Global Medical Genetics

Issue 01 · January 2024

Issue
Original Article
001
Mir, Asif; Kamran, Zainab; Iqbal, Wajid: Orchestration of Genetic Alterations in PSEN1 and PSEN2 Genes in Development of Alzheimer's Disease through Computational Analysis Open Access

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020
Li, Weiran; Lu, Xiaowei; Shu, Jianbo; Cai, Yingzi; Li, Dong; Cai, Chunquan: Novel Variants of CEP152 in a Case of Compound-Heterozygous Inheritance of Epilepsy Open Access

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48
Li, Yang; Sun, Ting; Chen, Jia; Zhang, Lei: Identification of Novel Risk Variants of Inflammatory Factors Related to Myeloproliferative Neoplasm: A Bidirectional Mendelian Randomization Study Open Access

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Supplementary Material

Supplementary Material
059
Muñoz-Novas, Carolina; González-Gascón-y-Marín, Isabel; Figueroa, Iñigo; Sánchez-Paz, Laura; Pérez-Carretero, Claudia; Quijada-Álamo, Miguel; Rodríguez-Vicente, Ana-Eugenia; Infante, María-Stefania; Foncillas, María-Ángeles; Landete, Elena; Churruca, Juan; Marín, Karen; Ramos, Victoria; Sánchez Salto, Alejandro; Hernández-Rivas, José-Ángel: Association of Cytogenetics Aberrations and IGHV Mutations with Outcome in Chronic Lymphocytic Leukemia Patients in a Real-World Clinical Setting Open Access

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Supplementary Material

Supplementary Material
069
Mozaffarizadeh, Hengameh; Mokarian, Fariborz; Salehi, Mansoor; Hakimian, Seyyed Mohammad Reza; Moazam, Elham; Amoozadehsamakoosh, Amirmohammad; Hosseinzadeh, Majid; Behnam, Mahdieh; Behjati, Mohaddeseh; Naseri, Alma; Lotfi, Marzieh; Tohidi, Fatemeh: The Relationship between VDR Gene Polymorphisms Bsm1 and Apa1 with Breast Cancer Risk Open Access

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123
DiAdamo, Autumn; Chai, Hongyan; Chong, Mei Ling; Wang, Guilin; Wen, Jiadi; Jiang, Yong-Hui; Li, Peining: Patterns of Cytogenomic Findings from a Case Series of Recurrent Pregnancy Loss Provide Insight into the Extent of Genetic Defects Causing Miscarriages Open Access

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Case Report
013
Sun, Mei; Li, Qing; Zhang, Ying; Cai, Yingzi; Dong, Yan; Shu, Jianbo; Li, Dong; Cai, Chunquan: Identification of Two Variants c.2697A > C and c.3305A > C in USP7 by Analysis of Whole-Exome Sequencing in Chinese Patients with Hao-Fountain Syndrome Open Access

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025
Zhou, Feiyu; Yi, Gui; Liu, Xiangyu; Sheng, Wenchao; Shu, Jianbo; Li, Dong; Cai, Chunquan: A Pair of Compound Heterozygous IARS2 Variants Manifesting West Syndrome and Electrolyte Disorders in a Chinese Patient Open Access

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Review Article
029
Hasan, Rakibul: The Multifaceted Role of Oxytocinergic System and OXTR Gene Open Access

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036
Huang, Helen; Verma, Jay; Mok, Valerie; Bharadwaj, Hareesha R.; Alrawashdeh, Maen M.; Aratikatla, Adarsh; Sudan, Sourav; Talukder, Suprateeka; Habaka, Minatoullah; Tse, Gary; Bardhan, Mainak: Exploring Health Care Disparities in Genetic Testing and Research for Hereditary Cardiomyopathy: Current State and Future Perspectives Open Access

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076
Zaki, Zakiyyah M.M.; Ali, Siti A.; Ghazali, Mazira M.; Jam, Faidruz A.: Genetic Modifications of Developmental Dyslexia and Its Representation Using In Vivo, In Vitro Model Open Access

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086
Xu, Chunwei; Wang, Qian; Wang, Dong; Wang, Wenxian; Fang, Wenfeng; Li, Ziming; Liu, Aijun; Yu, Jinpu; Zhong, Wenzhao; Wang, Zhijie; Zhang, Yongchang; Liu, Jingjing; Zhang, Shirong; Cai, Xiuyu; Liu, Anwen; Li, Wen; Zhan, Ping; Liu, Hongbing; Lv, Tangfeng; Miao, Liyun; Min, Lingfeng; Chen, Yu; Yuan, Jingping; Wang, Feng; Jiang, Zhansheng; Lin, Gen; Huang, Long; Pu, Xingxiang; Lin, Rongbo; Liu, Weifeng; Rao, Chuangzhou; Lv, Dongqing; Yu, Zongyang; Li, Xiaoyan; Tang, Chuanhao; Zhou, Chengzhi; Zhang, Junping; Xue, Junli; Guo, Hui; Chu, Qian; Meng, Rui; Wu, Jingxun; Zhang, Rui; Zhou, Jin; Zhu, Zhengfei; Li, Yongheng; Qiu, Hong; Xia, Fan; Lu, Yuanyuan; Chen, Xiaofeng; Ge, Rui; Dai, Enyong; Han, Yu; Pan, Weiwei; Pang, Fei; He, Qingqing; Huang, Jintao; Wang, Kai; Wu, Fan; Xu, Bingwei; Wang, Liping; Zhu, Youcai; Lin, Li; Xie, Yanru; Lin, Xinqing; Cai, Jing; Xu, Ling; Li, Jisheng; Jiao, Xiaodong; Li, Kainan; Wei, Jia; Feng, Huijing; Wang, Lin; Du, Yingying; Yao, Wang; Shi, Xuefei; Niu, Xiaomin; Yuan, Dongmei; Yao, Yanwen; Huang, Jianhui; Feng, Yue; Zhang, Yinbin; Sun, Pingli; Wang, Hong; Ye, Mingxiang; Wang, Zhaofeng; Hao, Yue; Wang, Zhen; Wan, Bin; Lv, Donglai; Yang, Shengjie; Kang, Jin; Zhang, Jiatao; Zhang, Chao; Ou, Juanjuan; Shi, Lin; Wang, Yina; Li, Bihui; Zhang, Zhang; Li, Zhongwu; Liu, Zhefeng; Yang, Nong; Wu, Lin; Wang, Huijuan; Jin, Gu; Wang, Guansong; Wang, Jiandong; Fang, Meiyu; Fang, Yong; Li, Yuan; Wang, Xiaojia; Zhang, Yiping; Zhu, Xixu; Shen, Yi; Ma, Shenglin; Wang, Biyun; Si, Lu; Song, Yong; Lu, Yuanzhi; Chen, Jing; Song, Zhengbo: Expert Consensus on the Diagnosis and Treatment of NRG1/2 Gene Fusion Solid Tumors Open Access

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100
Kelkar, Janhawi; DiMaio, Miriam; Ma, Deqiong; Zhang, Hui: Maternal Uniparental Isodisomy of Chromosome 2 Leading to Homozygous Variants in SPR and ZNF142: A Case Report and Review of the UPD2 Literature Open Access

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113
Kolanu, Nikhil Deep: CRISPR–Cas9 Gene Editing: Curing Genetic Diseases by Inherited Epigenetic Modifications Open Access

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Short Communication
034
Kanduc, Darja: On the Pentapeptide as the Measurement Unit in Immunology Open Access

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