Loss-of-function Mutation in the NOTCH3 Gene: Simply a Polymorphism?
The TREAT-NMD Duchenne Muscular Dystrophy Registries: Conception, Design, and Utilization by Industry and Academia
The Finnish Disease Heritage Database (FinDis) Update—A Database for the Genes Mutated in the Finnish Disease Heritage Brought to the Next-Generation Sequencing Era
Novel FOXF1 Deep Intronic Deletion Causes Lethal Lung Developmental Disorder, Alveolar Capillary Dysplasia with Misalignment of Pulmonary Veins
Mutation in TTI2 Reveals a Role for Triple T Complex in Human Brain Development
Inactivation of DNA Mismatch Repair by Variants of Uncertain Significance in the PMS2 Gene
Telomere Phenotypes in Females with Heterozygous Mutations in the Dyskeratosis Congenita 1 ( DKC1 ) Gene
Hypomorphic NOTCH3 Alleles Do Not Cause CADASIL in Humans
In Vitro Secretion Deficits are Common Among Human Coagulation Factor XIII Subunit B Missense Mutants: Correlations with Patient Phenotypes and Molecular Models
MTO1 Mutations are Associated with Hypertrophic Cardiomyopathy and Lactic Acidosis and Cause Respiratory Chain Deficiency in Humans and Yeast
NF1 Molecular Characterization and Neurofibromatosis Type I Genotype–Phenotype Correlation: The French Experience
Coffin–Siris Syndrome and the BAF Complex: Genotype–Phenotype Study in 63 Patients
Ferroportin Diseases: Functional Studies, a Link Between Genetic and Clinical Phenotype
Screening of a Large Cohort of Leber Congenital Amaurosis and Retinitis Pigmentosa Patients Identifies Novel LCA5 Mutations and New Genotype–Phenotype Correlations
Functional Analysis of a Large set of BRCA2 exon 7 Variants Highlights the Predictive Value of Hexamer Scores in Detecting Alterations of Exonic Splicing Regulatory Elements
Position of Glycine Substitutions in the Triple Helix of COL6A1 , COL6A2 , and COL6A3 is Correlated with Severity and Mode of Inheritance in Collagen VI Myopathies
Sensitive Detection of KRAS Mutations Using Enhanced- ice -COLD-PCR Mutation Enrichment and Direct Sequence Identification
Best Practices for Evaluating Mutation Prediction Methods
Clinical Applications of Next-Generation Sequencing: The 2013 Human Genome Variation Society Scientific Meeting