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Dideoxy DNA sequencing

Optimized Multiplex Detection of 7 KRAS Mutations by Taqman Allele-Specific qPCR

Andrea Orue, Manuel Rieber

published 15 Sep 2016

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GNAI3: Another Candidate Gene to Screen in Persons with Ocular Albinism

Alejandra Young, Uma Dandekar, Calvin Pan, Avery Sader, Jie J. Zheng, Richard A. Lewis, Debora B. Farber

published 08 Sep 2016

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National Prociency Testing Result of CYP2D6*10 Genotyping for Adjuvant Tamoxifen Therapy in China

Guigao Lin, Kuo Zhang, Lang Yi, Yanxi Han, Jiehong Xie, Jinming Li

published 07 Sep 2016

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Establishment of a Flexible Real-Time Polymerase Chain Reaction-Based Platform for Detecting Prevalent Deafness Mutations Associated with Variable Degree of Sensorineural Hearing Loss in Koreans

Kyu-Hee Han, Ah Reum Kim, Min Young Kim, Soyeon Ahn, Seung-Ha Oh, Ju Hun Song, Byung Yoon Choi

published 01 Sep 2016

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Hemophagocytic Lymphohistocytosis in the Chinese Han Population May Be Associated with an STXBP2 Gene Polymorphism

Li Yang, Yang Tang, Fang’Xi Xiao, Jie Xiong, Ke’Feng Shen, Ya’Nan Liu, Wei Zhang, Li’Chang Zheng, Jian’Feng Zhou, Min Xiao

published 11 Aug 2016

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Comparative Methods to Improve the Detection of BRAF V600 Mutations in Highly Pigmented Melanoma Specimens

Eric Frouin, Thierry Maudelonde, Romain Senal, Marion Larrieux, Valérie Costes, Sylvain Godreuil, Julie A. Vendrell, Jérôme Solassol

published 28 Jul 2016

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Identification of Novel and Recurrent Disease-Causing Mutations in Retinal Dystrophies Using Whole Exome Sequencing (WES): Benefits and Limitations

Amit Tiwari, Johannes Lemke, Janine Altmueller, Holger Thiele, Esther Glaus, Johannes Fleischhauer, Peter Nürnberg, John Neidhardt, Wolfgang Berger

published 08 Jul 2016

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Whole Exome Sequencing and Segregation Analysis Confirms That a Mutation in COL17A1 Is the Cause of Epithelial Recurrent Erosion Dystrophy in a Large Dominant Pedigree Previously Mapped to Chromosome 10q23-q24

Benjamin R. Lin, Derek J. Le, Yabin Chen, Qiwei Wang, D. Doug Chung, Ricardo F. Frausto, Christopher Croasdale, Richard W. Yee, Fielding J. Hejtmancik, Anthony J. Aldave

published 16 Jun 2016

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Authentication of Herbal Supplements Using Next-Generation Sequencing

Natalia V. Ivanova, Maria L. Kuzmina, Thomas W. A. Braukmann, Alex V. Borisenko, Evgeny V. Zakharov

published 26 May 2016

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Exome Sequencing Identifies a Novel LMNA Splice-Site Mutation and Multigenic Heterozygosity of Potential Modifiers in a Family with Sick Sinus Syndrome, Dilated Cardiomyopathy, and Sudden Cardiac Death

Michael V. Zaragoza, Lianna Fung, Ember Jensen, Frances Oh, Katherine Cung, Linda A. McCarthy, Christine K. Tran, Van Hoang, Simin A. Hakim, Anna Grosberg

published 16 May 2016

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Whole Exome Sequencing Reveals Homozygous Mutations in RAI1, OTOF, and SLC26A4 Genes Associated with Nonsyndromic Hearing Loss in Altaian Families (South Siberia)

Alexander Y. Сhurbanov, Tatiana M. Karafet, Igor V. Morozov, Valeriia Yu. Mikhalskaia, Marina V. Zytsar, Alexander A. Bondar, Olga L. Posukh

published 15 Apr 2016

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Development of a Melting Curve-Based Allele-Specific PCR of Apolipoprotein E (APOE) Genotyping Method for Genomic DNA, Guthrie Blood Spot, and Whole Blood

Chia-Hsiang Chen

published 14 Apr 2016

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Comparison of Xpert MTB/RIF Assay and GenoType MTBDRplus DNA Probes for Detection of Mutations Associated with Rifampicin Resistance in Mycobacterium tuberculosis

Arfatur Rahman, Mahfuza Sahrin, Sadia Afrin, Keith Earley, Shahriar Ahmed, S. M. Mazidur Rahman, Sayera Banu

published 07 Apr 2016

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