Cover Image, Volume 38, Issue 1
Issue Information
Are Functional Assays for Pathogenicity Assessment of Genetic Variants Overrated?
WRN Mutation Update : Mutation Spectrum, Patient Registries, and Translational Prospects
ExonImpact : Prioritizing Pathogenic Alternative Splicing Events
mirVAFC : A Web Server for Prioritizations of Pathogenic Sequence Variants from Exome Sequencing Data via Classifications
Chondroitin Sulfate N‐acetylgalactosaminyltransferase‐1 (CSGalNAcT‐1) Deficiency Results in a Mild Skeletal Dysplasia and Joint Laxity
Identical NR5A1 Missense Mutations in Two Unrelated 46,XX Individuals with Testicular Tissues
Deletions Overlapping VCAN Exon 8 Are New Molecular Defects for Wagner Disease
Analysis of Heteroplasmic Variants in the Cardiac Mitochondrial Genome of Individuals with Down Syndrome
A Comprehensive Functional Analysis of NTRK1 Missense Mutations Causing Hereditary Sensory and Autonomic Neuropathy Type IV (HSAN IV)
Assessment of the InSiGHT Interpretation Criteria for the Clinical Classification of 24 MLH1 and MSH2 Gene Variants
Increased Population Risk of AIP‐Related Acromegaly and Gigantism in Ireland
Investigating the Molecular Mechanisms Behind Uncharacterized Cysteine Losses from Prediction of Their Oxidation State
Mutation in SSUH2 Causes Autosomal‐Dominant Dentin Dysplasia Type I
11p15 ICR1 Partial Deletions Associated with IGF2/H19 DMR Hypomethylation and Silver–Russell Syndrome
The CHRNA5/CHRNA3/CHRNB4 Nicotinic Receptor Regulome : Genomic Architecture, Regulatory Variants, and Clinical Associations
Characterization of a Rare Nonpathogenic Methylenetetrahydrofolatereductase (MTHFR) Gene Mutation p.Lys215del in a Southern Italian family
Gene Variant Databases and Sharing : Creating a Global Genomic Variant Database for Personalized Medicine