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Dideoxy DNA sequencing

Analysis of POFUT1 Gene Mutation in a Chinese Family with Dowling-Degos Disease

Mingfei Chen, Yi Li, Hong Liu, Xi'an Fu, Yiongxiang Yu, Gongqi Yu, Chuan Wang, Fangfang Bao, Herty Liany, Zhenzhen Wang, Zhongxiang Shi, Dizhan Zhang, Guizhi Zhou, Jianjun Liu, Furen Zhang

published 26 Aug 2014

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Targeted High-Throughput Sequencing Identifies Pathogenic Mutations in KCNQ4 in Two Large Chinese Families with Autosomal Dominant Hearing Loss

Hongyang Wang, Yali Zhao, Yuting Yi, Yun Gao, Qiong Liu, Dayong Wang, Qian Li, Lan Lan, Na Li, Jing Guan, Zifang Yin, Bing Han, Feifan Zhao, Liang Zong, Wenping Xiong, Lan Yu, Lijie Song, Xin Yi, Ling Yang, Christine Petit, Qiuju Wang

published 12 Aug 2014

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High Resolution Melting Analysis: A Rapid and Accurate Method to Detect CALR Mutations

Cristina Bilbao-Sieyro, Guillermo Santana, Melania Moreno, Laura Torres, Gonzalo Santana-Lopez, Carlos Rodriguez-Medina, María Perera, Beatriz Bellosillo, Silvia de la Iglesia, Teresa Molero, Maria Teresa Gomez-Casares

published 28 Jul 2014

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Exome Sequencing of 18 Chinese Families with Congenital Cataracts: A New Sight of the NHS Gene

Wenmin Sun, Xueshan Xiao, Shiqiang Li, Xiangming Guo, Qingjiong Zhang

published 26 Jun 2014

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High-Throughput Sequencing Analysis of Post-Liver Transplantation HCV E2 Glycoprotein Evolution in the Presence and Absence of Neutralizing Monoclonal Antibody

Gregory J. Babcock, Sowmya Iyer, Heidi L. Smith, Yang Wang, Kirk Rowley, Donna M. Ambrosino, Phillip D. Zamore, Brian G. Pierce, Deborah C. Molrine, Zhiping Weng

published 23 Jun 2014

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Whole Genome and Exome Sequencing of Monozygotic Twins with Trisomy 21, Discordant for a Congenital Heart Defect and Epilepsy

Pongsathorn Chaiyasap, Supasak Kulawonganunchai, Chalurmpon Srichomthong, Sissades Tongsima, Kanya Suphapeetiporn, Vorasuk Shotelersuk

published 20 Jun 2014

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Exome Sequencing Identifies DLG1 as a Novel Gene for Potential Susceptibility to Crohn's Disease in a Chinese Family Study

Shufang Xu, Feng Zhou, Jinsheng Tao, Lu Song, Siew Chien NG, Xiaobing Wang, Liping Chen, Fengming Yi, Zhihua Ran, Rui Zhou, Bing Xia

published 17 Jun 2014

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Whole Exome Sequencing Identifies New Causative Mutations in Tunisian Families with Non-Syndromic Deafness

Zied Riahi, Crystel Bonnet, Rim Zainine, Malek Louha, Yosra Bouyacoub, Nadia Laroussi, Mariem Chargui, Rym Kefi, Laurence Jonard, Imen Dorboz, Jean-Pierre Hardelin, Sihem Belhaj Salah, Jacqueline Levilliers, Dominique Weil, Kenneth McElreavey, Odile Tanguy Boespflug, Ghazi Besbes, Sonia Abdelhak, Christine Petit

published 13 Jun 2014

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The Validation and Clinical Implementation of BRCAplus: A Comprehensive High-Risk Breast Cancer Diagnostic Assay

Hansook Kim Chong, Tao Wang, Hsiao-Mei Lu, Sara Seidler, Hong Lu, Steven Keiles, Elizabeth C. Chao, A. J. Stuenkel, Xiang Li, Aaron M. Elliott

published 15 May 2014

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Is DNA Barcoding Actually Cheaper and Faster than Traditional Morphological Methods: Results from a Survey of Freshwater Bioassessment Efforts in the United States?

Eric D. Stein, Maria C. Martinez, Sara Stiles, Peter E. Miller, Evgeny V. Zakharov

published 22 Apr 2014

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Mutation Spectrum of Six Genes in Chinese Phenylketonuria Patients Obtained through Next-Generation Sequencing

Ying Gu, Kangmo Lu, Guanghui Yang, Zhong Cen, Li Yu, Lin Lin, Jing Hao, Zhigang Yang, Jiabao Peng, Shujian Cui, Jian Huang

published 04 Apr 2014

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Mass Spectrometry-Based Comparative Sequence Analysis for the Genetic Monitoring of Influenza A(H1N1)pdm09 Virus

Jairo Gooskens, Jessika C. Zevenhoven-Dobbe, Eric C. Claas, Aloys C. M. Kroes, Clara C. Posthuma

published 03 Apr 2014

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Massively Parallel Sequencing of Patients with Intellectual Disability, Congenital Anomalies and/or Autism Spectrum Disorders with a Targeted Gene Panel

Maggie Brett, John McPherson, Zhi Jiang Zang, Angeline Lai, Ee-Shien Tan, Ivy Ng, Lai-Choo Ong, Breana Cham, Patrick Tan, Steve Rozen, Ene-Choo Tan

published 01 Apr 2014

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