View of healthcare professionals on ultra-rapid genome sequencing and its implementation in clinical routine for critically ill children
Not a cluster of grapes, but bananas: Cord-like three-dimensional structure of cysts in ADPKD supports tubular obstruction hypothesis
Identification of deep intronic variants in junctional epidermolysis bullosa using whole genome sequencing and splicing assays
The congenital hearing phenotype in GJB2 in Queensland, Australia: V37I and mild hearing loss predominates
Comparison of the 2022 World Health Organization Classification and International Consensus Classification in Myelodysplastic Syndromes/Neoplasms
Redefining copy number variation and single-nucleotide polymorphism counting via novel concepts based on recent PCR enhancements.
Actionability and Familial Uptake Following Opportunistic Genomic Screening in a Pediatric Cancer Cohort
Pharmacogenomics knowledge within Neurology: A brief survey amongst physicians
Validation of the BOADICEA model for predicting the likelihood of carrying pathogenic variants in eight breast and ovarian cancer susceptibility genes
Novel homozygous variants in PRORP expand the genotypic spectrum of combined oxidative phosphorylation deficiency 54