▪ The Mutome and the 100,000 Mutation Milestone
▪ Usher Syndrome Splicing Variants Evaluated in Nasal Epithelial Cells
The Expanding Universe of Cohesin Functions: A New Genome Stability Caretaker Involved in Human Disease and Cancer
Genes, Mutations, and Human Inherited Disease at the Dawn of the Age of Personalized Genomics
Overview of the Mutation Spectrum in Familial Exudative Vitreoretinopathy and Norrie Disease with Identification of 21 Novel Variants in FZD4, LRP5, and NDP
KMeyeDB : A Graphical Database of Mutations in Genes That Cause Eye Diseases
Performance of Protein Stability Predictors
Allelic Imbalance of Expression and Epigenetic Regulation within the Alpha-Synuclein Wild-Type and p.Ala53Thr Alleles in Parkinson Disease
Predicting Functional Significance of Cancer-Associated p16INK4a Mutations in CDKN2A
Role of SFRS13A in Low-Density Lipoprotein Receptor Splicing
Functional Consequences and Rescue Potential of Pathogenic Missense Mutations in Tripeptidyl Peptidase I
Mutations in MEF2C from the 5q14.3q15 Microdeletion Syndrome Region Are a Frequent Cause of Severe Mental Retardation and Diminish MECP2 and CDKL5 Expression
Nasal Epithelial Cells are a Reliable Source to Study Splicing Variants in Usher Syndrome
A Novel Third Type of Recurrent NF1 Microdeletion Mediated by Nonallelic Homologous Recombination between LRRC37B -Containing Low-Copy Repeats in 17q11.2
Functionality of Sequence Variants in the Genes Coding for the Low-Density Lipoprotein Receptor and Apolipoprotein B in Individuals with Inherited Hypercholesterolemia
Are We Overestimating the Penetrance of Mutations in SDHB ?
Heterozygous SOX9 Mutations Allowing for Residual DNA-binding and Transcriptional Activation Lead to the Acampomelic Variant of Campomelic Dysplasia
Mutations in Alternative Pathway Complement Proteins in American Patients with Atypical Hemolytic Uremic Syndrome
Stickler Syndrome and the Vitreous Phenotype: Mutations in COL2A1 and COL11A1
Two Novel CRX Mutant Proteins Causing Autosomal Dominant Leber Congenital Amaurosis Interact Differently With NRL
Detection of Splicing Aberrations Caused by BRCA1 and BRCA2 Sequence Variants Encoding Missense Substitutions: Implications for Prediction of Pathogenicity
NF1 Microdeletions in Neurofibromatosis Type 1: From Genotype to Phenotype
An Interactive Web-Tool for Molecular Analyses Links Naturally Occurring Mutation Data with Three-Dimensional Structures of the Rhodopsin-like Glycoprotein Hormone Receptors