Primary researchposted Oct 19, 2020
Whole exome sequencing identified novel mutation in SUOX gene causes extremely rare autosomal recessive isolated sulfite oxidase deficiency
Rui Zhang, Yajing Hao, Ying Xu, Jiale Qin, Yanfang Wang, Subrata Kumar Dey, Chen Li, and 2 more authors
Under Review
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Primary researchposted Oct 09, 2020
DNA Methylation in OPG/RANK/RANKL Pathway is Associated with Steroid-induced Osteonecrosis of the Femoral Head
Menghu Sun, Yuju Cao, Xiaolong Yang, Feimeng An, Huiqiang Wu, Jianzhong Wang
Under Review
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Primary researchupdated Sep 23, 2020
Evaluation of a genetic risk score for severity of COVID-19 using human chromosomal-scale length variation.
Chris Toh, James Brody
Published
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Primary researchposted Sep 21, 2020
Comprehensive assessments of germline deletion structural variants reveal the association between prognostic MUC4 and CEP72 deletions and immune response gene expression in colorectal cancer patients
Lin Peng-Chan, Hui-O Chen, Chih-Jung Lee, Yu-Min Yeh, Meng-Ru Shen, Jung-Hsien Chiang
Under Review
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Primary researchupdated Sep 15, 2020
Inferences from dysregulated long non-coding RNA-mediated competing endogenous RNAs in various chemotherapy drugs and evaluation of drug response in breast cancer
Ziwen Zhang, Dongbo Li, Han Zhang, Qi Qin, Qingyuan Zhang
Under Review
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Primary researchposted Sep 15, 2020
Novel Germline Mutation in BCAR1 in Two Siblings With Lung Cancer: a Possible Susceptibility Gene
Zhu Kuikui, Zhao Yangchao, Wu Lu, Zhang Sijia, Zong Yan, Li Zhenyu, Li Qianwen, and 2 more authors
Under Review
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Primary researchupdated Sep 14, 2020
Mild dyserythropoiesis and b-like globin gene expression imbalance due to the loss of histone chaperone ASF1B
Petros Papadopoulos, Athanassia Kafasi, Iris de Cuyper, Vilma Barroca, Daniel Lewandowski, Zahra Kadri, Martijn Veldthuis, and 9 more authors
Published
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Primary researchposted Sep 04, 2020
KVarPredDB: A Database for Predicting Pathogenicity of Missense Sequence Variants of Keratin Genes Associated With Genodermatoses
Santasree Banerjee, Yuyi Ying, Lu Lu, Lizhen Xu, Qiang Zhao, Hao Wu, Ruiqi Li, and 7 more authors
Under Revision
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Primary researchupdated Sep 03, 2020
Long non-coding RNA MIR4300HG polymorphisms are associated with postoperative nausea and vomiting: a genome-wide association study
Shigekazu Sugino, Daisuke Konno, Yosuke Kawai, Masao Nagasaki, Yasuhiro Endo, Tomo Hayase, Misako Yamazaki-Higuchi, and 8 more authors
Published
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Primary researchupdated Aug 28, 2020
Delineation of molecular findings by whole exome sequencing for suspected cases of paediatric-onset mitochondrial diseases in the Southern Chinese population
Mandy Ho-Yin Tsang, Anna Ka-Yee Kwong, Kate Lok-San Chan, Jasmine Lee-Fong Fung, Mullin Ho-Chung Yu, Christopher Chun-Yu Mak, Kit-San Yeung, and 14 more authors
Published
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