jiaju; Wu, Yuxin; Jiang, Xinhui; Zhang, Jun; Zhou, Jun
Journal: HUMAN MOLECULAR GENETICS. 2026; Vol. 35, Issue 6, pp. -. DOI: 10.1093/hmg/ddag018
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A reanalysis of a genome-wide association study on breast cancer in Asian populations using the SG10K_Health reference panel for imputation: a multi-Centre case-control analysi
Author: Chang, Xuling; Mariapun, Shivaani; Li, Mengyu; Wang, Ling; Ho, Peh Joo; Khng, Alexis Jiaying; Muir, Kenneth R.; Lophatananon, Artitaya; Aronson, Kristan J.; Murphy, Rachel A.; Kwong, Ava; Au, Chun Hang; Kim, Sung-Won; Park, Sue K.; Stram, Daniel O.; Wu, Anna H.; Teo, Soo-Hwang; Yip, Cheng-Har; Tai, Nur Aishah Mohd; John, Esther M.; Kurian, Allison W.; Iwasaki, Motoki; Yamaji, Taiki; Choi, Ji-Yeob; Kang, Daehee; Shu, Xiao-Ou; Zheng, Wei; Hartman, Mikael; Tan, Ern Yu; Tan, Veronique Kiak-Mien; Lim, Geok Hoon; Bolla, Manjeet K.; Dunning, Alison M.; Dennis, Joe; Wang, Qin; Naven, Marc; Easton, Douglas F.; Dorajoo, Rajkumar; Ho, Weang-Kee; Li, Jingmei
Journal: HUMAN MOLECULAR GENETICS. 2026; Vol. 35, Issue 6, pp. -. DOI: 10.1093/hmg/ddag015
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Simultaneous detection of small and large variants enhances the diagnosis of rare diseases using full genome sequencin
Author: Tsai, Meng-Ju Melody; Kao, Hsiao-Jung; Wei, Chun-Yu; Chen, Hsiao-Huei; Chou, Yen-Yin; Hung, Miao-Zi; Hsueh, Hsueh-Wen; Hsieh, Sung-Tsang; Fan, Pi-Chuan; Tu, Yi-Fang; Lin, Ju-Li; Chen, Hui-An; Hsu, Rai-Hseng; Chien, Yin-Hsiu; Hwu, Wuh-Liang; Kwok, Pui-Yan; Lee, Ni-Chung
Journal: HUMAN MOLECULAR GENETICS. 2026; Vol. , Issue , pp. -. DOI: 10.1093/hmg/ddaf204
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COQ8B gene deficiency as a potential cause of retinal abnormalities in Pediatric kidney transplant recipient
Author: Feng, Yonghua; Feng, Yi; Wang, Zhigang; Li, Wenjing; Zhu, Haowei; Li, Zhou; Feng, Chenghao; Xu, Hongen; Feng, Guiwen; Zhang, Di; Shang, Wenjun
Journal: HUMAN MOLECULAR GENETICS. 2025; Vol. , Issue , pp. -. DOI: 10.1093/hmg/ddaf084
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De novo missense variants of KCNA3, KCNA4, and KCNA6 cause early onset developmental epileptic encephalopath
Author: Tsai, Meng-Han; Lo, Chia-Hua; Liu, You-Xuan; Wu, Sheng-Nan; Kuo, Cheng-Yen; Liu, Yi-Hsuan; Chang, Ying-Chao; Lin, Kuan-Lin; Hung, Po-Cheng; Chen, Hwei-Hsien; Chen, Jian-Liang; Yao, Chi-Kuang; Hwang, Eric; Wang, Ya-Jean
Journal: HUMAN MOLECULAR GENETICS. 2025; Vol. , Issue , pp. -. DOI: 10.1093/hmg/ddaf090
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Calcium homeostasis modulator 2 aggravates α-synuclein-induced neurotoxicity in Parkinson's disease by activating PARP-1 depended Parthanato
Author: Pan, Qi; Xu, Huanjun; Xiao, Zongyu; Liu, Guanghao; Zhang, Huaming; Li, Yiying
Journal: HUMAN MOLECULAR GENETICS. 2025; Vol. , Issue , pp. -. DOI: 10.1093/hmg/ddaf091
