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基因组学及表观基因组学
Genomics & Epigenomics
发布时间:2023-12-28    

12    Chen J, Jia Y, Zhong J, Zhang K, Dai H, He G, Li F, Zeng L, Fan C, Xu H. Novel mutation leading to splice donor loss in a conserved site of DMD gene causes Duchenne muscular dystrophy with cryptorchidism. J Med Genet. 2024 May 10:jmg-2024-109896. doi: 10.1136/jmg-2024-109896. Epub ahead of print. PMID: 38621993.

11    Chen J, He X, Jakovlić I. Positive selection-driven fixation of a hominin-specific amino acid mutation related to dephosphorylation in IRF9. BMC Ecol Evol. 2022 Nov 10;22(1):132. doi: 10.1186/s12862-022-02088-5. PMID: 36357830.

10    Jia Y, Chen J, Zhong J, He X, Zeng L, Wang Y, Li J, Xia S, Ye E, Zhao J, Ke B, Li C. Novel Rare Mutation in a Conserved Site of PTPRB Causes Human Hypoplastic Left Heart Syndrome. Clin Genet. 2022 Sep 23. doi: 10.1111/cge.14234. Epub ahead of print. PMID: 36148623.

9    Alqahtani T, Khandia R, Puranik N, Alqahtani AM, Chidambaram K, Kamal MA. Codon Usage is Influenced by Compositional Constraints in Genes Associated with Dementia. Front Genet. 2022 Aug 9;13:884348. doi: 10.3389/fgene.2022.884348. PMID: 36017501; PMCID: PMC9395603.

8    Li J, Xu J, Yang T, Chen J, Li F, Shen B, Fan C. Genome-wide methylation analyses of human sperm unravel novel differentially methylated regions in asthenozoospermia. Epigenomics. 2022 Aug 25. doi: 10.2217/epi-2022-0122. Epub ahead of print. PMID: 36004499.

7    Khandia R, Saeed M, Alharbi AM, Ashraf GM, Greig NH, Kamal MA. Codon Usage Bias Correlates With Gene Length in Neurodegeneration Associated Genes. Front Neurosci. 2022 Jul 4;16:895607. doi: 10.3389/fnins.2022.895607. PMID: 35860292; PMCID: PMC9289476.

6    Li Y, Jiang Y, Li Z, Yu Y, Chen J, Jia W, Kaow Ng Y, Ye F, Cheng Li S, Shen B. Both simulation and sequencing data reveal coinfections with multiple SARS-CoV-2 variants in the COVID-19 pandemic. Comput Struct Biotechnol J. 2022;20:1389-1401. doi: 10.1016/j.csbj.2022.03.011. Epub 2022 Mar 18. PMID: 35342534; PMCID: PMC8930779.

5    Chen J, Zhong J, He X, Li X, Ni P, Safner T, Šprem N, Han J. The de novo assembly of a European wild boar genome revealed unique patterns of chromosomal structural variations and segmental duplications. Anim Genet. 2022 Mar 2. doi: 10.1111/age.13181. Epub ahead of print. PMID: 35238061.

4    Yang N, Chen H, Hu M, Zhang G, Amanullah, Deng C. Evolution of a splice variant that acts as an endogenous antagonist of the original INSL3 in primates. Gene. 2020 Sep 5;754:144861. doi: 10.1016/j.gene.2020.144861. Epub 2020 Jun 9. PMID: 32531454.

3    Skryabin BV, Kummerfeld DM, Gubar L, Seeger B, Kaiser H, Stegemann A, Roth J, Meuth SG, Pavenstädt H, Sherwood J, Pap T, Wedlich-Söldner R, Sunderkötter C, Schwartz YB, Brosius J, Rozhdestvensky TS. Pervasive head-to-tail insertions of DNA templates mask desired CRISPR-Cas9-mediated genome editing events. Sci Adv. 2020 Feb 12;6(7):eaax2941. doi: 10.1126/sciadv.aax2941. PMID: 32095517; PMCID: PMC7015686.

2    Long M, Shen B. Evolution of genes and genomes: an emerging paradigm in life science. Sci China Life Sci. 2019 Apr;62(4):435-436. doi: 10.1007/s11427-018-9448-x. Epub 2019 Apr 16. PMID: 30929192.

1    Zhang W, Gao Y, Long M, Shen B. Origination and evolution of orphan genes and de novo genes in the genome of Caenorhabditis elegans. Sci China Life Sci. 2019 Apr;62(4):579-593. doi: 10.1007/s11427-019-9482-0. Epub 2019 Mar 21. PMID: 30919281.

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