Accepted Article Preprints, “In This Issue” Featured Papers, and Updated Design for Human Mutation in 2009
▪ MITOMASTER: A Model for Locus-Specific Mutation Databases
▪ Steps Toward Restoring Functional Dystrophin Expression
▪ Continental SNPs Go Public: New Ancestry Informative Markers for Follow-up Association Studies
MITOMASTER: A Bioinformatics Tool for the Analysis of Mitochondrial DNA Sequences
IDH1 Mutations at Residue p.R132 ( IDH1R132 ) Occur Frequently in High-Grade Gliomas But Not in Other Solid Tumors
Functional and Computational Assessment of Missense Variants in the Ataxia-Telangiectasia Mutated (ATM) Gene: Mutations With Increased Cancer Risk
Characterization of a Complex Duchenne Muscular Dystrophy-Causing Dystrophin Gene Inversion and Restoration of the Reading Frame by Induced Exon Skipping
Novel Pathogenic Mechanism Suggested by Ex Vivo Analysis of MCT8 (SLC16A2) Mutations
Genomic Analysis of Cancer Tissue Reveals That Somatic Mutations Commonly Occur in a Specific Motif
Lipoprotein Lipase Variants Associated With an Endophenotype of Hypertension: Hypertension Combined With Elevated Triglycerides
Genetic Variation in the Urea Cycle: A Model Resource for Investigating Key Candidate Genes for Common Diseases
A Balanced Chromosomal Translocation Disrupting ARHGEF9 Is Associated With Epilepsy, Anxiety, Aggression, and Mental Retardation
Ancestry Informative Marker Sets for Determining Continental Origin and Admixture Proportions in Common Populations in America
Common Genetic Variants in Pre-MicroRNAs Were Associated With Increased Risk of Breast Cancer in Chinese Women
Glial Cells Missing-2 (GCM2) Transactivates the Calcium-Sensing Receptor Gene: Effect of a Dominant-Negative GCM2 Mutant Associated With Autosomal Dominant Hypoparathyroidism
Genotype-Phenotype Correlation in PEX5-Deficient Peroxisome Biogenesis Defective Cell Lines
Computational Prediction of the Functional Effects of Amino Acid Substitutions in Signal Peptides Using a Model-Based Approach
Intronic Variants in BRCA1 and BRCA2 That Affect RNA Splicing Can Be Reliably Selected by Splice-Site Prediction Programs
Validation of Microarray-Based Resequencing of 93 Worldwide Mitochondrial Genomes
A Yeast Recombination Assay to Characterize Human BRCA1 Missense Variants of Unknown Pathological Significance