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Dideoxy DNA sequencing

Validation of an Ion Torrent Sequencing Platform for the Detection of Gene Mutations in Biopsy Specimens from Patients with Non-Small-Cell Lung Cancer

Shiro Fujita, Katsuhiro Masago, Jumpei Takeshita, Chiyuki Okuda, Kyoko Otsuka, Akito Hata, Reiko Kaji, Nobuyuki Katakami, Yukio Hirata

published 15 Jun 2015

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Combined Targeted DNA Sequencing in Non-Small Cell Lung Cancer (NSCLC) Using UNCseq and NGScopy, and RNA Sequencing Using UNCqeR for the Detection of Genetic Aberrations in NSCLC

Xiaobei Zhao, Anyou Wang, Vonn Walter, Nirali M. Patel, David A. Eberhard, Michele C. Hayward, Ashley H. Salazar, Heejoon Jo, Matthew G. Soloway, Matthew D. Wilkerson, Joel S. Parker, Xiaoying Yin, Guosheng Zhang, Marni B. Siegel, Gary B. Rosson, H. Shelton Earp III, Norman E. Sharpless, Margaret L. Gulley, Karen E. Weck, D. Neil Hayes, Stergios J. Moschos

published 15 Jun 2015

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A Systematic Assessment of Accuracy in Detecting Somatic Mosaic Variants by Deep Amplicon Sequencing: Application to NF2 Gene

Elisa Contini, Irene Paganini, Roberta Sestini, Luisa Candita, Gabriele Lorenzo Capone, Lorenzo Barbetti, Serena Falconi, Sabrina Frusconi, Irene Giotti, Costanza Giuliani, Francesca Torricelli, Matteo Benelli, Laura Papi

published 12 Jun 2015

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Mutation Burden of Rare Variants in Schizophrenia Candidate Genes

Simon L. Girard, Patrick A. Dion, Cynthia V. Bourassa, Steve Geoffroy, Pamela Lachance-Touchette, Amina Barhdadi, Mathieu Langlois, Ridha Joober, Marie-Odile Krebs, Marie-Pierre Dubé, Guy A. Rouleau

published 03 Jun 2015

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Evaluation of Two Highly-Multiplexed Custom Panels for Massively Parallel Semiconductor Sequencing on Paraffin DNA

Vassiliki Kotoula, Aggeliki Lyberopoulou, Kyriaki Papadopoulou, Elpida Charalambous, Zoi Alexopoulou, Chryssa Gakou, Sotiris Lakis, Eleftheria Tsolaki, Konstantinos Lilakos, George Fountzilas

published 03 Jun 2015

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Mitochondrial Mutations in Subjects with Psychiatric Disorders

Adolfo Sequeira, Brandi Rollins, Christophe Magnan, Mannis van Oven, Pierre Baldi, Richard M. Myers, Jack D. Barchas, Alan F. Schatzberg, Stanley J. Watson, Huda Akil, William E. Bunney, Marquis P. Vawter

published 26 May 2015

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Molecular and Functional Characterization of Three Different Postzygotic Mutations in PIK3CA-Related Overgrowth Spectrum (PROS) Patients: Effects on PI3K/AKT/mTOR Signaling and Sensitivity to PIK3 Inhibitors

Daria C. Loconte, Valentina Grossi, Cristina Bozzao, Giovanna Forte, Rosanna Bagnulo, Alessandro Stella, Patrizia Lastella, Mario Cutrone, Francesco Benedicenti, Francesco C. Susca, Margherita Patruno, Dora Varvara, Aldo Germani, Luciana Chessa, Nicola Laforgia, Romano Tenconi, Cristiano Simone, Nicoletta Resta

published 27 Apr 2015

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Dissecting Genomic Aberrations in Myeloproliferative Neoplasms by Multiplex-PCR and Next Generation Sequencing

Martin M. J. Kirschner, Mirle Schemionek, Claudia Schubert, Nicolas Chatain, Stephanie Sontag, Susanne Isfort, Nadina Ortiz-Brüchle, Karla Schmitt, Luisa Krüger, Klaus Zerres, Martin Zenke, Tim H. Brümmendorf, Steffen Koschmieder

published 20 Apr 2015

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A 1.6-Mb Microdeletion in Chromosome 17q22 Leads to NOG-Related Symphalangism Spectrum Disorder without Intellectual Disability

Xiuhong Pang, Huajie Luo, Yongchuan Chai, Xiaowen Wang, Lianhua Sun, Longxia He, Penghui Chen, Hao Wu, Tao Yang

published 27 Mar 2015

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APOBEC3A Is Implicated in a Novel Class of G-to-A mRNA Editing in WT1 Transcripts

Ahmadreza Niavarani, Erin Currie, Yasmin Reyal, Fernando Anjos-Afonso, Stuart Horswell, Emmanuel Griessinger, Jose Luis Sardina, Dominique Bonnet

published 25 Mar 2015

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Novel Rare Missense Variations and Risk of Autism Spectrum Disorder: Whole-Exome Sequencing in Two Families with Affected Siblings and a Two-Stage Follow-Up Study in a Japanese Population

Jun Egawa, Yuichiro Watanabe, Chenyao Wang, Emiko Inoue, Atsunori Sugimoto, Toshiro Sugiyama, Hirofumi Igeta, Ayako Nunokawa, Masako Shibuya, Itaru Kushima, Naoki Orime, Taketsugu Hayashi, Takashi Okada, Yota Uno, Norio Ozaki, Toshiyuki Someya

published 25 Mar 2015

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Genotyping on ALDH2: Comparison of Four Different Technologies

Lina Zhang, Jinzhao Zhao, Guanglin Cui, Hong Wang, Dao Wen Wang

published 24 Mar 2015

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Proxy Molecular Diagnosis from Whole-Exome Sequencing Reveals Papillon-Lefevre Syndrome Caused by a Missense Mutation in CTSC

A. Mesut Erzurumluoglu, Muslim M. Alsaadi, Santiago Rodriguez, Tahani S. Alotaibi, Philip A. I. Guthrie, Sian Lewis, Aasiya Ginwalla, Tom R. Gaunt, Khalid K. Alharbi, Fahad M. Alsaif, Basma M. Alsaadi, Ian N. M. Day

published 23 Mar 2015

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