▪ Neurofibromatosis Type 1 Antisense Therapy on the Horizon?
□ Converging on Alzheimer Disease Loci in Chromosome 10
Somatic Mutation Databases as Tools for Molecular Epidemiology and Molecular Pathology of Cancer: Proposed Guidelines for Improving Data Collection, Distribution, and Integration
Genomic Microarrays in Mental Retardation: A Practical Workflow for Diagnostic Applications
Theoretic Applicability of Antisense-Mediated Exon Skipping for Duchenne Muscular Dystrophy Mutations
Mutations and Polymorphisms in the Human Argininosuccinate Synthetase (ASS1) Gene
A1ATVar: A Relational Database of Human SERPINA1 Gene Variants Leading to α1-Antitrypsin Deficiency and Application of the VariVis Software
Annotated Chromosome Maps for Renal Disease
Identification of Mutations in the Ribosomal Protein L5 (RPL5) and Ribosomal Protein L11 (RPL11) Genes in Czech Patients With Diamond-Blackfan Anemia
Mechanistic Insights Into the Link Between a Polymorphism of the 3'UTR of the SLC7A1 Gene and Hypertension
Comprehensive Clinical and Molecular Assessment of 32 Probands With Congenital Contractural Arachnodactyly: Report of 14 Novel Mutations and Review of the Literature
Mutations in NR2E3 Can Cause Dominant or Recessive Retinal Degenerations in the Same Family
Oncogenic HRAS Mutations Cause Prolonged PI3K Signaling in Response to Epidermal Growth Factor in Fibroblasts of Patients With Costello Syndrome
Diagnostic Yield, Interpretation, and Clinical Utility of Mutation Screening of Sarcomere Encoding Genes in Danish Hypertrophic Cardiomyopathy Patients and Relatives
SNP Array Mapping of Chromosome 20p Deletions: Genotypes, Phenotypes, and Copy Number Variation
Classic and Atypical Fibrodysplasia Ossificans Progressiva (FOP) Phenotypes Are Caused by Mutations in the Bone Morphogenetic Protein (BMP) Type I Receptor ACVR1
An Inherited Mitochondrial DNA Disruptive Mutation Shifts to Homoplasmy in Oncocytic Tumor Cells
Two Novel CLCN2 Mutations Accelerating Chloride Channel Deactivation Are Associated With Idiopathic Generalized Epilepsy
ATP13A2 Variability in Parkinson Disease
A Mutation in the SEPN1 Selenocysteine Redefinition Element (SRE) Reduces Selenocysteine Incorporation and Leads to SEPN1 -Related Myopathy
Haplotypes of the NR4A2/NURR1 Gene and Cardiovascular Disease: The Rotterdam Study
Fertility Defects Revealing Germline Biallelic Nonsense NBN Mutations
Protein Sequences Encode Safeguards Against Aggregation
Genotype-Phenotype Relationships in Trichothiodystrophy Patients With Novel Splicing Mutations in the XPD Gene
Fifteen Novel Mutations in PKLR Associated with Pyruvate Kinase (PK) Deficiency: Structural Implications of Amino Acid Substitutions in PK
Antisense Therapeutics for Neurofibromatosis Type 1 Caused by Deep Intronic Mutations
Genomic Convergence to Identify Candidate Genes for Alzheimer Disease on Chromosome 10
Simultaneous Mutation and Copy Number Variation (CNV) Detection by Multiplex PCR-Based GS-FLX Sequencing
An Integrated Approach for Measuring Copy Number Variation at the FCGR3 (CD16) Locus
Combining the Interactome and Deleterious SNP Predictions to Improve Disease Gene Identification
MedRefSNP: A Database of Medically Investigated SNPs
Identification of Novel Mutations and Sequence Variation in the Zellweger Syndrome Spectrum of Peroxisome Biogenesis Disorders
The Proportion of Mutations Predicted To Have a Deleterious Effect Differs Between Gain and Loss of Function Genes in Neurodegenerative Disease
How Much Mutant Protein Is Needed to Cause a Protein Aggregate Myopathy in Vivo? Lessons from an Exceptional Desminopathy
Screening of ARHSP-TCC Patients Expands the Spectrum of SPG11 Mutations and Includes a Large Scale Gene Deletion
Ten Novel HMGCL Mutations in 24 Patients of Different Origin with 3-Hydroxy-3-Methyl-Glutaric Aciduria
Mutations in MFSD8 / CLN7 Are a Frequent Cause of Variant-Late Infantile Neuronal Ceroid Lipofuscinosis