Search Results - "next generation sequencing"

Xanthomas Can Be Misdiagnosed and Mistreated in Homozygous Familial Hypercholesterolemia Patients: A Call for Increased Awareness Among Dermatologists and Health Care Practitioners by Fahad Alnouri, Faisal A. Al-Allaf, Mohammad Athar, Zainularifeen Abduljaleel, Moheeb Alabdullah, Dalal Alammari, Menwar Alanazi, Fahmi Alkaf, Abeer Allehyani, Mohammad A. Alotaiby, Abdullah Alshehri, Abdellatif Bouazzaoui, Hussam Karrar, Mohiuddin M. Taher

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Novel compound heterozygous MYO15A splicing variants in autosomal recessive non-syndromic hearing loss by Kaifeng Zheng, Sheng Lin, Jian Gao, Shiguo Chen, Jindi Su, Zhiqiang Liu, Shan Duan

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Diagnosis of pathogens causing bacterial meningitis using Nanopore sequencing in a resource-limited setting by Srinivas Reddy Pallerla, Do Van Dong, Le Thi Kieu Linh, Trinh Van Son, Dao Thanh Quyen, Phan Quoc Hoan, Ngo Tat Trung, Nguyen Trong The, Jule Rüter, Sébastien Boutin, Dennis Nurjadi, Bui Tien Sy, Peter G. Kremsner, Christian G. Meyer, Le Huu Song, Thirumalaisamy P. Velavan

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Despite low viral titer in saliva samples, Sanger-based SARS-CoV-2 spike gene sequencing is highly applicable for the variant identification by Ko Ko, Kazuaki Takahashi, Noriaki Ito, Aya Sugiyama, Shintaro Nagashima, Kei Miwata, Yoshihiro Kitahara, Mafumi Okimoto, Serge Ouoba, Golda Ataa Akuffo, Bunthen E, Tomoyuki Akita, Toshiro Takafuta, Junko Tanaka

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Targeted RNA-sequencing analysis for fusion transcripts detection in tumor diagnostics: assessment of bioinformatic tools reliability in FFPE samples by Iolanda Capone, Fabio Bozzi, Gian Paolo Dagrada, Paolo Verderio, Elena Conca, Adele Busico, Maria Adele Testi, Valentina Monti, Matteo Duca, Claudia Proto, Silvia Damian, Alberta Piccolo, Federica Perrone, Elena Tamborini, Andrea Devecchi, Paola Collini, Daniele Lorenzini, Andrea Vingiani, Luca Agnelli, Giancarlo Pruneri

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A novel NGS‐based diagnostic algorithm for classifying multifocal lung adenocarcinomas in pN0M0 patients by Xin Zhang, Xiaoxi Fan, Changbo Sun, Liang Wang, Yuan Miao, Liming Wang, Peng Yang, Yang Xu, Xue Ren, Xue Wu, Shun Xu

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Meta-Analysis Using NGS Data: The Veillonella Species in Dental Caries by Naile Dame-Teixeira, Naile Dame-Teixeira, Ana Karolina Almeida de Lima, Thuy Do, Cristine Miron Stefani

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GENOTYPE-PHENOTYPE CORRELATIONS OF THE COURSE OF CYSTIC FIBROSIS IN RUSSIAN CHILDREN. THE FIRST DESCRIPTION OF ELEVEN NEW MUTATIONS by Yulia V. Gorinova, Kirill V. Savostyanov, Alexandr A. Pushkov, Alexey G. Nikitin, Evgeniy L. Pen'kov, Stanislav A. Krasovskiy, Olga I. Simonova, L. S. Namazova-Baranova

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A Public Dialogue to Inform the Use of Wider Genomic Testing When Used as Part of Newborn Screening to Identify Cystic Fibrosis by Suzannah Kinsella, Henrietta Hopkins, Lauren Cooper, James R. Bonham

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Gene Mutation Mapping in a Fatal Case of Phacomatosis Pigmentokeratotica Happle by Kinan Hayani, Kathrin Giehl, Jörg Kumbrink, Judith Fischer, Max Schlaak, Lars E. French, Andreas Wollenberg

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Cutaneous breast cancer of unknown primary by Iman Salem, MD, MS, Raven Bennett, BA, Emma L. Hodson, MS, Gabrielle E. Duprat, MD, Hayden Doughty, BSc, Natalia Georgantzoglou, MD, Konstantinos Linos, MD, Mary D. Chamberlin, MD, M. Shane Chapman, MD, MBA

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De Novo Mutations in Patients with Ataxic CP by Sonika Agarwal, Lisa Emrick

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Clinical Microbiology: where do we stand? by Alkiviadis Vatopoulos

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Bioinformatics

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Can TP53 variant negative be high-grade serous ovarian carcinoma? A case series by Lawrence Kasherman, Swati Garg, Nairi Tchrakian, Blaise Clarke, Katherine Karakasis, Raymond H. Kim, Tracy L. Stockley, Neesha Dhani, Amit M. Oza, Stephanie Lheureux

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Insights into the pathophysiology of DFNA44 hearing loss associated with CCDC50 frameshift variants by María Lachgar-Ruiz, Matías Morín, Elisa Martelletti, Neil J. Ingham, Lorenzo Preite, Morag A. Lewis, Luciana Santos Serrão de Castro, Karen P. Steel, Miguel Ángel Moreno-Pelayo

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Pharmacogenomics: what is next? by Julia edi Iulio, Margalida eRotger

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A summary of the molecular testing recommended in acute myeloid leukemia by Ruth Stuckey, Cristina Bilbao-Sieyro, María Teresa Gómez-Casares

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Perceived utility and feasibility of pathogen genomics for public health practice: a survey among public health professionals working in the field of infectious diseases, Belgium,... by N. Van Goethem, M. J. Struelens, S. C. J. De Keersmaecker, N. H. C. Roosens, A. Robert, S. Quoilin, H. Van Oyen, B. Devleesschauwer

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Implementation of an NGS panel for clinical practice in paraffin-embedded tissue samples from locally advanced and metastatic melanoma patients by Paola Castillo, Marta Marginet, Pedro Jares, Mireia García, Elena Gonzalvo, Ana Arance, Adriana García, Llucia Alos, Cristina Teixido

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