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Frameshift mutation

Whole Genome Sequencing Reveals Complex Evolution Patterns of Multidrug-Resistant Mycobacterium tuberculosis Beijing Strains in Patients

Matthias Merker, Thomas A. Kohl, [ ... ], Stefan Niemann

A High-Throughput Colorimetric Screening Assay for Terpene Synthase Activity Based on Substrate Consumption

Maiko Furubayashi, Mayu Ikezumi, [ ... ], Daisuke Umeno

Runx1 Loss Minimally Impacts Long-Term Hematopoietic Stem Cells

Xiongwei Cai, Justin J. Gaudet, [ ... ], Nancy A. Speck

Molecular Diagnosis of Neonatal Diabetes Mellitus Using Next-Generation Sequencing of the Whole Exome

Amélie Bonnefond, Emmanuelle Durand, [ ... ], Philippe Froguel

Hypertrophic cardiomyopathy clinical phenotype is independent of gene mutation and mutation dosage

Shiv Kumar Viswanathan, Heather K. Sanders, [ ... ], Sakthivel Sadayappan

Genome-Wide Survey of Pseudogenes in 80 Fully Re-sequenced Arabidopsis thaliana Accessions

Long Wang, Weina Si, [ ... ], Sihai Yang

Expression of Wild-Type Rp1 Protein in Rp1 Knock-in Mice Rescues the Retinal Degeneration Phenotype

Qin Liu, Rob W. J. Collin, [ ... ], Eric A. Pierce

Mutation Detection in Patients with Retinal Dystrophies Using Targeted Next Generation Sequencing

Nicole Weisschuh, Anja K. Mayer, [ ... ], Bernd Wissinger

DMD Mutations in 576 Dystrophinopathy Families: A Step Forward in Genotype-Phenotype Correlations

Jonas Juan-Mateu, Lidia Gonzalez-Quereda, [ ... ], Pia Gallano

Evolution of a Major Drug Metabolizing Enzyme Defect in the Domestic Cat and Other Felidae: Phylogenetic Timing and the Role of Hypercarnivory

Binu Shrestha, J. Michael Reed, [ ... ], Michael H. Court

Mutation spectrum of RB1 mutations in retinoblastoma cases from Singapore with implications for genetic management and counselling

Swati Tomar, Raman Sethi, [ ... ], Poh San Lai

Genome Analysis of Treponema pallidum subsp. pallidum and subsp. pertenue Strains: Most of the Genetic Differences Are Localized in Six Regions

Lenka Mikalová, Michal Strouhal, [ ... ], David Šmajs

Whole Genome Sequencing Reveals a De Novo SHANK3 Mutation in Familial Autism Spectrum Disorder

Sergio I. Nemirovsky, Marta Córdoba, [ ... ], Marcelo A. Kauffman

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