Disease-causing Enhancer Variants: A Question of Penetrance
ICO Amplicon NGS Data Analysis: A Web Tool for Variant Detection in Common High-Risk Hereditary Cancer Genes Analyzed by Amplicon GS Junior Next-Generation Sequencing
Heterozygote PCR Product Melting Curve Prediction
DIAMUND: Direct Comparison of Genomes to Detect Mutations
A Homozygous Mutation in the TUB Gene Associated with Retinal Dystrophy and Obesity
Germline Mutations of Inhibins in Early-Onset Ovarian Epithelial Tumors
Novel Dynein DYNC1H1 Neck and Motor Domain Mutations Link Distal Spinal Muscular Atrophy and Abnormal Cortical Development
An Impairment of Long Distance SOX10 Regulatory Elements Underlies Isolated Hirschsprung Disease
Retinitis Pigmentosa Mutations of SNRNP200 Enhance Cryptic Splice-Site Recognition
Activating Mutations Cluster in the “Molecular Brake” Regions of Protein Kinases and Do Not Associate with Conserved or Catalytic Residues
Tumor Heterogeneity Revealed by KRAS , BRAF , and PIK3CA Pyrosequencing: KRAS and PIK3CA Intratumor Mutation Profile Differences and Their Therapeutic Implications
Gender and Cell-Type-Specific Effects of the Transcription-Coupled Repair Protein, ERCC6/CSB, on Repeat Expansion in a Mouse Model of the Fragile X-Related Disorders
Early Frameshift Mutation in PIGA Identified in a Large XLID Family Without Neonatal Lethality
Novel KCNQ2 and KCNQ3 Mutations in a Large Cohort of Families with Benign Neonatal Epilepsy: First Evidence for an Altered Channel Regulation by Syntaxin-1A
Mucolipidosis II-Related Mutations Inhibit the Exit from the Endoplasmic Reticulum and Proteolytic Cleavage of GlcNAc-1-Phosphotransferase Precursor Protein ( GNPTAB )
Increased Dosage of RAB39B Affects Neuronal Development and Could Explain the Cognitive Impairment in Male Patients with Distal Xq28 Copy Number Gains
Enhanced Sensitivity for Detection of Low-Level Germline Mosaic RB1 Mutations in Sporadic Retinoblastoma Cases Using Deep Semiconductor Sequencing
A New and More Accurate Estimate of the Rate of Concurrent Tandem-Base Substitution Mutations in the Human Germline: ˜0.4% of the Single-Nucleotide Substitution Mutation Rate