Search Results - "next generation sequencing"

Consistency in rates of diagnosis of embryonic mosaicism, segmental abnormalities, and "no call" results among experienced embryologists performing preimplantation genetic testing... by Emily K. Osman, M.D, Shelby A. Neal, M.D, Ashley W. Tiegs, M.D, Brent M. Hanson, M.D, Julia G. Kim, M.D., M.P.H, Jason M. Franasiak, M.D., H.C.L.D, Richard T. Scott, Jr., M.D., H.C.L.D

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Evaluation of Serum/Urine Genomic and Metabolomic Profiles to Improve the Adherence to Sildenafil Therapy in Patients with Erectile Dysfunction by Maria Santa Rocca, Alessia Vignoli, Leonardo Tenori, Marco Ghezzi, Maurizio De Rocco Ponce, Giannis Vatsellas, Dimitris Thanos, Roberto Padrini, Carlo Foresta, Luca De Toni

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Transcriptomic and ChIP-sequence interrogation of EGFR signaling in HER2+ breast cancer cells reveals a dynamic chromatin landscape and S100 genes as targets by Miguel Nava, Pranabananda Dutta, Nathan R. Zemke, Robin Farias-Eisner, Jaydutt V. Vadgama, Yanyuan Wu

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High detection rate for disease-causing variants in a cohort of 30 Iranian pediatric steroid resistant nephrotic syndrome cases by Maryam Najafi, Maryam Najafi, Korbinian M. Riedhammer, Korbinian M. Riedhammer, Aboulfazl Rad, Aboulfazl Rad, Paria Najarzadeh Torbati, Riccardo Berutti, Isabel Schüle, Sophie Schroda, Thomas Meitinger, Jasmina Ćomić, Jasmina Ćomić, Simin Sadeghi Bojd, Tayebeh Baranzehi, Azadeh Shojaei, Anoush Azarfar, Mahmood Reza Khazaei, Anna Köttgen, Anna Köttgen, Rolf Backofen, Rolf Backofen, Ehsan Ghayoor Karimiani, Ehsan Ghayoor Karimiani, Julia Hoefele, Miriam Schmidts, Miriam Schmidts, Miriam Schmidts

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Characterization of pharmacogenomic variants in a Brazilian admixed cohort of elderly individuals based on whole-genome sequencing data by Luciana Bertholim-Nasciben, Luciana Bertholim-Nasciben, Marilia O. Scliar, Guilherme Debortoli, Bhooma Thiruvahindrapuram, Stephen W. Scherer, Stephen W. Scherer, Yeda A. O. Duarte, Mayana Zatz, Mayana Zatz, Guilherme Suarez-Kurtz, Esteban J. Parra, Michel S. Naslavsky, Michel S. Naslavsky, Michel S. Naslavsky

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Advanced non-small-cell lung cancer: how to manage EGFR and HER2 exon 20 insertion mutation-positive disease by Giulio Metro, Andrea De Giglio, Biagio Ricciuti, Marco Siringo, Daniele Marinelli, Alain Gelibter, Federica Pecci, Rossana Berardi, Luca Cantini, Alessandro Di Federico, Elisa Andrini, Mirta Mosca, Giuseppe Lamberti, Marta Brambilla, Giannis Mountzios

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Not only Alagille syndrome. Syndromic paucity of interlobular bile ducts secondary to HNF1β deficiency: a case report and literature review by Michele Pinon, Michele Carboni, Davide Colavito, Fabio Cisarò, Licia Peruzzi, Antonio Pizzol, Giulia Calosso, Ezio David, Pier Luigi Calvo

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Differential mRNA and long noncoding RNA expression profiles in pediatric B-cell acute lymphoblastic leukemia patients by Jing Xia, Mengjie Wang, Yi Zhu, Chaozhi Bu, Tianyu Li

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Implementation and utilization of genetic testing in personalized medicine by Abul-Husn NS, Owusu Obeng A, Sanderson SC, Gottesman O, Scott SA

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A novel deletion variant in TRAPPC2 causes spondyloepiphyseal dysplasia tarda in a five-generation Chinese family by Cai Zhang, Caiqi Du, Juan Ye, Feng Ye, Renfa Wang, Xiaoping Luo, Yan Liang

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Genotype-phenotype correlation analysis of MYO15A variants in autosomal recessive non-syndromic hearing loss by Jing Zhang, Jing Guan, Hongyang Wang, Linwei Yin, Dayong Wang, Lidong Zhao, Huifang Zhou, Qiuju Wang

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Case Report: Congenital Myasthenic Syndrome Presenting with Bilateral Vocal Cord Paralysis Caused by De-Novel Compound Heterozygous MUSK Mutation by Jiang L, Wang SC, Zhang J, Han FG, Zhao J, Xu Y

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Isolation and characterization of genetic variants of Orthohantavirus hantanense from clinical cases of HFRS in Jiangxi Province, China. by Shiwen Liu, Zhishi Deng, Jianxiong Li, Long Zou, Xiuhui Sun, Xiaoqing Liu, Yong Shi, Shunqiang Huang, Yangbowen Wu, Jinhui Lei, Peipei Liu, Pei Zhang, Ying Xiong, Zhong-Er Long

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Application of machine learning to predict aneuploidy and mosaicism in embryos from in vitro fertilization cyclesAJOG Global Reports at a Glance by José A. Ortiz, PhD, Ruth Morales, PhD, Belén Lledó, PhD, Juan A. Vicente, PhD, Julio González, PhD, Eva M. García-Hernández, PhD, Alba Cascales, MSc, Jorge Ten, PhD, Andrea Bernabeu, PhD, MD, Rafael Bernabeu, PhD, MD

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The use of ultra-dense array CGH analysis for the discovery of micro-copy number alterations and gene fusions in the cancer genome by Basik Mark, Ferrario Cristiano, Przybytkowski Ewa

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Automated HL7v2 LRI informatics framework for streamlining genomics-EHR data integration by Robert H. Dolin, Rohan Gupta, Kimberly Newsom, Bret S.E. Heale, Shailesh Gothi, Petr Starostik, Srikar Chamala

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lncRNA RP11-624L4.1 Is Associated with Unfavorable Prognosis and Promotes Proliferation via the CDK4/6-Cyclin D1-Rb-E2F1 Pathway in NPC by Liuying Zhou, Ruijie Liu, Xujun Liang, Sai Zhang, Wu Bi, Mei Yang, Yi He, Jin Jin, Shisheng Li, Xinming Yang, Junjiang Fu, Pengfei Zhang

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Short-term Weight Trajectory of Severely Obese Individuals With and Without Pathogenic Satiety-Regulation Melanocortin 3/4 Receptor (MC3/4R) Mutations From a Multi-ethnic Asian Lar... by Joel Guanyi Lim GCE A-levels, Angela Moh PhD, Bhuvaneswari Pandian BSc, Chalani Udhyami Ubeynarayana MSc, Nathaniel Guanning Lim GCE A-levels, Bo Chuan Tan MD, MRCS, MMed, Deborah Ng MBBS, MRCS, MMed, Tavintharan Subramaniam MBBS, MRCP, MCI, Anton Cheng MBBS, FRACS, Su Chi Lim MBBS, MRCP, PhD

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Identification and clinical significance of somatic oncogenic mutations in epithelial ovarian cancer by Takafumi Watanabe, Hideaki Nanamiya, Yuta Endo, Manabu Kojima, Shinji Nomura, Shigenori Furukawa, Shu Soeda, Hirosumi Tamura, Masae Ryufuku, Daisuke Tanaka, Takao Isogai, Jun-ichi Imai, Shinya Watanabe, Keiya Fujimori

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More common RNAemia in the early stage of severe SARS-CoV-2 BF.7.14 infections in pediatric patients by Yu Sun, Runan Zhu, Yang Pan, Ri De, Shuang Liu, Liping Jia, Bing Lv, Xiaoyun Li, Dongmei Chen, Yao Yao, Dong Qu, Daitao Zhang, Linqing Zhao

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