2023
The VUS Challenge in Cystic Kidney Disease: A Case-Based Review
Aklilu A, Gulati A, Kolber K, Yang H, Harris P, Dahl N. The VUS Challenge in Cystic Kidney Disease: A Case-Based Review. Kidney360 2023, 5: 152-159. PMID: 37962562, PMCID: PMC10833605, DOI: 10.34067/kid.0000000000000298.Peer-Reviewed Original ResearchAutosomal dominant polycystic kidney diseaseKidney diseaseHigh pre-test probabilityGenetic testingCase-based reviewPre-test probabilityDominant polycystic kidney diseaseRoutine genetic testingPost-test genetic counselingCystic kidney diseasePolycystic kidney diseaseFurther family studiesNephrology clinicKidney failureClinical criteriaCystic disordersOrdering clinicianCommon causeAppropriate carePathogenic variantsACMG guidelinesClinical settingDiagnostic groupingsUncertain significanceGenetic reports
2019
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 ResearchConceptsGenomic 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