▪ Point of Care Mutation Detection
Mutation Update for the CSB/ERCC6 and CSA/ERCC8 Genes Involved in Cockayne Syndrome
SM2PH-db: An Interactive System for the Integrated Analysis of Phenotypic Consequences of Missense Mutations in Proteins Involved in Human Genetic Diseases
Efficient Bypass of Mutations in Dysferlin Deficient Patient Cells by Antisense-Induced Exon Skipping
Detailed Haplotype Analysis at the TP53 Locus in p.R337H Mutation Carriers in the Population of Southern Brazil: Evidence for a Founder Effect
Alu-Repeat-Induced Deletions Within the NCF2 Gene Causing p67- phox -Deficient Chronic Granulomatous Disease (CGD)
MUTYH Mutations Associated with Familial Adenomatous Polyposis: Functional Characterization by a Mammalian Cell-Based Assay
XPC Branch-Point Sequence Mutations Disrupt U2 snRNP Binding, Resulting in Abnormal pre-mRNA Splicing in Xeroderma Pigmentosum Patients
Mutations of Tropomyosin 3 (TPM3) are Common and Associated With Type 1 Myofiber Hypotrophy in Congenital Fiber Type Disproportion
Assessing Individual Interethnic Admixture and Population Substructure Using a 48-Insertion-Deletion (INSEL) Ancestry-Informative Marker (AIM) Panel
KCNC3: Phenotype, Mutations, Channel Biophysics—a Study of 260 Familial Ataxia Patients
The Most Frequent DCLRE1C (ARTEMIS) Mutations are Based on Homologous Recombination Events
Exciton Primer-Mediated SNP Detection in SmartAmp2 Reactions
A Thorough Assessment of Benign Genetic Variability in GRN and MAPT
Bayes Analysis Provides Evidence of Pathogenicity for the BRCA1 c.135-1G>T (IVS3-1) and BRCA2 c.7977-1G>C (IVS17-1) Variants Displaying In Vitro Splicing Results of Equivocal Clinical Significance
NKX2-1 Mutations Leading to Surfactant Protein Promoter Dysregulation Cause Interstitial Lung Disease in “Brain-Lung-Thyroid Syndrome”
Pathogenic Mutations Cause Rapid Degradation of Lysosomal Storage Disease-related Membrane Protein CLN6