Retinitis pigmentosa: More genes, more variants, more work
Reading through nonsense as therapy for propionic acidemia?
The use of arrays to detect copy-number variations in clinical practice
Genome-wide arrays: Quality criteria and platforms to be used in routine diagnostics
Arrays in postnatal and prenatal diagnosis: An exploration of the ethics of consent
The introduction of arrays in prenatal diagnosis: A special challenge
Diagnostic interpretation of array data using public databases and internet sources
Genome-wide arrays in routine diagnostics of hematological malignancies
Mutation spectrum in the large GTPase dynamin 2, and genotype–phenotype correlation in autosomal dominant centronuclear myopathy
Identification of a truncation mutation of acylglycerol kinase (AGK) gene in a novel autosomal recessive cataract locus
Next-generation genetic testing for retinitis pigmentosa
Feasibility of nonsense mutation readthrough as a novel therapeutical approach in propionic acidemia
Clinical and genetic findings in a large cohort of patients with ryanodine receptor 1 gene-associated myopathies
Novel mutations in the KCND3 -encoded Kv4.3 K+ channel associated with autopsy-negative sudden unexplained death
A diagnostic genetic test for the physical mapping of germline rearrangements in the susceptibility breast cancer genes BRCA1 and BRCA2
Ribo-polymerase chain reaction—A facile method for the preparation of chimeric RNA/DNA applied to DNA sequencing
Maps for the world of genomic medicine: The 2011 CSHL Personal Genomes meeting
NGS catalog: A database of next generation sequencing studies in humans