Cover Image, Volume 38, Issue 3
Issue Information
One Gene, Several Diseases : The Characteristics of Pleiotropic Proteins
PERCH : A Unified Framework for Disease Gene Prioritization
The Clinical Next‐Generation Sequencing Database : A Tool for the Unified Management of Clinical Information and Genetic Variants to Accelerate Variant Pathogenicity Classification
Clinical and Molecular Characteristics of SLC16A2 (MCT8) Mutations in Three Families with the Allan–Herndon–Dudley Syndrome
Assessment of TP53 Polymorphisms and MDM2 SNP309 in Premenopausal Breast Cancer Risk
Somatic MED12 Nonsense Mutation Escapes mRNA Decay and Reveals a Motif Required for Nuclear Entry
Doublet‐Mediated DNA Rearrangement—A Novel and Potentially Underestimated Mechanism for the Formation of Recurrent Pathogenic Deletions
SLC4A11 Three‐Dimensional Homology Model Rationalizes Corneal Dystrophy‐Causing Mutations
Landscape of Pleiotropic Proteins Causing Human Disease : Structural and System Biology Insights
TBK1 Mutation Spectrum in an Extended European Patient Cohort with Frontotemporal Dementia and Amyotrophic Lateral Sclerosis
Flexible and Scalable Full‐Length CYP2D6 Long Amplicon PacBio Sequencing
Compound Heterozygosity for Null Mutations and a Common Hypomorphic Risk Haplotype in TBX6 Causes Congenital Scoliosis
Detecting AGG Interruptions in Male and Female FMR1 Premutation Carriers by Single‐Molecule Sequencing