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Dideoxy DNA sequencing

Recessive coding and regulatory mutations in FBLIM1 underlie the pathogenesis of chronic recurrent multifocal osteomyelitis (CRMO)

Allison J. Cox, Benjamin W. Darbro, Ronald M. Laxer, Gabriel Velez, Xinyu Bing, Alexis L. Finer, Albert Erives, Vinit B. Mahajan, Alexander G. Bassuk, Polly J. Ferguson

published 16 Mar 2017

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Screening of deafness-causing DNA variants that are common in patients of European ancestry using a microarray-based approach

Denise Yan, Guangxin Xiang, Xingping Chai, Jie Qing, Haiqiong Shang, Bing Zou, Rahul Mittal, Jun Shen, Richard J. H. Smith, Yao-Shan Fan, Susan H. Blanton, Mustafa Tekin, Cynthia Morton, Wanli Xing, Jing Cheng, Xue Zhong Liu

published 08 Mar 2017

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Targeted sequencing identifies a novel SH2D1A pathogenic variant in a Chinese family: Carrier screening and prenatal genetic testing

Jun-Yu Zhang, Song-Chang Chen, Yi-Yao Chen, Shu-Yuan Li, Lan-Lan Zhang, Ying-Hua Shen, Chun-Xin Chang, Yu-Qian Xiang, He-Feng Huang, Chen-Ming Xu

published 23 Feb 2017

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GLM-based optimization of NGS data analysis: A case study of Roche 454, Ion Torrent PGM and Illumina NextSeq sequencing data

Sarah Sandmann, Aniek O. de Graaf, Bert A. van der Reijden, Joop H. Jansen, Martin Dugas

published 21 Feb 2017

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Prognostic significance of SETBP1 mutations in myelodysplastic syndromes, chronic myelomonocytic leukemia, and chronic neutrophilic leukemia: A meta-analysis

Li-Hong Shou, Dan Cao, Xiao-Hui Dong, Qiu Fang, Ying Wu, Yan Zhang, Ju-Ping Fei, Bao-Lian Xu

published 03 Feb 2017

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Digital PCR Improves Mutation Analysis in Pancreas Fine Needle Aspiration Biopsy Specimens

Shonan Sho, Colin M. Court, Stephen Kim, David R. Braxton, Shuang Hou, V. Raman Muthusamy, Rabindra R. Watson, Alireza Sedarat, Hsian-Rong Tseng, James S. Tomlinson

published 26 Jan 2017

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DNA Metabarcoding of Amazonian Ichthyoplankton Swarms

M. E. Maggia, Y. Vigouroux, J. F. Renno, F. Duponchelle, E. Desmarais, J. Nunez, C. García-Dávila, F. M. Carvajal-Vallejos, E. Paradis, J. F. Martin, C. Mariac

published 17 Jan 2017

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Accurate Breakpoint Mapping in Apparently Balanced Translocation Families with Discordant Phenotypes Using Whole Genome Mate-Pair Sequencing

Constantia Aristidou, Costas Koufaris, Athina Theodosiou, Mads Bak, Mana M. Mehrjouy, Farkhondeh Behjati, George Tanteles, Violetta Christophidou-Anastasiadou, Niels Tommerup, Carolina Sismani

published 10 Jan 2017

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Novel and De Novo Mutations Extend Association of POU3F4 with Distinct Clinical and Radiological Phenotype of Hearing Loss

Agnieszka Pollak, Urszula Lechowicz, Anna Kędra, Piotr Stawiński, Małgorzata Rydzanicz, Mariusz Furmanek, Małgorzata Brzozowska, Maciej Mrówka, Henryk Skarżyński, Piotr H. Skarżyński, Monika Ołdak, Rafał Płoski

published 12 Dec 2016

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Identification of Immunoglobulin Gene Sequences from a Small Read Number of mRNA-Seq Using Hybridomas

Yuki Kuniyoshi, Kazumitsu Maehara, Takeshi Iwasaki, Masayasu Hayashi, Yuichiro Semba, Masatoshi Fujita, Yuko Sato, Hiroshi Kimura, Akihito Harada, Yasuyuki Ohkawa

published 27 Oct 2016

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Genetic Variants in Isolated Ebstein Anomaly Implicated in Myocardial Development Pathways

Robert J. Sicko, Marilyn L. Browne, Shannon L. Rigler, Charlotte M. Druschel, Gang Liu, Ruzong Fan, Paul A. Romitti, Michele Caggana, Denise M. Kay, Lawrence C. Brody, James L. Mills

published 27 Oct 2016

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A Specially Designed Multi-Gene Panel Facilitates Genetic Diagnosis in Children with Intrahepatic Cholestasis: Simultaneous Test of Known Large Insertions/Deletions

Neng-Li Wang, Yu-Lan Lu, Ping Zhang, Mei-Hong Zhang, Jing-Yu Gong, Yi Lu, Xin-Bao Xie, Yi-Ling Qiu, Yan-Yan Yan, Bing-bing Wu, Jian-She Wang

published 05 Oct 2016

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Multi-Center Evaluation of the Fully Automated PCR-Based Idylla^™ KRAS Mutation Assay for Rapid KRAS Mutation Status Determination on Formalin-Fixed Paraffin-Embedded Tissue of Human Colorectal Cancer

Jérôme Solassol, Julie Vendrell, Bruno Märkl, Christian Haas, Beatriz Bellosillo, Clara Montagut, Matthew Smith, Brendan O’Sullivan, Nicky D’Haene, Marie Le Mercier, Morten Grauslund, Linea Cecilie Melchior, Emma Burt, Finbarr Cotter, Daniel Stieber, Fernando de Lander Schmitt, Valentina Motta, Calogero Lauricella, Richard Colling, Elizabeth Soilleux, Matteo Fassan, Claudia Mescoli, Christine Collin, Jean-Christophe Pagès, Peter Sillekens

published 29 Sep 2016

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