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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, [ ... ], Yukio Hirata

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, [ ... ], Stergios J. Moschos

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

Elisa Contini, Irene Paganini, [ ... ], Laura Papi

Mutation Burden of Rare Variants in Schizophrenia Candidate Genes

Simon L. Girard, Patrick A. Dion, [ ... ], Guy A. Rouleau

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

Vassiliki Kotoula, Aggeliki Lyberopoulou, [ ... ], George Fountzilas

Mitochondrial Mutations in Subjects with Psychiatric Disorders

Adolfo Sequeira, Brandi Rollins, [ ... ], Marquis P. Vawter

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, [ ... ], Nicoletta Resta

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

Martin M. J. Kirschner, Mirle Schemionek, [ ... ], Steffen Koschmieder

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

Xiuhong Pang, Huajie Luo, [ ... ], Tao Yang

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

Ahmadreza Niavarani, Erin Currie, [ ... ], Dominique Bonnet

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, [ ... ], Toshiyuki Someya

Genotyping on ALDH2: Comparison of Four Different Technologies

Lina Zhang, Jinzhao Zhao, [ ... ], Dao Wen Wang

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

A. Mesut Erzurumluoglu, Muslim M. Alsaadi, [ ... ], Ian N. M. Day

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