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Dideoxy DNA sequencing

Germline and somatic mutations in cortical malformations: Molecular defects in Argentinean patients with neuronal migration disorders

Dolores González-Morón, Sebastián Vishnopolska, [ ... ], Marcelo Andrés Kauffman

Efficient generation of mutations mediated by CRISPR/Cas9 in the hairy root transformation system of Brassica carinata

Thomas W. Kirchner, Markus Niehaus, [ ... ], Marco Herde

Optimized detection of insertions/deletions (INDELs) in whole-exome sequencing data

Bo-Young Kim, Jung Hoon Park, [ ... ], Mi-Hyun Park

Additional value of screening for minor genes and copy number variants in hypertrophic cardiomyopathy

Irene Mademont-Soler, Jesus Mates, [ ... ], Ramon Brugada

Contribution of exome sequencing for genetic diagnostic in arrhythmogenic right ventricular cardiomyopathy/dysplasia

Joel Fedida, Veronique Fressart, [ ... ], Estelle Gandjbakhch

Increased genetic diversity and prevalence of co-infection with Trypanosoma spp. in koalas (Phascolarctos cinereus) and their ticks identified using next-generation sequencing (NGS)

Amanda D. Barbosa, Alexander W. Gofton, [ ... ], Una Ryan

A novel frameshift mutation of SMPX causes a rare form of X-linked nonsyndromic hearing loss in a Chinese family

Zhijie Niu, Yong Feng, [ ... ], Lu Jiang

Prevalence and extent of heteroresistance by next generation sequencing of multidrug-resistant tuberculosis

Darwin J. Operario, Alexander F. Koeppel, [ ... ], Eric R. Houpt

Performance of TaqMan array card to detect TB drug resistance on direct specimens

Sayera Banu, Suporn Pholwat, [ ... ], Eric R. Houpt

Inheritance patterns of ATCCT repeat interruptions in spinocerebellar ataxia type 10 (SCA10) expansions

Ivette Landrian, Karen N. McFarland, [ ... ], Tetsuo Ashizawa

Deep sequencing is an appropriate tool for the selection of unique Hepatitis C virus (HCV) variants after single genomic amplification

Thibault Guinoiseau, Alain Moreau, [ ... ], Catherine Gaudy-Graffin

Recessive coding and regulatory mutations in FBLIM1 underlie the pathogenesis of chronic recurrent multifocal osteomyelitis (CRMO)

Allison J. Cox, Benjamin W. Darbro, [ ... ], Polly J. Ferguson

Screening of deafness-causing DNA variants that are common in patients of European ancestry using a microarray-based approach

Denise Yan, Guangxin Xiang, [ ... ], Xue Zhong Liu

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