Redefining Mutational Spectra via Updated Locus-specific Databases
Gain-of-Function Mutation in STIM1 (P.R304W) Is Associated with Stormorken Syndrome
Mutation of POC1B in a Severe Syndromic Retinal Ciliopathy
A Mutation in the CASQ1 Gene Causes a Vacuolar Myopathy with Accumulation of Sarcoplasmic Reticulum Protein Aggregates
Evidence Against RAB40AL Being the Locus for Martin–Probst X-Linked Deafness–Intellectual Disability Syndrome
Functional Analyses of Mutations in HEPACAM Causing Megalencephalic Leukoencephalopathy
Enrichment of LOVD-USHbases with 152 USH2A Genotypes Defines an Extensive Mutational Spectrum and Highlights Missense Hotspots
Genetic and Clinical Analysis of ABCA4 -Associated Disease in African American Patients
Insights into the Regulatory Domain of Cystathionine Beta-Synthase: Characterization of Six Variant Proteins
Diagnostic Exome Sequencing to Elucidate the Genetic Basis of Likely Recessive Disorders in Consanguineous Families
Complex Tissue-Specific Epigenotypes in Russell–Silver Syndrome Associated with 11p15 ICR1 Hypomethylation
A Functional SNP Catalog of Overlapping miRNA-Binding Sites in Genes Implicated in Prion Disease and Other Neurodegenerative Disorders
Experimental Assessment of Splicing Variants Using Expression Minigenes and Comparison with In Silico Predictions
A New Workflow for Whole-Genome Sequencing of Single Human Cells