In Memoriam: Richard G.H. Cotton (1940–2015)
Mutation Update of the CLCN5 Gene Responsible for Dent Disease 1
A Gain-of-Function Mutation in NALCN in a Child with Intellectual Disability, Ataxia, and Arthrogryposis
Disclosing the Hidden Structure and Underlying Mutational Mechanism of a Novel Type of Duplication CNV Responsible for Hereditary Multiple Osteochondromas
An Interdomain KCNH2 Mutation Produces an Intermediate Long QT Syndrome
Structural and Functional Impact of Parkinson Disease-Associated Mutations in the E3 Ubiquitin Ligase Parkin
Molecular Diversity and Associated Phenotypic Spectrum of Germline CBL Mutations
Whole-Genome Sequencing and Integrative Genomic Analysis Approach on Two 22q11.2 Deletion Syndrome Family Trios for Genotype to Phenotype Correlations
Performant Mutation Identification Using Targeted Next-Generation Sequencing of 14 Thoracic Aortic Aneurysm Genes
Comparison of Exome and Genome Sequencing Technologies for the Complete Capture of Protein-Coding Regions
The KM-parkin-DB: A Sub-set MutationView Database Specialized for PARK2 (PARKIN) Variants