Human Cell Line Model for Cancer-Associated KRAS Noncoding SNP
Functional Assays for Analysis of Variants of Uncertain Significance in BRCA2
Insight into IKBKG / NEMO Locus: Report of New Mutations and Complex Genomic Rearrangements Leading to Incontinentia Pigmenti Disease
NPHS2 Mutations in Steroid-Resistant Nephrotic Syndrome: A Mutation Update and the Associated Phenotypic Spectrum
Seeing the Wood for the Trees: A Minimal Reference Phylogeny for the Human Y Chromosome
Distinct Patterns of Genetic Variations in Potential Functional Elements in Long Noncoding RNAs
Variobox: Automatic Detection and Annotation of Human Genetic Variants
Targeted Knock-in of the Polymorphism rs61764370 Does Not Affect KRAS Expression but Reduces let-7 Levels
Analysis of Crossover Breakpoints Yields New Insights into the Nature of the Gene Conversion Events Associated with Large NF1 Deletions Mediated by Nonallelic Homologous Recombination
Discovery and Functional Assessment of Gene Variants in the Vascular Endothelial Growth Factor Pathway
MYH9 -Related Disease: A Novel Prognostic Model to Predict the Clinical Evolution of the Disease Based on Genotype–Phenotype Correlations
A 129-kb Deletion on Chromosome 12 Confers Substantial Protection Against Rheumatoid Arthritis, Implicating the Gene SLC2A3
The ZZ Domain of Dystrophin in DMD: Making Sense of Missense Mutations
Lake Louise Mutation Detection Meeting 2013: Clinical Translation of Next-Generation Sequencing Requires Optimization of Workflows and Interpretation of Variants
A Short-Read Multiplex Sequencing Method for Reliable, Cost-Effective and High-Throughput Genotyping in Large-Scale Studies