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Dideoxy DNA sequencing

Single Nucleotide Variations in CLCN6 Identified in Patients with Benign Partial Epilepsies in Infancy and/or Febrile Seizures

Toshiyuki Yamamoto, Keiko Shimojima, Noriko Sangu, Yuta Komoike, Atsushi Ishii, Shinpei Abe, Shintaro Yamashita, Katsumi Imai, Tetsuo Kubota, Tatsuya Fukasawa, Tohru Okanishi, Hideo Enoki, Takuya Tanabe, Akira Saito, Toru Furukawa, Toshiaki Shimizu, Carol J. Milligan, Steven Petrou, Sarah E. Heron, Leanne M. Dibbens, Shinichi Hirose, Akihisa Okumura

published 20 Mar 2015

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Detection of BRAF V600 Mutations in Melanoma: Evaluation of Concordance between the Cobas® 4800 BRAF V600 Mutation Test and the Methods Used in French National Cancer Institute (INCa) Platforms in a Real-Life Setting

Samia Mourah, Marc G. Denis, Fabienne Escande Narducci, Jérôme Solassol, Jean-Louis Merlin, Jean-Christophe Sabourin, Jean-Yves Scoazec, L’Houcine Ouafik, Jean-François Emile, Remy Heller, Claude Souvignet, Loïc Bergougnoux, Jean-Philippe Merlio

published 19 Mar 2015

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Homozygosity Mapping and Targeted Sanger Sequencing Reveal Genetic Defects Underlying Inherited Retinal Disease in Families from Pakistan

Maleeha Maria, Muhammad Ajmal, Maleeha Azam, Nadia Khalida Waheed, Sorath Noorani Siddiqui, Bilal Mustafa, Humaira Ayub, Liaqat Ali, Shakeel Ahmad, Shazia Micheal, Alamdar Hussain, Syed Tahir Abbas Shah, Syeda Hafiza Benish Ali, Waqas Ahmed, Yar Muhammad Khan, Anneke I. den Hollander, Lonneke Haer-Wigman, Rob W. J. Collin, Muhammad Imran Khan, Raheel Qamar, Frans P. M. Cremers

published 16 Mar 2015

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Exome Sequencing Identifies a Novel Gene, WNK1, for Susceptibility to Pelvic Organ Prolapse (POP)

Shuquan Rao, Jinghe Lang, Lan Zhu, Juan Chen

published 04 Mar 2015

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An Efficient and Comprehensive Strategy for Genetic Diagnostics of Polycystic Kidney Disease

Tobias Eisenberger, Christian Decker, Milan Hiersche, Ruben C. Hamann, Eva Decker, Steffen Neuber, Valeska Frank, Hanno J. Bolz, Henry Fehrenbach, Lars Pape, Burkhard Toenshoff, Christoph Mache, Kay Latta, Carsten Bergmann

published 03 Feb 2015

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Novel Exons and Splice Variants in the Human Antibody Heavy Chain Identified by Single Cell and Single Molecule Sequencing

Christopher Vollmers, Lolita Penland, Jad N. Kanbar, Stephen R. Quake

published 22 Jan 2015

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Detection of SRSF2-P95 Mutation by High-Resolution Melting Curve Analysis and Its Effect on Prognosis in Myelodysplastic Syndrome

Jiang Lin, Jing Yang, Xiang-mei Wen, Lei Yang, Zhao-qun Deng, Zhen Qian, Ji-chun Ma, Hong Guo, Ying-ying Zhang, Wei Qian, Jun Qian

published 26 Dec 2014

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Identification of Two Missense Mutations of ERCC6 in Three Chinese Sisters with Cockayne Syndrome by Whole Exome Sequencing

Shanshan Yu, Liyuan Chen, Lili Ye, Lingna Fei, Wei Tang, Yujiao Tian, Qian Geng, Xin Yi, Jiansheng Xie

published 02 Dec 2014

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The Accuracy, Feasibility and Challenges of Sequencing Short Tandem Repeats Using Next-Generation Sequencing Platforms

Monika Zavodna, Andrew Bagshaw, Rudiger Brauning, Neil J. Gemmell

published 01 Dec 2014

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Exome Sequencing Identifies Three Novel Candidate Genes Implicated in Intellectual Disability

Zehra Agha, Zafar Iqbal, Maleeha Azam, Humaira Ayub, Lisenka E. L. M. Vissers, Christian Gilissen, Syeda Hafiza Benish Ali, Moeen Riaz, Joris A. Veltman, Rolph Pfundt, Hans van Bokhoven, Raheel Qamar

published 18 Nov 2014

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Whole-Genome Sequencing of the World’s Oldest People

Hinco J. Gierman, Kristen Fortney, Jared C. Roach, Natalie S. Coles, Hong Li, Gustavo Glusman, Glenn J. Markov, Justin D. Smith, Leroy Hood, L. Stephen Coles, Stuart K. Kim

published 12 Nov 2014

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A Bumpy Ride on the Diagnostic Bench of Massive Parallel Sequencing, the Case of the Mitochondrial Genome

Kim Vancampenhout, Ben Caljon, Claudia Spits, Katrien Stouffs, An Jonckheere, Linda De Meirleir, Willy Lissens, Arnaud Vanlander, Joél Smet, Boel De Paepe, Rudy Van Coster, Sara Seneca

published 10 Nov 2014

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Whole-Exome Sequencing to Decipher the Genetic Heterogeneity of Hearing Loss in a Chinese Family with Deaf by Deaf Mating

Jie Qing, Denise Yan, Yuan Zhou, Qiong Liu, Weijing Wu, Zian Xiao, Yuyuan Liu, Jia Liu, Lilin Du, Dinghua Xie, Xue Zhong Liu

published 07 Oct 2014

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