Inherited glomerular diseases in the gilded age of genomic advancements
Gulati A, Dahl N, Tufro A. Inherited glomerular diseases in the gilded age of genomic advancements. Pediatric Nephrology 2019, 35: 959-968. PMID: 31049720, PMCID: PMC7184048, DOI: 10.1007/s00467-019-04266-y.Peer-Reviewed Original ResearchMeSH KeywordsAdolescentAge FactorsBranchio-Oto-Renal SyndromeChildExome SequencingFemaleHigh-Throughput Nucleotide SequencingHumansInfantKidney Failure, ChronicMaleMiddle AgedMutationPedigreePolymorphism, Single NucleotideRenal Insufficiency, ChronicConceptsGenomic advancementsHigh-throughput next-generation sequencing technologiesNext-generation sequencing technologiesSingle nucleotide changeSingle nucleotide variationsDisease-causing mutationsDNA variationHuman genomeNext-generation sequencingGenomic informationSequencing technologiesNucleotide variationsAccurate genetic diagnosisNucleotide changesGenetic diagnosisSmall insertionsGenomic knowledgeCytogenetic methodsBiological interpretationMutation spectrumSequencingGenomic medicineGenomeUncertain significanceGlomerular disease