Diagnostic efficiency of exome-based sequencing in pediatric patients with epilepsy by Huafang Zou, Huafang Zou, Qian Zhang, Jianxiang Liao, Jianxiang Liao, Dongfang Zou, Zhanqi Hu, Bing Li, Li Chen, Jialun Wen, Xia Zhao, Victor Wei Zhang, Dezhi Cao, Dezhi Cao

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EGFR-Mutated Lung Adenocarcinoma With Li–Fraumeni Syndrome: The Imperative for Germline Testing in Patients With a Family History, a Case Report by Hiroyuki Fujii, MD, Yusuke Okuma, MD, PhD, Makoto Hirata, MD, PhD, Yuki Shinno, MD, PhD, Tatsuya Yoshida, MD, PhD, Yasushi Goto, MD, PhD, Hidehito Horinouchi, MD, PhD, Noboru Yamamoto, MD, PhD, Yuichiro Ohe, MD, PhD

“…Comprehensive genomic profiling (CGP) has progressed rapidly and plays an important role in advancing precision medicine in oncology. …”
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Cobalt oxide nanoparticles induce cytotoxicity and excessive ROS mediated mitochondrial dysfunction and p53-independent apoptosis in melanoma cells by Hanan R. H. Mohamed, Basma A. Mohamed, George M. Hakeem, Shahd H. Elnawasani, Maria Nagy, Rawan Essam, Ayman Diab, Gehan Safwat

“…This study aimed to assess the therapeutic potential of Co3O4NPs in melanoma treatment by evaluating their impact on cell viability, genomic DNA and mitochondrial integrity, reactive oxygen species (ROS) generation and apoptosis induction in melanoma A-375 cells. …”
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The Effect of Mitochondrial Dysfunction on Cytosolic Nucleotide Metabolism by Claus Desler, Anne Lykke, Lene Juel Rasmussen

“…Mitochondrial dysfunction has been linked to genomic instability, and it is possible that the limiting effect of mitochondrial dysfunction on the levels of nucleotides and resulting aberrant RNA and DNA synthesis in part can be responsible for this link. …”
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A BRAF V600E Mutation in RET-Negative Medullary Thyroid Cancer by Richard J. Robbins, Jessica S. Thomas, Patricia Mejia Osuna, Jawairia Shakil

“…We report the case of a woman with a sporadic medullary thyroid carcinoma. Genomic analysis found that her tumor did not contain any common RET mutations but did harbor a BRAF V600E mutation. …”
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COMPUTER-ASSISTED STUDY OF THE REGULATION OF EUKARYOTIC GENE TRANSCRIPTION ON THE BASE OF DATA ON CHROMATIN SEQUENCING AND PRECIPITATION by Yu. L. Orlov

“…The development of high-throughput sequencing technologies dramatically accelerated the accumulation of data on genome structure, distribution of gene regulatory regions in the genome and specific features of their interaction. …”
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Gene Array Studies in Renal Neoplasia by John P.T. Higgins

“…For these reasons, renal cell carcinoma is ideally suited to the genome scale investigation made possible by DNA microarrays. …”
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Three Generations of Experience and Thought in Microbiology and Infection by Morris Goldner

“…Professor Pallen is currently professor of bacterial genetics at the Medical School, University of Birmingham (United Kingdom); he is a keen enthusiast of genomic studies in the interest of molecular pathogenesis research. …”
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Orthopoxvirus Genes That Mediate Disease Virulence and Host Tropism by Sergei N. Shchelkunov

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ANGPTL4: A Predictive Marker for Diabetic Nephropathy by Eman Al Shawaf, Mohamed Abu-Farha, Sriraman Devarajan, Zahra Alsairafi, Irina Al-Khairi, Preethi Cherian, Hamad Ali, Aditi Mathur, Fahd Al-Mulla, Abdulnabi Al Attar, Jehad Abubaker

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Exome sequencing in Nigerian children with early‐onset epilepsy syndromes by Ibitayo Abigail Ademuwagun, Yagoub Adam, Solomon Oladapo Rotimi, Steffen Syrbe, Maximilian Radtke, Julia Hentschel, Johannes R. Lemke, Ezekiel Adebiyi

“…Venous blood samples were collected, and genomic DNA was isolated and purified. Molecular analysis included DNA fragmentation, ligation, target enrichment, library preparation, and whole‐exome sequencing. …”
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Evaluation of transcriptomic changes after photobiomodulation in spinal cord injury by Andrew R. Stevens, Mohammed Hadis, Hannah Alldrit, Michael R. Milward, Valentina Di Pietro, Deena M. A. Gendoo, Antonio Belli, William Palin, David J. Davies, Zubair Ahmed

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Metabolic redundancy and specialisation of novel sulfide-oxidizing Sulfurimonas and Sulfurovum along the brine-seawater interface of the Kebrit Deep by Rayyan Alamoudi, Alan Barozzi, Grégoire Michoud, Marc W. Van Goethem, Charlene Odobel, Yue Chen, Ramona Marasco, Daniele Daffonchio

“…Fifty-four Campylobacterota MAGs were assembled and dereplicated into three distinct groups, with the highest-quality genome retained as representative. These genomes represent novel sulfide-oxidizing species within the Sulfurimonas and Sulfurovum genera, which differ from those found in mildly saline deep-sea sulfidic pools. …”
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Investigating misclassification of type 1 diabetes in a population-based cohort of British Pakistanis and Bangladeshis using polygenic risk scores by Timing Liu, Alagu Sankareswaran, Gordon Paterson, Genes & Health Research Team, Diane P. Fraser, Sam Hodgson, Qin Qin Huang, Teng Hiang Heng, Meera Ladwa, Nick Thomas, David A. van Heel, Michael N. Weedon, Chittaranjan S. Yajnik, Richard A. Oram, Giriraj R. Chandak, Hilary C. Martin, Sarah Finer

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The Frequency of <i>DPYD</i> c.557A>G in the Dominican Population and Its Association with African Ancestry by Mariela Guevara, Carla González de la Cruz, Fernanda Rodrigues-Soares, Ernesto Rodríguez, Caíque Manóchio, Eva Peñas-Lledó, Pedro Dorado, Adrián LLerena

“…Data from the 1000 Genomes project were also retrieved for comparison and increased statistical power. …”
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Resourceful and economical designing of fermentation medium for lab and commercial strains of yeast from alternative feedstock: ‘transgenic oilcane’ by Shraddha Maitra, Bruce Dien, Kristen Eilts, Nurzhan Kuanyshev, Yoel R. Cortes-Pena, Yong-Su Jin, Jeremy S. Guest, Vijay Singh

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Increased DNA Copy Number Variation Mosaicism in Elderly Human Brain by Darine Villela, Claudia K. Suemoto, Renata Leite, Carlos Augusto Pasqualucci, Lea T. Grinberg, Peter Pearson, Carla Rosenberg

“…Previous reports have shown that the genome of neuronal cells displays somatic genomic mosaicism including DNA copy number variations (CNVs). …”
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Adult hypophosphatasia presenting with recurrent acute joint pain by Hayao Yoshida, Takaaki Murakami, Atsubumi Ogawa, Takashi Sunouchi, Naoko Hidaka, Nobuaki Ito, Hiromi Murakami, Hidenori Kawasaki, Tomoyuki Akiyama, Katsumi Nakajima, Daisuke Yabe, Taizo Yamamoto

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The effect of <i>T. aestivum</i> chromosomes 1A and 1D on fertility of alloplasmic recombinant (<i>H. vulgare</i>)-<i>T. aestivum</i> lines depending on cytonuclear compatibility by L. A. Pershina, N. V. Trubacheeva, V. K. Shumny

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Universal conditional networks (UniCoN) for multi-age embryonic cartilage segmentation with Sparsely annotated data by Nishchal Sapkota, Yejia Zhang, Zihao Zhao, Maria Jose Gomez, Yuhan Hsi, Jordan A. Wilson, Kazuhiko Kawasaki, Greg Holmes, Meng Wu, Ethylin Wang Jabs, Joan T. Richtsmeier, Susan M. Motch Perrine, Danny Z. Chen

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